FDA on Tuesday approved a new treatment for Friedreich's ataxia, a rare and debilitating disease, using data collected from patient communities over decades, Amy Dockser Marcus writes for the Wall Street Journal — a move that opens a potential pathway for other rare disease treatments to gain approval.

FDA approves new treatment for Friedreich's ataxia

Friedreich's ataxia is a neurological disorder that causes progressive damage to the spinal cord, muscle weakness, and movement problems. It often kills those who have it by the age of 35. Currently, there are only around 22,000 people with the condition worldwide, with most being in the United States, Europe, and Australia.

On Tuesday, FDA approved Reata Pharmaceutical's drug omaveloxolone or Skyclarys to treat Friedreich's ataxia in individuals ages 16 and older. Although the agency typically requires results of two clinical trials showing a drug's efficacy for approval, it approved omaveloxolone with data from only one trial.

According to Jennifer Farmer, CEO of the Friedreich's Ataxia Research Alliance (FARA), it is often difficult to find enough patients to run more than one clinical trial for a rare disease treatment. For Reata's clinical trial, there were 103 eligible patients, many of whom traveled hundreds of miles or more to reach trial sites.

Instead of running another trial, Reata submitted data from a "natural history" study that collected information from patients with Friedreich's ataxia for over 20 years. Unlike a clinical trial, which tests a drug in patients, natural history studies have patients undergo a series of tests every year to track the progression of their disease.

The study submitted by Reata was started by FARA in 1999 and has collected data from more than 1,300 patients so far. There are also efforts to expand the project by combining natural history studies from the United States and Europe.

Using data from the clinical trial and the natural history study, Friedreich's ataxia clinicians and Reata found that people who received the drug and continued to take it for three years slowed their disease progression by almost 55% compared to similar patients in the natural history study who had not received the treatment.

"The data collected in the natural history study were critical to showing the drug's benefit," said Reata CEO J. Warren Huff. According to the company, it plans to charge $370,000 a year for omaveloxolone, which patients should be able to access through either insurance or a patient-assistance program.

How natural history studies could help rare disease treatments win approval

Although data from two clinical trials is usually required to ensure that positive results are replicable, FDA has said that it is willing to approve new treatments based on results from one trial, as well as "confirmatory evidence" that the treatment is effective.

Last year, FDA approved Amylyx Pharmaceutical's Relyvrio therapy for amyotrophic lateral sclerosis or Lou Gherig's disease based off one clinical trial, as well as an additional analysis of the people in the trial who continued the treatment and lived longer than expected.

For its part, FDA has encouraged patient groups to begin natural history studies to collect more data on certain rare diseases. The FDA-backed Rare Diseases Cures Accelerator-Data and Analytics Platform has also collected patient data for many rare diseases, including from natural history studies and clinical trials.

"For many rare diseases, natural history studies are a necessary step to getting a treatment," said David Lynch, principal investigator of the natural history database and director of the Friedreich's ataxia program at Children's Hospital of Philadelphia.

Health advocates say that data collected from patients can be a strong base of evidence for researchers hoping to show that their treatments for rare conditions are effective and beneficial to patients.

"Data created by patient communities can be regulatory grade," said Annie Kennedy, chief of policy, advocacy and patient engagement at the EveryLife Foundation for Rare Diseases. "[Omaveloxolone's] approval is proof of that principle." (Marcus, Wall Street Journal, 3/1)