Parents are dismayed after FDA rejects experimental drug 4-year-old girl relies on

Yahoo

a day ago

A family thought they had a life-changing drug for their 4-year-old daughter. Then the FDA rejected it.
Channel 2's Michael Doudna heard from the girl's parents.
For Hope Filchak, her daily routine includes a daily shot to help provide a normal life. However, soon the drug may go away.
'It's scary to think she might not have this in just a few months,' Caroline Filchak, Hope's mother, said.
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Hope was born with a rare mitochondrial disease that impacts fewer than 100 people in the world. The impacts are wide-ranging and a challenge to overcome.
'From early on, it was an uphill battle for Hope,' Caroline Filchak said. 'I think she's got 12 specialists that we see in three different states.'
'It affects her brain, her heart, her eyes and her ears, deafness, blindness, and then two heart defects,' Ben Filchak, Hope's father, said.
There are no FDA-approved drugs for Hope's condition.
So when heart troubles arose in 2024, the family was forced to turn to an experimental drug, elemipretide, and saw immediate improvement.
'Her energy increased, and her heart function has stabilized completely,' Ben Fiilchak said.
However, last month, the FDA declined to give it approval.
'I would say that the FDA is trying to regulate two things, right. They're trying to make sure the products are safe, including drugs, but also that they are efficacious for people,' said Rossana Sanchez Russo, an Emory clinical geneticist.
According to the parent company producing the drug, the FDA's rejection was in part because the FDA did not see an improvement in a six-minute walk test.
'We all know in the field that a six-minute walk test is not the be-all end-all outcome measure for mitochondrial diseases,' Amy Goldstein, a leading mitochondrial disease expert, said.
She says the drug showed improvement in areas such as quality of life and cardiac health.
'I myself personally saved a baby in my cardiac ICU with Barre syndrome. He went home with no cardiac manifestations after arriving here in severe heart failure and needing a heart transplant,' Goldstein said. 'We were extremely disappointed that based on all of the data, they made the decision not to approve the drug.'
Another hurdle rare disease drug testing faces is sample size.
By its very nature, only a few people have these diseases, so getting a meaningful sample during clinical trials can be difficult.
'Sometimes we don't have enough burden of proof to be able to formally say that. That doesn't mean that it may not be working for a family or that it might not work for other conditions. It may mean that we just do not have all the data,' Sanchez Russo said.
The FDA says the company behind the drug can reapply for approval, but it is unclear if it will be successful and how long the company can stay committed to producing a drug without the FDA giving an OK.
Hope's family has a four-month supply of the drug left. However, they do not know how much longer access to the medicine will last.
'Hope is a special little girl, and she means so much to our family,' Caroline Filchak said.
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