1
00:00:03,120 --> 00:00:05,840
Speaker 1: It's the big take from Bloemberg News and I Heart Radio.

2
00:00:06,240 --> 00:00:10,239
Speaker 1: I'm West Gasova today. Why the f d A is

3
00:00:10,320 --> 00:00:14,720
Speaker 1: going slow on are proving a possible breakthrough treatment for

4
00:00:14,840 --> 00:00:26,079
Speaker 1: a l S. Something that you'll hear frequently in the

5
00:00:26,079 --> 00:00:30,680
Speaker 1: A l S community is a LS is fatal. There

6
00:00:30,800 --> 00:00:34,199
Speaker 1: is no cure, there is no effective treatment, so we

7
00:00:34,280 --> 00:00:38,600
Speaker 1: literally will try anything. We have a very high tolerance

8
00:00:38,600 --> 00:00:41,919
Speaker 1: for risk. Some of us say, we don't care if

9
00:00:41,920 --> 00:00:43,760
Speaker 1: it's known to be a poison. If there is a

10
00:00:43,880 --> 00:00:46,159
Speaker 1: chance that could help us, we are willing to take it.

11
00:00:46,760 --> 00:00:49,640
Speaker 1: So the thought of it, trying of medication through expanded

12
00:00:49,680 --> 00:00:53,560
Speaker 1: access was simply a no brainer for us. That's Cassandra.

13
00:00:54,080 --> 00:00:56,920
Speaker 1: She asked us not to use her full name, and

14
00:00:57,040 --> 00:01:00,080
Speaker 1: she is far too familiar with the devastating effects of

15
00:01:00,120 --> 00:01:04,679
Speaker 1: a LS often called Luke Garrig's disease. Many members of

16
00:01:04,720 --> 00:01:07,560
Speaker 1: Cassandra's family have died from a l S because of

17
00:01:07,600 --> 00:01:12,240
Speaker 1: a rare gene that's passed down through generations. Will hear

18
00:01:12,280 --> 00:01:16,399
Speaker 1: Cassandra's story later in the program for her family and

19
00:01:16,560 --> 00:01:20,240
Speaker 1: thousands of others. A new treatment still in development from

20
00:01:20,280 --> 00:01:25,280
Speaker 1: the company Biogen, shows some early promise of possibly slowing

21
00:01:25,360 --> 00:01:29,039
Speaker 1: the rapid progress of the disease. The U S Food

22
00:01:29,040 --> 00:01:33,440
Speaker 1: and Drug Administration is moving cautiously. It's wary of approving

23
00:01:33,440 --> 00:01:36,520
Speaker 1: the drug before Moore is known about how effective it

24
00:01:36,600 --> 00:01:40,800
Speaker 1: is and possible side effects. But als, activists and people

25
00:01:40,920 --> 00:01:45,679
Speaker 1: afflicted are pressing the FDA for rapid approval of the drug, or,

26
00:01:45,760 --> 00:01:49,560
Speaker 1: like you heard Cassandra say, just now, early expanded access

27
00:01:49,600 --> 00:01:53,120
Speaker 1: to the treatment before approval for those who may have

28
00:01:53,360 --> 00:01:58,080
Speaker 1: no other hope. Bloomberg's chief medical writer, Robert langerth joins

29
00:01:58,120 --> 00:02:03,720
Speaker 1: me now to explain what's happening. Robert Langer, thanks so

30
00:02:03,800 --> 00:02:05,920
Speaker 1: much for joining me today. It's great to be here.

31
00:02:06,440 --> 00:02:09,680
Speaker 1: But can you talk a bit about a l S

32
00:02:09,800 --> 00:02:15,160
Speaker 1: the disease itself, what actually does it do? A LS

33
00:02:15,440 --> 00:02:19,919
Speaker 1: is one of the most devastating diseases. Basically, the nerves,

34
00:02:19,919 --> 00:02:23,800
Speaker 1: the control all the voluntary muscles slowly die, and that

35
00:02:23,840 --> 00:02:29,520
Speaker 1: includes those responsible for breathing, chewing, swallowing. Most people die

36
00:02:30,120 --> 00:02:33,680
Speaker 1: within three to five years is a typical, and if

37
00:02:33,720 --> 00:02:36,799
Speaker 1: you choose to go on a respirator and a feeding tube,

38
00:02:36,800 --> 00:02:39,079
Speaker 1: you can get a new condition that's called locked in,

39
00:02:39,120 --> 00:02:43,120
Speaker 1: where you're essentially fully paralyzed, unable to communicate with the

40
00:02:43,160 --> 00:02:45,800
Speaker 1: rest of the outside world. Your mind and sensors are

41
00:02:45,800 --> 00:02:49,400
Speaker 1: fully intact about how many people in the US, around

42
00:02:49,400 --> 00:02:52,720
Speaker 1: the world are afflicted by a L S. Yeah, so

43
00:02:52,919 --> 00:02:57,200
Speaker 1: in the US figures very about twenty to thirty thousand

44
00:02:57,560 --> 00:03:02,240
Speaker 1: afflicted with LS. Approximately ten percent of them cases are

45
00:03:02,320 --> 00:03:07,040
Speaker 1: running families. And then you know the cases roughly uh,

46
00:03:07,200 --> 00:03:10,400
Speaker 1: the causes are are unknown, so it's you're, not a

47
00:03:10,440 --> 00:03:14,560
Speaker 1: common disease, but it is just totally devastating. So that's

48
00:03:14,600 --> 00:03:18,600
Speaker 1: a lot of people in numbers, and yet not a

49
00:03:18,680 --> 00:03:21,680
Speaker 1: lot of people when it comes to a drug company

50
00:03:21,760 --> 00:03:25,280
Speaker 1: spending a lot of money that it takes to develop

51
00:03:25,280 --> 00:03:27,800
Speaker 1: a drug, and that's been one of the problems associated

52
00:03:27,800 --> 00:03:30,240
Speaker 1: with trying to find treatments or cures for the disease.

53
00:03:30,800 --> 00:03:33,160
Speaker 1: It's been very little known about the cause. It's just

54
00:03:33,200 --> 00:03:37,200
Speaker 1: been a graveyard for drugmakers with numerous failed trials. And

55
00:03:37,240 --> 00:03:39,800
Speaker 1: one of the problems the disease it's not actually straightforward

56
00:03:39,840 --> 00:03:42,800
Speaker 1: to diagnose. There's no like simple blood tests for LS,

57
00:03:42,840 --> 00:03:46,400
Speaker 1: so it's a kind of a diagnosis of exclusion. So

58
00:03:46,440 --> 00:03:50,000
Speaker 1: they basically rule everything else out until they can say,

59
00:03:50,120 --> 00:03:53,000
Speaker 1: you know, the only cause we have we know for

60
00:03:53,040 --> 00:03:56,960
Speaker 1: the reasons you're progressively getting paralyzed is a LS. We've

61
00:03:57,040 --> 00:03:59,920
Speaker 1: ruled out everything else, so that means people like often

62
00:04:00,000 --> 00:04:03,680
Speaker 1: don't get diagnosed until late. That's, you know, another issue

63
00:04:03,760 --> 00:04:06,080
Speaker 1: for for drugmakers, because you want to try to treat

64
00:04:06,160 --> 00:04:09,480
Speaker 1: as early as possible. If you've been online in the

65
00:04:09,560 --> 00:04:11,880
Speaker 1: last few weeks, there's a good chance you've seen someone

66
00:04:11,960 --> 00:04:16,080
Speaker 1: taking the ALS ice bucket challenge, people dumping ice cold

67
00:04:16,080 --> 00:04:19,560
Speaker 1: water on their heads and nominating others to do the same.

68
00:04:19,720 --> 00:04:22,160
Speaker 1: I think we all remember about nine years ago now

69
00:04:22,400 --> 00:04:25,240
Speaker 1: the ice Bucket Challenge where people were pouring cold buckets

70
00:04:25,240 --> 00:04:27,360
Speaker 1: of ice over their heads as a way to raise

71
00:04:27,400 --> 00:04:30,920
Speaker 1: awareness and money for a l S. That's certainly raised awareness,

72
00:04:30,960 --> 00:04:33,080
Speaker 1: we were all talking about it, but in the almost

73
00:04:33,200 --> 00:04:37,479
Speaker 1: decades since that happened, did it do anything to jump

74
00:04:37,600 --> 00:04:41,400
Speaker 1: start both funding and research for cures. Yeah. So one

75
00:04:41,440 --> 00:04:44,760
Speaker 1: of the historical issues with a LS is that because

76
00:04:44,760 --> 00:04:47,760
Speaker 1: people die so quickly, it doesn't have that kind of

77
00:04:47,839 --> 00:04:50,840
Speaker 1: constituency of survivors at some diseases have that can really

78
00:04:50,880 --> 00:04:54,520
Speaker 1: a lobby and push and attention and money for treatment

79
00:04:54,560 --> 00:04:57,119
Speaker 1: and research into new treatments. So the ice bucket Challenge

80
00:04:57,160 --> 00:04:59,000
Speaker 1: kind of did like bring a lot of attention and

81
00:04:59,160 --> 00:05:01,360
Speaker 1: a lot of new funding to it, and that did

82
00:05:01,520 --> 00:05:04,120
Speaker 1: appear to result in, you know, more drugs and trials

83
00:05:04,160 --> 00:05:08,600
Speaker 1: now that than ever before. And in your latest story

84
00:05:08,760 --> 00:05:12,040
Speaker 1: about a l S, you write about a new therapy

85
00:05:12,320 --> 00:05:16,800
Speaker 1: from Biogen which they're trying to get accelerated approval from

86
00:05:16,839 --> 00:05:18,920
Speaker 1: the FDA, and there's been a bit of back and forth.

87
00:05:18,920 --> 00:05:21,719
Speaker 1: Can you tell us about that? So in the story,

88
00:05:21,760 --> 00:05:25,200
Speaker 1: we write about a drug called Toeferson from Biogen, which

89
00:05:25,200 --> 00:05:28,680
Speaker 1: would be the first drug to attack a known genetic

90
00:05:28,760 --> 00:05:31,240
Speaker 1: cause of a LS, one of these handful of rare

91
00:05:31,320 --> 00:05:34,320
Speaker 1: genes that causes rare, familiar forms of a LS. It's

92
00:05:34,320 --> 00:05:38,600
Speaker 1: a complicated controversy, but Biologen conducted a small Phase three

93
00:05:38,640 --> 00:05:41,360
Speaker 1: trial of the drug. I did not succeed on the

94
00:05:41,400 --> 00:05:44,560
Speaker 1: main goal of its trial and slowing the disease, though

95
00:05:44,600 --> 00:05:47,360
Speaker 1: it did show promising signs. But what it does do

96
00:05:47,880 --> 00:05:50,960
Speaker 1: is that it does very clearly lower levels of this

97
00:05:51,200 --> 00:05:55,880
Speaker 1: blood protein called neurofillment, which is a protein that's released

98
00:05:56,080 --> 00:05:58,640
Speaker 1: when nerve cells are dying. It's a sign of nerves

99
00:05:58,640 --> 00:06:02,000
Speaker 1: cell damage. So that sign is clearly decreased. So it's

100
00:06:02,040 --> 00:06:06,479
Speaker 1: applied for accelerated approval for TOPS and basically approval of

101
00:06:06,480 --> 00:06:08,080
Speaker 1: a drug, you know, based on a kind of a

102
00:06:08,120 --> 00:06:12,920
Speaker 1: bio marker alone without proof that it slows the clinical decline.

103
00:06:14,480 --> 00:06:16,839
Speaker 1: You mentioned that it was based on a bio marker.

104
00:06:16,880 --> 00:06:20,160
Speaker 1: What is that. Yeah, so bio markers that's kind of

105
00:06:20,200 --> 00:06:24,560
Speaker 1: basically a fancy word for blood tests or scans or

106
00:06:24,640 --> 00:06:27,800
Speaker 1: some other kind of lab or testing value that might

107
00:06:27,880 --> 00:06:30,040
Speaker 1: kind of show what's kind of going on in the

108
00:06:30,080 --> 00:06:33,719
Speaker 1: underlying process of disease. So, so it shows promise, but

109
00:06:33,800 --> 00:06:38,080
Speaker 1: it hasn't been shown effective yet. It hasn't been proven

110
00:06:38,160 --> 00:06:42,560
Speaker 1: yet to show clinical effectives. Now, this experimental drug that

111
00:06:42,600 --> 00:06:44,919
Speaker 1: Biogenna is working on and seeking approval for it is

112
00:06:44,960 --> 00:06:49,840
Speaker 1: for a subset of a LS that runs in families.

113
00:06:49,880 --> 00:06:53,040
Speaker 1: So this is not for overall a list, but especially

114
00:06:53,160 --> 00:06:57,560
Speaker 1: devastating form of the disease where entire families can be affected. Yeah,

115
00:06:57,720 --> 00:07:01,080
Speaker 1: this is for people with ALS due to a bad

116
00:07:01,160 --> 00:07:03,520
Speaker 1: gene called s O D one or sod one, and

117
00:07:03,560 --> 00:07:06,240
Speaker 1: people with this bad gene that run in their family.

118
00:07:06,240 --> 00:07:08,080
Speaker 1: If you have just one copy of this gene, you're

119
00:07:08,080 --> 00:07:10,760
Speaker 1: almost certain to get a l S in your lifetime.

120
00:07:11,280 --> 00:07:14,160
Speaker 1: It's so devastating when the people they get it they

121
00:07:14,160 --> 00:07:17,160
Speaker 1: can they can die within twelve to eighteen months, often

122
00:07:17,200 --> 00:07:20,000
Speaker 1: an ultra rapid progressing form of LS, and then it

123
00:07:20,040 --> 00:07:23,760
Speaker 1: can run through families for like generations, like back literally

124
00:07:23,920 --> 00:07:26,720
Speaker 1: hundreds of years. In your story, you write about a

125
00:07:26,760 --> 00:07:31,280
Speaker 1: family from Pennsylvania, the Webber family, and they've been afflicted

126
00:07:31,320 --> 00:07:34,840
Speaker 1: with this form of ALS for generations. You spoke with

127
00:07:34,880 --> 00:07:38,360
Speaker 1: Cynthia Weber and her daughter Cassandra. What did they tell

128
00:07:38,520 --> 00:07:43,000
Speaker 1: you about the family's history with a l S. Yeah, So,

129
00:07:43,200 --> 00:07:46,560
Speaker 1: in Cynthia Webber's closet for many years, there was a

130
00:07:46,600 --> 00:07:50,000
Speaker 1: family tree and it was sprawled over two large pages

131
00:07:50,000 --> 00:07:54,600
Speaker 1: of architecture paper literally detailed three fifty ancestors going back

132
00:07:54,760 --> 00:07:58,840
Speaker 1: well into the eighteen hundreds, and I gave dates of deaths,

133
00:07:58,840 --> 00:08:02,400
Speaker 1: the names, dates of births and deaths and causes. And

134
00:08:02,440 --> 00:08:04,920
Speaker 1: the reason it was buried away in the closet wasn't

135
00:08:04,920 --> 00:08:07,320
Speaker 1: that people didn't know it was there, you know, it

136
00:08:07,360 --> 00:08:09,960
Speaker 1: was because nobody really in the family wanted to look

137
00:08:10,000 --> 00:08:12,520
Speaker 1: at it because so many people in the family over

138
00:08:12,560 --> 00:08:15,880
Speaker 1: the years and decades and centuries had died from a LS.

139
00:08:15,920 --> 00:08:19,400
Speaker 1: And in fact, more than thirty people on that family tree,

140
00:08:19,480 --> 00:08:22,440
Speaker 1: on that blueprint, their deaths are marked with the letters

141
00:08:22,560 --> 00:08:26,440
Speaker 1: A L S, and so in Cynthia Webber's and Cassandra's family,

142
00:08:27,120 --> 00:08:29,080
Speaker 1: the way they think about it, you know, some people

143
00:08:29,160 --> 00:08:32,600
Speaker 1: pass on jeans or red hair or green eyes, but

144
00:08:32,760 --> 00:08:36,440
Speaker 1: they pass on a legacy of death from a LS.

145
00:08:37,200 --> 00:08:40,640
Speaker 1: For many years, people in the family were told that

146
00:08:40,800 --> 00:08:43,720
Speaker 1: before you got married, you had to tell your spouse

147
00:08:44,160 --> 00:08:47,199
Speaker 1: about the bad genes, about the A L S risk

148
00:08:47,600 --> 00:08:50,240
Speaker 1: that ran the family, so your potential spouse could have

149
00:08:50,240 --> 00:08:52,240
Speaker 1: a chance to back out and they would know kind

150
00:08:52,240 --> 00:08:55,600
Speaker 1: of what they were getting into. For a few years, though,

151
00:08:55,880 --> 00:09:00,400
Speaker 1: Cynthia Webber's generation, her generation themselves were beginning to think

152
00:09:00,440 --> 00:09:02,480
Speaker 1: that the bad gene, the L S gene, had sort

153
00:09:02,480 --> 00:09:05,920
Speaker 1: of skipped their generation because none of Cynthia Webber's siblings

154
00:09:05,920 --> 00:09:08,800
Speaker 1: had gotten a LS. But then in two thou nineteen,

155
00:09:08,880 --> 00:09:13,120
Speaker 1: Cynthia Weber's brother Dwayne started developing symptoms of LS, and

156
00:09:13,240 --> 00:09:17,959
Speaker 1: he quickly got worse. Bobbing your story, you write how

157
00:09:18,000 --> 00:09:22,640
Speaker 1: the Webber family sought recent therapies and really had a

158
00:09:22,720 --> 00:09:26,880
Speaker 1: difficult time and mixed results. Can you describe their experience

159
00:09:26,920 --> 00:09:30,080
Speaker 1: with trying to get these drugs that potentially could have

160
00:09:30,440 --> 00:09:34,400
Speaker 1: prolonged life so because the s a D one or

161
00:09:34,480 --> 00:09:37,520
Speaker 1: sod one gene runs in the Webber family, that is,

162
00:09:37,559 --> 00:09:40,760
Speaker 1: the a LS causing gene in their family, they are

163
00:09:41,040 --> 00:09:45,559
Speaker 1: ideal candidates for this experimental drug from Biologen called Toferson

164
00:09:45,640 --> 00:09:48,760
Speaker 1: that targets that specific gene that runs in their family.

165
00:09:49,200 --> 00:09:52,800
Speaker 1: So Cynthia Webber's brother, Dwayne lindsay he was the first

166
00:09:52,800 --> 00:09:55,440
Speaker 1: in the recent generation of the family to be diagnosed

167
00:09:55,440 --> 00:09:57,199
Speaker 1: with a L S, and he in fact managed to

168
00:09:57,240 --> 00:10:01,040
Speaker 1: get into bao Jen's main phase three trial of it's drug. Toverson,

169
00:10:01,320 --> 00:10:04,319
Speaker 1: that's the drug that targets a specific gene that runs

170
00:10:04,400 --> 00:10:07,640
Speaker 1: in the Cynthia Weber family. The family does not know

171
00:10:08,320 --> 00:10:12,360
Speaker 1: whether he got placebo or the active drug. They believed

172
00:10:12,520 --> 00:10:16,520
Speaker 1: that when he was on the injections that his LS

173
00:10:16,679 --> 00:10:20,400
Speaker 1: appeared to progress much more slowly, and then the minute

174
00:10:20,440 --> 00:10:23,400
Speaker 1: some of the injections were stopped, he declined rapidly. And

175
00:10:23,440 --> 00:10:26,720
Speaker 1: the reason they suspect this was because he was in

176
00:10:26,760 --> 00:10:29,800
Speaker 1: the trial during the beginning of the pandemic and so

177
00:10:29,960 --> 00:10:34,120
Speaker 1: he missed three treatments because the trial sites shut down

178
00:10:34,320 --> 00:10:36,880
Speaker 1: during the pandemic temporarily, and during that period when the

179
00:10:36,880 --> 00:10:40,720
Speaker 1: trial sites shut down, his condition just declined markedly, and

180
00:10:40,720 --> 00:10:43,560
Speaker 1: the family suspects that he was on the active drug

181
00:10:43,679 --> 00:10:47,520
Speaker 1: during that period. When we come back, what it's like

182
00:10:47,679 --> 00:10:55,800
Speaker 1: when a l S runs in the family. Cynthia Weber's

183
00:10:55,880 --> 00:10:58,839
Speaker 1: daughter Cassandra, who we heard at the beginning of the episode,

184
00:10:59,160 --> 00:11:02,280
Speaker 1: has seen the devastating effects of a l S in

185
00:11:02,360 --> 00:11:06,760
Speaker 1: her own family. Robert Langrith talked about how Cynthia Weber's brother,

186
00:11:07,080 --> 00:11:12,560
Speaker 1: Cassandra's uncle was diagnosed. Robert spoke to Cassandra and she

187
00:11:12,720 --> 00:11:17,240
Speaker 1: described the experience and what has happened since. My mom

188
00:11:17,320 --> 00:11:20,520
Speaker 1: called us and said, girls, I have bad news. Your

189
00:11:20,600 --> 00:11:23,520
Speaker 1: uncle Dwayne has a l S. And that was I

190
00:11:23,559 --> 00:11:27,640
Speaker 1: believe in twenty nineteen. It was pre COVID. At first,

191
00:11:27,720 --> 00:11:32,160
Speaker 1: the results looked promising. Cassandra's uncle Dwayne appeared to be

192
00:11:32,200 --> 00:11:36,120
Speaker 1: responding to the treatment, and then COVID came and unfortunately,

193
00:11:36,360 --> 00:11:40,280
Speaker 1: his experimental trial site decided to stop giving him the

194
00:11:40,360 --> 00:11:43,640
Speaker 1: to Pherson injections, so he missed three injections and started

195
00:11:43,679 --> 00:11:46,640
Speaker 1: to rapidly decline. He was able to resume and he

196
00:11:46,720 --> 00:11:50,319
Speaker 1: got two more, but he had begun progressing quite quickly.

197
00:11:50,760 --> 00:11:53,600
Speaker 1: After my uncle was diagnosed, he asked his siblings to

198
00:11:53,640 --> 00:11:56,880
Speaker 1: please get tested. My mom went to her family doctor

199
00:11:57,200 --> 00:12:02,000
Speaker 1: in January and requested to have testing done. In June,

200
00:12:02,280 --> 00:12:04,960
Speaker 1: she called the family doctor's office and asked where her

201
00:12:04,960 --> 00:12:08,480
Speaker 1: results were. It's easy to get distracted. We were busy.

202
00:12:08,800 --> 00:12:11,160
Speaker 1: She was here with the grandkids all the time. So

203
00:12:11,280 --> 00:12:13,840
Speaker 1: finally they got back in contact with the genetic testing

204
00:12:13,880 --> 00:12:16,520
Speaker 1: company and my mom called me a few days later

205
00:12:16,559 --> 00:12:18,680
Speaker 1: and said, Honey, I have to go into the office.

206
00:12:19,200 --> 00:12:21,520
Speaker 1: And I said, Mom, if you have to go into

207
00:12:21,559 --> 00:12:23,720
Speaker 1: the office, I have to go with you. And she

208
00:12:23,800 --> 00:12:27,920
Speaker 1: never wanted to bother anybody, so she said, no, don't

209
00:12:27,960 --> 00:12:31,200
Speaker 1: take time off from work. But I knew in my

210
00:12:31,280 --> 00:12:38,160
Speaker 1: heart what the results were. Cynthia became the thirty third

211
00:12:38,240 --> 00:12:41,000
Speaker 1: person in her family to test positive for the A

212
00:12:41,160 --> 00:12:44,800
Speaker 1: L S gene, but she wasn't showing signs of the disease.

213
00:12:45,480 --> 00:12:51,040
Speaker 1: A month later, in July, Cynthia's brother, Dwayne died of

214
00:12:51,040 --> 00:12:56,079
Speaker 1: a LS. Not long after that, Cassandra noticed small changes

215
00:12:56,280 --> 00:12:59,080
Speaker 1: in her mom. Her first symptom was that she couldn't

216
00:12:59,080 --> 00:13:01,480
Speaker 1: lift her leg up off the floor to get into bed,

217
00:13:02,280 --> 00:13:05,400
Speaker 1: and she thought it was just a grief reaction that

218
00:13:05,520 --> 00:13:07,920
Speaker 1: she was upset about her brother and things were kind

219
00:13:07,920 --> 00:13:11,480
Speaker 1: of in her head, and so she chose to ignore them,

220
00:13:11,520 --> 00:13:14,360
Speaker 1: and I can't say that I blame her. Within a

221
00:13:14,360 --> 00:13:17,400
Speaker 1: few months, it became apparent that she wasn't walking very well,

222
00:13:17,800 --> 00:13:20,319
Speaker 1: and because I knew her genetic test results, I was

223
00:13:20,360 --> 00:13:24,480
Speaker 1: watching her pretty closely. She was also sixty nine years old,

224
00:13:24,880 --> 00:13:27,880
Speaker 1: getting older, and I knew that her risk was going up.

225
00:13:28,559 --> 00:13:31,480
Speaker 1: Our gene has caught a high penetrance rate, meaning by

226
00:13:31,480 --> 00:13:34,200
Speaker 1: the time you're seventy years old, you have a chance

227
00:13:34,200 --> 00:13:38,560
Speaker 1: of getting a l S. Sometime around September, I started

228
00:13:38,600 --> 00:13:41,000
Speaker 1: to notice that Mom couldn't keep up with us. We'd

229
00:13:41,000 --> 00:13:42,800
Speaker 1: walked to the park down the street with the kids.

230
00:13:43,120 --> 00:13:45,719
Speaker 1: We've done that walk hundreds of times, and she was

231
00:13:45,800 --> 00:13:49,400
Speaker 1: lagging behind a little bit. And then October came with

232
00:13:49,440 --> 00:13:52,560
Speaker 1: the kid's birthday and she was doing pretty good. And

233
00:13:52,600 --> 00:13:54,920
Speaker 1: then she always went trick or treating with us, and

234
00:13:55,000 --> 00:13:57,000
Speaker 1: she couldn't keep up, even to go around the block.

235
00:13:57,679 --> 00:14:00,320
Speaker 1: So finally, in a quiet moment, I confronted her and

236
00:14:00,360 --> 00:14:03,120
Speaker 1: I said, Mom, I'm really worried about your leg. So

237
00:14:03,200 --> 00:14:05,559
Speaker 1: within a few weeks she called me and she said, honey,

238
00:14:05,600 --> 00:14:11,080
Speaker 1: I need to see someone. I was at work and

239
00:14:11,120 --> 00:14:13,600
Speaker 1: I walked out to the parking lot and I screamed

240
00:14:16,320 --> 00:14:19,440
Speaker 1: because I knew it was coming. The first thing I

241
00:14:19,480 --> 00:14:21,400
Speaker 1: did is I called the group I had been working

242
00:14:21,400 --> 00:14:25,160
Speaker 1: with vir Genetic Counseling, and I said, what can we do?

243
00:14:25,560 --> 00:14:28,680
Speaker 1: And this was December. She had not been officially diagnosed

244
00:14:28,680 --> 00:14:31,440
Speaker 1: by anybody, but we knew because Santra tried to get

245
00:14:31,440 --> 00:14:34,800
Speaker 1: Cynthia enrolled in the trial for the same drug Cynthia's

246
00:14:34,840 --> 00:14:38,760
Speaker 1: brother had tried with some success, but the trial was full.

247
00:14:39,440 --> 00:14:41,840
Speaker 1: She pressed for her mother to be placed in Biogen's

248
00:14:41,920 --> 00:14:45,720
Speaker 1: Expanded Access program, another way to get the treatment. After

249
00:14:45,960 --> 00:14:51,040
Speaker 1: some advocacy from her doctor, Cynthia's application was approved. So

250
00:14:51,160 --> 00:14:54,680
Speaker 1: getting expanded Access was based on your score, which includes

251
00:14:54,720 --> 00:14:56,960
Speaker 1: things like can you go up and down the stairs?

252
00:14:57,320 --> 00:14:59,840
Speaker 1: Can you cut your own food? Can you adjust your

253
00:14:59,840 --> 00:15:02,880
Speaker 1: own sheets? So at that point, my mom was still

254
00:15:02,920 --> 00:15:06,440
Speaker 1: doing really well. She was actually still walking with a

255
00:15:06,440 --> 00:15:09,160
Speaker 1: lot of difficulty and not far, but with a walker

256
00:15:09,520 --> 00:15:11,880
Speaker 1: she could transfer and do most of her own care,

257
00:15:12,280 --> 00:15:15,760
Speaker 1: but she was starting to progress. At this point, Cassandra

258
00:15:15,840 --> 00:15:19,320
Speaker 1: made another decision. So after my mom received her genetic

259
00:15:19,360 --> 00:15:21,720
Speaker 1: testing results, I realized that I needed to be tested

260
00:15:21,720 --> 00:15:23,840
Speaker 1: as well, because I had a fifty fifty shot of

261
00:15:23,880 --> 00:15:25,880
Speaker 1: carrying the gene, and I needed to know so that

262
00:15:25,920 --> 00:15:28,360
Speaker 1: I could try and be proactive and find anything I

263
00:15:28,400 --> 00:15:31,160
Speaker 1: could do to try and prevent a LS, even though

264
00:15:31,160 --> 00:15:33,640
Speaker 1: there isn't anything really, and so that I could know

265
00:15:33,720 --> 00:15:36,040
Speaker 1: to plan for my family's future and to figure out

266
00:15:36,080 --> 00:15:38,320
Speaker 1: if my children would need to consider genetic testing at

267
00:15:38,320 --> 00:15:41,560
Speaker 1: some point. Because of COVID, everything was over Zoom, So

268
00:15:41,600 --> 00:15:43,880
Speaker 1: they ship a kit to your home and you do

269
00:15:43,960 --> 00:15:46,000
Speaker 1: your own cheek swab and send that out to the

270
00:15:46,080 --> 00:15:48,160
Speaker 1: lab and then it takes about six weeks for your

271
00:15:48,160 --> 00:15:51,600
Speaker 1: test results to come back. So the results disclosure was

272
00:15:51,640 --> 00:15:54,240
Speaker 1: on a Zoom call with the geneticist followed by a

273
00:15:54,320 --> 00:15:57,200
Speaker 1: meeting with a neurologist. They told me I had a

274
00:15:57,240 --> 00:16:00,640
Speaker 1: time that there wouldn't be any chit chat and as

275
00:16:00,640 --> 00:16:04,160
Speaker 1: she would come right out with my results. My husband

276
00:16:04,160 --> 00:16:06,800
Speaker 1: and I had told ourselves we will be prepared for

277
00:16:06,840 --> 00:16:10,000
Speaker 1: it to be positive, and that if it was negative,

278
00:16:10,040 --> 00:16:16,120
Speaker 1: we would just be happy. But you can't prepare. I

279
00:16:16,200 --> 00:16:18,600
Speaker 1: knew as soon as I saw her face that my

280
00:16:18,680 --> 00:16:22,640
Speaker 1: results were positive, and when she said it out loud,

281
00:16:22,680 --> 00:16:26,280
Speaker 1: I collapsed. We were sitting at the dining room table

282
00:16:27,040 --> 00:16:30,760
Speaker 1: and I felt like someone had punched me right in

283
00:16:30,800 --> 00:16:37,160
Speaker 1: the heart. I couldn't hear, I couldn't see. I just

284
00:16:37,320 --> 00:16:44,080
Speaker 1: collapsed in thinking what about my children? So I knew

285
00:16:44,280 --> 00:16:46,400
Speaker 1: there was a fifty fifty chance of having a JANEK

286
00:16:46,480 --> 00:16:49,000
Speaker 1: result come back positive, and even though we had told

287
00:16:49,000 --> 00:16:52,200
Speaker 1: ourselves to be prepared, we weren't. There really is no

288
00:16:52,280 --> 00:16:55,000
Speaker 1: way to prepare for hearing this news. I knew all

289
00:16:55,000 --> 00:16:58,000
Speaker 1: of the numbers. I knew we had a high penetrance rate,

290
00:16:58,200 --> 00:17:00,560
Speaker 1: that I had a nine chance of getting a last

291
00:17:00,560 --> 00:17:03,200
Speaker 1: by the age of seventy and you my grandfather died

292
00:17:03,200 --> 00:17:06,320
Speaker 1: at sto and his brother at thirty. And the only

293
00:17:06,359 --> 00:17:08,600
Speaker 1: thing I could think about was that I could have

294
00:17:08,640 --> 00:17:11,600
Speaker 1: given this gene to my children. Each of my children

295
00:17:11,640 --> 00:17:14,720
Speaker 1: have a shot of carrying this gene, and we can't

296
00:17:14,720 --> 00:17:17,000
Speaker 1: test them until they turn eighteen, and they need to

297
00:17:17,040 --> 00:17:20,879
Speaker 1: make that choice. But as a parent, as mom, to

298
00:17:21,000 --> 00:17:23,160
Speaker 1: think that you may have passed something like this onto

299
00:17:23,200 --> 00:17:27,520
Speaker 1: your children is heartbreaking. It's devastating. And I also didn't

300
00:17:27,520 --> 00:17:30,560
Speaker 1: want them to watch me die of a LS like

301
00:17:30,600 --> 00:17:35,639
Speaker 1: I watched my uncle, my grandfather. How many generations of

302
00:17:35,640 --> 00:17:39,600
Speaker 1: our family have to watch each other die by May

303
00:17:39,680 --> 00:17:43,720
Speaker 1: of this year, Cynthia's a l S had progressed significantly.

304
00:17:44,520 --> 00:17:47,880
Speaker 1: She believed to overson the drug had extended her life,

305
00:17:48,320 --> 00:17:51,240
Speaker 1: but she had lost most mobility in her limbs and

306
00:17:51,280 --> 00:17:54,720
Speaker 1: decided to stop treatment. She moved into the home of

307
00:17:54,760 --> 00:17:59,000
Speaker 1: Cassandra's older sister. Three months later, in August this year,

308
00:17:59,560 --> 00:18:03,320
Speaker 1: Cynthia passed away. Everyone who knows my mom would tell

309
00:18:03,320 --> 00:18:07,000
Speaker 1: you that she was the kindest person, always a true friend.

310
00:18:07,440 --> 00:18:11,280
Speaker 1: She was a registered nurse worked at Harrisburg State Hospital

311
00:18:11,560 --> 00:18:16,560
Speaker 1: doing inpatient mental health for over twenty five years, loving giving.

312
00:18:17,200 --> 00:18:19,560
Speaker 1: I found a letter one of the doctors wrote about her,

313
00:18:19,640 --> 00:18:22,120
Speaker 1: and it was just beautiful. He called her a true

314
00:18:22,200 --> 00:18:27,159
Speaker 1: nursing professional. He acknowledged her thought process, her compassion, and

315
00:18:27,200 --> 00:18:30,199
Speaker 1: that's what everybody would tell you. As a nurse practitioner,

316
00:18:30,280 --> 00:18:33,080
Speaker 1: I understand the path of physiology of a l S,

317
00:18:33,240 --> 00:18:35,760
Speaker 1: why the things are happening that are happening, But nothing

318
00:18:35,800 --> 00:18:38,960
Speaker 1: can prepare you for living through a l S with

319
00:18:39,080 --> 00:18:42,199
Speaker 1: yourself or a loved one. To see the date by

320
00:18:42,280 --> 00:18:46,199
Speaker 1: day changes. One night she could use her hand, the

321
00:18:46,280 --> 00:18:49,040
Speaker 1: next day she couldn't. To lose the use of your

322
00:18:49,080 --> 00:18:52,640
Speaker 1: thumb means you can't feed yourself. To see someone deteriorate

323
00:18:52,880 --> 00:18:55,520
Speaker 1: every single day. There's no way to prepare for that.

324
00:18:56,040 --> 00:18:58,080
Speaker 1: It absolutely changed the way I view A l S

325
00:18:58,119 --> 00:19:01,000
Speaker 1: because now I've lived through it, I've seen it firsthand.

326
00:19:01,320 --> 00:19:04,080
Speaker 1: I've watched her die from it. Nothing can prepare you

327
00:19:04,119 --> 00:19:12,200
Speaker 1: for that. Since her mother's passing and her own positive

328
00:19:12,240 --> 00:19:15,240
Speaker 1: test for the A l S gene, Cassandra has become

329
00:19:15,280 --> 00:19:19,119
Speaker 1: an activist for more research and greater access to treatments.

330
00:19:19,560 --> 00:19:21,520
Speaker 1: I think as soon as someone in your family or

331
00:19:21,600 --> 00:19:25,880
Speaker 1: someone you love gets an LS diagnosis, and you see

332
00:19:25,880 --> 00:19:29,240
Speaker 1: the fight that we're up against, you see the limited options,

333
00:19:29,520 --> 00:19:32,680
Speaker 1: the lack of hope, it kind of turns everyone into

334
00:19:32,680 --> 00:19:36,480
Speaker 1: a warrior. I haven't met an A l S patient

335
00:19:36,800 --> 00:19:40,400
Speaker 1: or family yet who hasn't gotten into advocacy. It's kind

336
00:19:40,400 --> 00:19:42,439
Speaker 1: of like the all time underdog, and we all just

337
00:19:42,480 --> 00:19:45,680
Speaker 1: want to fight, fight for our loved ones, fight for ourselves.

338
00:19:45,960 --> 00:19:48,119
Speaker 1: I don't think there's a decision to become an advocate.

339
00:19:48,320 --> 00:19:52,639
Speaker 1: I think it automatically happens when we come back. Robert

340
00:19:52,720 --> 00:19:55,320
Speaker 1: Langrith talks about the future of treatments for A l

341
00:19:55,520 --> 00:20:03,720
Speaker 1: S and other uncommon diseases. Bob the Webbers and other

342
00:20:03,840 --> 00:20:09,160
Speaker 1: families who are suffering from a L S have rallied

343
00:20:09,240 --> 00:20:13,479
Speaker 1: the FDA for more rapid approval of these experimental drugs,

344
00:20:13,560 --> 00:20:16,240
Speaker 1: and there's been a lot of tension in back and

345
00:20:16,320 --> 00:20:19,960
Speaker 1: forth over that. Can you describe what's happening in the

346
00:20:20,040 --> 00:20:23,480
Speaker 1: f d A when it comes to deciding whether or

347
00:20:23,520 --> 00:20:28,520
Speaker 1: not to release a drug earlier than it normally would. Yeah,

348
00:20:28,640 --> 00:20:32,400
Speaker 1: So what's happening is that a LS activists they want

349
00:20:32,400 --> 00:20:35,760
Speaker 1: to see lots of new drugs for a LS, just

350
00:20:35,840 --> 00:20:38,199
Speaker 1: like there in recent years have been just lots of

351
00:20:38,200 --> 00:20:41,399
Speaker 1: new drugs for various types of cancer. The debate is

352
00:20:41,480 --> 00:20:43,720
Speaker 1: over like how much should the standards, you know, be

353
00:20:43,760 --> 00:20:46,200
Speaker 1: a lesson. You don't want to put something that doesn't

354
00:20:46,240 --> 00:20:48,800
Speaker 1: work on the market. You could actually inhibit the development

355
00:20:48,800 --> 00:20:52,320
Speaker 1: of actually effective therapies. Why does the FDA draw this

356
00:20:52,440 --> 00:20:56,479
Speaker 1: distinction between cancer treatments which can be approved on an

357
00:20:56,480 --> 00:21:00,560
Speaker 1: accelerated basis, and diseases like a L S, where it can't.

358
00:21:00,600 --> 00:21:04,480
Speaker 1: What's the difference there from the FDA's perspective, not that

359
00:21:04,680 --> 00:21:08,240
Speaker 1: drugs and other diseases can't use the accelerator process. It

360
00:21:08,359 --> 00:21:12,639
Speaker 1: just that the accelerator process is much more controversial and

361
00:21:12,720 --> 00:21:15,680
Speaker 1: some of these other diseases that much less is known about.

362
00:21:17,080 --> 00:21:21,520
Speaker 1: Biogen had a drug for Alzheimer's which they pressed very

363
00:21:21,560 --> 00:21:23,959
Speaker 1: hard for early approval, and it was approved, and that

364
00:21:24,080 --> 00:21:27,199
Speaker 1: caused quite a big controversy, didn't it. Yeah, So the

365
00:21:27,240 --> 00:21:30,760
Speaker 1: Biogen had a drug for Alzheimer's that they did not

366
00:21:31,359 --> 00:21:35,520
Speaker 1: clearly show i was effective in slowing disease, and two

367
00:21:35,720 --> 00:21:39,320
Speaker 1: large trials one showed it slowed the disease slightly and

368
00:21:39,320 --> 00:21:42,159
Speaker 1: the other showed no effect. But it was able to

369
00:21:42,200 --> 00:21:46,120
Speaker 1: get the drug approved using the accelerated process because at

370
00:21:46,160 --> 00:21:49,879
Speaker 1: lower levels of a bad brain protein called brain amyloid.

371
00:21:49,920 --> 00:21:53,520
Speaker 1: And that was just extraordinarily controversial because of the contradictory

372
00:21:53,680 --> 00:21:56,480
Speaker 1: results on whether it actually slowed the disease. And even

373
00:21:56,520 --> 00:22:00,000
Speaker 1: if one of these drugs is approved on an accelerated basis,

374
00:22:00,119 --> 00:22:03,960
Speaker 1: sometimes insurers don't want to pay for it and some

375
00:22:04,040 --> 00:22:07,879
Speaker 1: doctors are hesitant to prescribe them. Yeah, that's something that

376
00:22:07,920 --> 00:22:11,359
Speaker 1: can happen. Yeah, the situation for neurological diseases is so

377
00:22:11,480 --> 00:22:13,719
Speaker 1: new that it's not clear, you know, how it's going

378
00:22:13,760 --> 00:22:17,640
Speaker 1: to play out. Certainly with the case of Biogen's Alzheimer's drug,

379
00:22:17,680 --> 00:22:22,560
Speaker 1: agile Helm, essentially medicare the program for the elderly declined

380
00:22:22,760 --> 00:22:26,480
Speaker 1: to cover an a broad basis, citing the lack of

381
00:22:26,600 --> 00:22:30,639
Speaker 1: proof that it's low clinical decline. What did Biogen say

382
00:22:30,720 --> 00:22:35,200
Speaker 1: about the response to it's Alzheimer's drug. Basically, they've vigorously

383
00:22:35,240 --> 00:22:39,680
Speaker 1: campaigned to get Medicare to cover their Alzheimer's drug, agire Helm,

384
00:22:39,760 --> 00:22:42,679
Speaker 1: but it ultimately refused and they were very disappointed by

385
00:22:42,720 --> 00:22:47,480
Speaker 1: that decision. So what now is the status of Toberson,

386
00:22:47,600 --> 00:22:50,320
Speaker 1: the A L S drug that Biogen is developing. So

387
00:22:50,480 --> 00:22:54,040
Speaker 1: it has been submitted to the US Food and Drug Administration.

388
00:22:54,280 --> 00:22:57,000
Speaker 1: We are waiting a decision by the US Food and

389
00:22:57,040 --> 00:23:00,159
Speaker 1: Drug Administration, and the company has also submit to the

390
00:23:00,240 --> 00:23:03,560
Speaker 1: drug to regulators in Europe. So there should be a

391
00:23:03,600 --> 00:23:06,800
Speaker 1: lot of action on it early in bob in the

392
00:23:06,840 --> 00:23:11,560
Speaker 1: best case scenario, what can we expect from to person?

393
00:23:12,040 --> 00:23:15,720
Speaker 1: The Webber family had mixed results. It was unclear whether

394
00:23:16,280 --> 00:23:19,960
Speaker 1: Cynthia Webber and her brother received a placebo or the

395
00:23:20,040 --> 00:23:24,679
Speaker 1: actual drug. What do we know about its effectiveness and

396
00:23:25,200 --> 00:23:28,560
Speaker 1: what people suffering from this form of als can expect

397
00:23:28,600 --> 00:23:31,919
Speaker 1: from this drug? And so Biogen's drug to Person and

398
00:23:31,960 --> 00:23:35,879
Speaker 1: its main trial after six months did not clearly show

399
00:23:35,960 --> 00:23:39,960
Speaker 1: a difference in slowing functional decline between drug and placebo

400
00:23:40,000 --> 00:23:43,840
Speaker 1: after six months. However, big and reported continued studying the

401
00:23:43,920 --> 00:23:47,160
Speaker 1: drug after the official main part of the trial was over,

402
00:23:47,600 --> 00:23:51,879
Speaker 1: and in June it reported that people who could receive

403
00:23:51,920 --> 00:23:54,840
Speaker 1: the drug early on had less decline than those who

404
00:23:54,840 --> 00:23:57,120
Speaker 1: had originally been on placebo and got switched to drug

405
00:23:57,240 --> 00:24:01,159
Speaker 1: drug later. And the drug also lowers level of a

406
00:24:01,160 --> 00:24:06,040
Speaker 1: blood protein called neurofilment that is released when nerve cells

407
00:24:06,080 --> 00:24:09,800
Speaker 1: are damaged or dying. And it's this lowering of levels

408
00:24:09,840 --> 00:24:12,760
Speaker 1: of neurofilment the drug is ability to do that. Biologen

409
00:24:12,840 --> 00:24:18,160
Speaker 1: is seeking approval accelerated approval upon and do you think

410
00:24:18,160 --> 00:24:22,120
Speaker 1: that that will happen with Toeferson Bolgin has already completed

411
00:24:22,119 --> 00:24:24,760
Speaker 1: the longer term trial that showed that it failed in

412
00:24:24,840 --> 00:24:28,200
Speaker 1: its main goal and then showed, you know, more promising

413
00:24:28,240 --> 00:24:31,000
Speaker 1: results on the extension of the trial. But it's seeking

414
00:24:31,040 --> 00:24:35,640
Speaker 1: approval accelerator approval based on the ability to slow bio markers.

415
00:24:35,680 --> 00:24:38,359
Speaker 1: So it's really hard to predict exactly what's going to happen.

416
00:24:39,359 --> 00:24:42,320
Speaker 1: Robert Langreth, thanks so much for speaking with me today.

417
00:24:42,359 --> 00:24:46,040
Speaker 1: Thank you. You can read Robert Langreth reporting on a

418
00:24:46,160 --> 00:24:49,680
Speaker 1: L S at Bloomberg dot com. Thanks for listening to

419
00:24:49,800 --> 00:24:52,080
Speaker 1: us here at The Big Take, the daily podcast from

420
00:24:52,119 --> 00:24:54,879
Speaker 1: Bloomberg and I Heart Radio. For more shows from my

421
00:24:54,960 --> 00:24:58,200
Speaker 1: Heart Radio, visit the heart Radio app, Apple Podcasts, or

422
00:24:58,280 --> 00:25:01,479
Speaker 1: wherever you listen. Read Day Story and subscribe to our

423
00:25:01,520 --> 00:25:04,840
Speaker 1: daily newsletter at Bloomberg dot com slash Big Take, and

424
00:25:04,920 --> 00:25:07,760
Speaker 1: we'd love to hear from you. Email us with questions

425
00:25:07,800 --> 00:25:10,800
Speaker 1: or comments to Big Take at Bloomberg dot net. The

426
00:25:10,880 --> 00:25:14,800
Speaker 1: supervising producer of The Big Take is Vicky Bergelina. Our

427
00:25:14,840 --> 00:25:19,800
Speaker 1: senior producer is Catherine Fink. Our producers are Mal Barrow

428
00:25:20,240 --> 00:25:25,639
Speaker 1: and Michael Falero. Rafael l'm seley is our engineer. Original

429
00:25:25,720 --> 00:25:30,680
Speaker 1: music by Leo Sidrin. We'll be taking a break next week,

430
00:25:30,960 --> 00:25:35,960
Speaker 1: back with fresh episodes starting Tuesday, January three. In the meantime,

431
00:25:35,960 --> 00:25:38,760
Speaker 1: please check out some of the shows you might have missed.

432
00:25:39,240 --> 00:25:41,520
Speaker 1: Thanks again for listening. I hope you have a great

433
00:25:41,520 --> 00:25:41,920
Speaker 1: new year.