Clinical Studies Continue to Recruit Individuals With FA

Clinical Studies Continue to Recruit Individuals With FA
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The Friedreich’s Ataxia Research Alliance (FARA) has shared a list of three clinical studies and one global registry that are open and enrolling people with Friedreich’s ataxia (FA) in the search for more effective therapies.

This rare disease is caused by abnormally low levels of a protein called frataxin due to mutations in the FXN gene. Since frataxin is essential for the normal functioning of mitochondria (the cell’s powerhouses), its deficiency leads to mitochondrial malfunction and oxidative stress — an excessive production of toxic oxygen radicals that cause damage to cellular components.

Oxidative stress in cells, and in mitochondria in particular, is suspected to be one of the primary sources of nerve cell death underlying several degenerative diseases, including Friedreich’s ataxia.

An ongoing Phase 2/3 trial (NCT04102501) is investigating Retrotope‘s oral therapy, RT001. The experimental therapy is designed to prevent damage to the membranes of cells and mitochondria by replacing natural fat molecules with more stable versions that are resistant to oxidative stress.

Designed to recruit a total of 60 patients, the trial, which dosed its first patient in January, is seeking its final 20 participants, ages 12–50, at multiple sites in the U.S. More information about contacts and locations is available here. Those interested may email the study coordinator, Sarah Endemann, at [email protected].

A second study, at the Weill Cornell Medical College, aims to better understand how FA affects the heart. Many FA patients show normal cardiac health until shortly before death, suggesting this muscle has ways to adapt to stresses caused by frataxin loss.

Investigators will evaluate participants via exercise, imaging tests, blood tests, and a non-invasive eye exam called corneal confocal microscopy. Participation includes two visits to the medical school (in New York City) over the course of one year.

The study is looking for 20 participants with FA, ages 12–17, and their unaffected siblings in the same age range. Volunteers will receive rapid COVID-19 screening at the hospital prior to their visit. Financial support also is available to help with travel and lodging expenses.

For eligibility and other information, email the study coordinator at [email protected].

A third study, called IDEA, is testing the use of body-worn sensors as a means to evaluate the progression and severity of ataxia. The project is seeking individuals ages 12–30 who are able to walk 10 feet without an assistive device.

COVID-19 has placed new enrollments on hold temporarily, but phone screening continues to be conducted in preparation for participants’ first clinic visit. Visits will take place every six months for two years at clinics located in Baltimore, Boston, Chicago, Los Angeles, or Portland, Oregon.

For additional information, contact study coordinator Hannah Casey, at [email protected] or (773) 702-4610.

According to FARA, the FA Global Patient Registry (FAGPR) continues to ask patients for their demographics and disease information to improve clinical trial efficiency.

As more people with FA contribute to the registry, researchers, patients, and others will gain a better understanding of how common FA is in different parts of the world, which age groups the disorder affects most, and how symptoms appear and affect different people, among other key pieces of knowledge.

Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
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Inês holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in blood vessel biology, blood stem cells, and cancer. Before that, she studied Cell and Molecular Biology at Universidade Nova de Lisboa and worked as a research fellow at Faculdade de Ciências e Tecnologias and Instituto Gulbenkian de Ciência. Inês currently works as a Managing Science Editor, striving to deliver the latest scientific advances to patient communities in a clear and accurate manner.
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Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
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