Barth Syndrome Chairman Appeals to the FDA For Appropriate Guidelines When Approving Drugs for Ultra-Rare Diseases

According to an article submitted to StatNews by members of the Barth Syndrome Foundation, the FDA approved the drug Aduhelm in accordance with its accelerated approval program. Although the treatment appears to be a breakthrough, the general consensus is that there is a need for more concrete and positive evidence to back the approval. The cost of the drug is another disturbing factor to many people. The move met with criticism throughout the nation, calls for reform within the FDA, and a letter from Emily Milligan who is the executive director of Barth. The foundation was created in memory of the son of Katherine McCurdy, the foundation’s chairman.

Barth syndrome is an extremely rare genetic disorder that currently affects 130 children and young people living in the United States. Members at the foundation are concerned that the criticism about Aduhelm will prompt the FDA to be less flexible in its standards for approving new effective and safe therapies.

The foundation’s letter to the FDA commends the agency for its flexibility in reviewing drugs that treat rare diseases. Then it cautions the agency against losing the progress that has been made in implementing flexible regulatory strategies.

The letter emphasizes that adding more barriers to FDA approvals will no doubt produce a reluctance by investors with respect to biomedical innovation and especially to therapies for rare diseases.

The foundation’s letter highlights the seven thousand rare diseases with no approved treatments. In total that represents about thirty million Americans.

Variability in Treatment for Barth Syndrome

Elamipretide, sponsored by Stealth BioTherapeutics, appears to be a promising therapy for Barth syndrome. The FDA has requested that the sponsor, Stealth BioTherapeutics, target a new clinical design for its trials with increased participants in order to support the statistical analyses of the effectiveness of the drug.

And yet, considering that Barth syndrome is exceptionally rare, the FDA agrees that it would be almost impossible to meet those qualifications.

Elamipretide has been proven to be safe, yet the FDA’s approach to the drug is entirely inconsistent with its previous practices. If all things remain the same, patients with Barth syndrome will be denied access to a therapy that could have changed their lives.

The foundation directors point out that in Barth syndrome the powerhouses of a cell, mitochondria, result in Barth’s characteristic symptoms such as the patient being vulnerable to infection, a weakened heart, fatigue that is debilitating, and issues with the gastrointestinal tract.

Researchers who were associated with the foundation requested that Stealth BioTherapeutics conduct tests investigating elamipretide’s effect on Barth syndrome. The drug was tested and demonstrated its ability to normalize a substance that mitochondria require in order to generate energy for the body.

The normalization brought about a positive effect on the cardiac structure of people who have Barth syndrome.

But people who oppose the FDA’s approval of Aduhelm are urging the FDA to return to traditional guidelines that are based on mortality or morbidity.

It is the opinion of many members of the Barth foundation that traditional guidelines are not appropriate for very rare diseases. The chairman and members are asking the FDA to consider that there are very few rare disease patients available to enroll in clinical trials. Therefore, analyzing data just for statistical purposes is definitely not appropriate for extremely rare diseases.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email