Patients with very fiery diseases worry about the rules of new food and drug management will leave them without treatment | Medical research

U.S. drug organizers have indicated that the fastest approvals and rare diseases, but patients with very rare diseases are afraid to skip through cracks, especially given the challenges facing clinical trials.

One of the drugs, Elamipretide, obtained a narrow recommendation from independent US Food and Drug Administration (FDA), but the agency rejected the application of the drug in May and recommended another possible path to approve it.

Patients and preachers worry about new rules about who might receive the drug during this process, and whether the drug will reach approval before the pharmaceutical company runs out of financing.

It emphasizes the challenges of making progress in rare and elegant diseases while ensuring that treatments are safe and effective.

Hope Filchak is a harsh child at four thirty years old and loves to swim in lakes and swimming pools near her home in Gynezville, Georgia. It is also deaf and blind, with some functional vision in one eye and hearing with the help of one ear. Al -Amal was born with a very rare mitochondria called MLS syndrome, which was only there 64 documented cases In the United States as of 2018.

MLS syndrome, in hope, in the state of the heart that can threaten life and which is called myocardial disease, which can make its heart its heart less efficient. In February 2024, she started sleeping about 17 hours a day, and her speech began to decline.

The Echo Plan has revealed that the Hope heart function has decreased about 14 percentage points, to a possible dangerous area. Then I started taking elamipretide, which is a survey of mitochondria conditions.

“Very soon, frankly, she had a lot of energy,” said her mother, Caroline Fishak. More importantly, her heart settled.

Anna Power, the aunt of hope, said that “the quality of the life of her sister’s daughter was greatly improved,” and shortly after, she was “running, dancing, and playing” like any other child of her age.

It was first developed in 2004, Elamipretide has a long history. Patient defenders who suffer from Barth syndrome – another condition of mitochondria with about 150 well -known patients – asked the ghost biological treatments to capture the drug in 2014 and sponsor it through the organizational process. Stealth submitted her first request to the FDA (FDA) in 2019, then passed four different review sections at the agency.

In October 2024 interview Among the Consulting Committee for Cardiovascular and Vascular Medicines in the Food and Drug Administration, patients and doctors talked about the positive effects of the drug, and the advisors eventually voted 10-6 to recommend it.

He saw patients and families [advisory committee’s] “But last month, he did not do,” Power said in June. It was not the case, but excessive support as an encouraging sign because the Food and Drug Administration always followed its recommendation.

The Food and Drug Administration rejected the application in May. Internal auditors in the Food and Drug Administration male The medicine did not succeed the end point in the experiments of the second stage of 12 participants in the study.

“We do not feel that they looked at a set of evidence in which the patient’s voice heard about the decision,” said Caroline Filchak, who added that it was difficult to measure the effectiveness of the drug.

Stealth said in A. press release. This process takes at least eight months, although it may take years. The ghost is demobilized 30 % of its employees after rejection.

Defenders like Filchak are concerned that the company will not be able to continue to follow up.

“if [the FDA] Pull their feet as if during this entire process, the ghost will not be able to continue the operations. “

Under the new path, the drug is not available for infants. The ghost has He said That 35 patients around the world receive the medicine, and one -third of them from very sick infants.

At a hearing in Congress in late June, Republican actor Earl L “Friends” Carter from Georgia Robert Kennedy Junior, the US Secretary of Health and Humanitarian Services, asked about the treatments of rare mitochondria conditions.

Carter mentioned two young components with these conditions, including hope. Carter said that the children “need to help you access life -saving drugs,” and promised to follow Kennedy after the session.

Currently, Hope has a three -month supply of medication.

“For children like hope, there are no other options,” Power said. There are no drugs accredited by the Food and Drug Administration such as Elamipretide, and there are no similar drugs in the development of the late stage.

Caroline Fishak said this administration “has a specific commitment to accelerate treatments for rare diseases. It appears that this recent decision made by the FDA is not in line with this commitment.”

Marti Makary, FDA Commissioner, has announced plans to accelerate the approval of medicines and selected companies. He also has Float Using machine learning, which is often called artificial intelligence, to review the applications quickly.

But there is already Four ways Filchak said that FDA to accelerate the review of new drugs, and the speed of approval is not the adhesion point for medicines like this.

Holly Fernandez Lynch, an ethics at the University of Pennsylvania Berlman, said the Islamite is an example of the difficulty of developing medicines for very fire conditions-for approval based on clinical evidence.

“It is not the adherent child for the efficiency of the FDA,” said Fernandez Lynch.

“But this is also not the sticked child.” Oh my God, we have a surprisingly working medicine, and FDA stands on the way, and why do they not use their organizational flexibility? “

Fernandez Linch added that the drug has not yet been approved because it had not met with a pre -ended point.

The Biotechnology Company is now re -providing data on improving knee strength as part of its new application.

“Of course, these patients have a need,” said Fernandez Lynch.

“This is the truly destructive part of all of this. It is really worry, but this does not mean that the FDA must grant approval to a product that did not appear effectively, because we don’t really know that he is working.”

Fernandez Lynch said that approval of a drug without this evidence could lead to issues of developing other drugs for the same conditions.

People say, “Well, what is the big deal? These patients have nothing. Just let them try it. “I got it.

For Caroline Fishak, who works for the Petroleum Delivery Company, plans to continue calling for her daughter and other affected children – she participated in all family members.

She said, “No, when you think about having a child, you think you will do it, but you are doing what you should do for your children,” noting that she and her husband, Ben, took their seven -year -old son, Thomas, to the October meeting.

“We call him our child’s defender. Since that meeting, every night he says his prayers, he was praying to say FDA” Yes. “