Nothing worries parents more than a sick infant--especially when nobody can figure out what's wrong. For Asher Gould's parents, the uncertainty lasted for the first three years of their son's life. Asher's older brother Sam, now 10, has always been pretty healthy. But a couple of months after he was born, Asher started having trouble feeding and was spotting his diapers with blood. The pediatrician decided he had an allergy to milk. Then, at 9 months, he couldn't crawl or sit up. The diagnosis this time was hypotonia, a vague term that basically means "poor muscle tone." With physical therapy, Asher walked...

Read More: Health: When Cells Stop Working

Scientists at The Scripps Research Institute, The California Institute of Technology (Caltech) and Texas A & M University Health Science Center have reported that a synthetic molecule that binds the expanded GAA-TCC repeat sequences in the gene associated with Friedreich's ataxia (frataxin) increases expression of this gene in a cell line derived from a Friedreich's patient, with a corresponding increase in frataxin protein. This paper, published in the Proceeding of the National Academy of Sciences of the USA, represents a first step towards development of gene-targeted therapeutics for FRDA. The next steps in assessing this molecule as a potential therapeutic will be to ask whether the molecule functions in neuronal cells, and whether the molecule can access the organs affected in Friedreich's ataxia — the brain and heart. These questions are being explored in animal studies, being conducted both at Caltech and in collaboration with scientists in Brussels, Belgium. We will also want to know if the molecule increases frataxin expression in the brain and heart in a mouse model for FRDA. If the answers to these questions are positive, then other animal studies will be needed to assess the safety of this molecule prior to any thought of clinical trials. So although encouraging, this work is a first step in the long road toward development of a therapy that increases frataxin protein in our patients. This is very important research because there is a belief that by increasing frataxin protein in patients with Friedreich's ataxia that it may slow or stop progression of the disorder. The article, "DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA-TTC repeats in Friedreich's ataxia," can be found online at http://www.pnas.org or (Burnett et al., Proceedings of the National Academy of Sciences of the USA, volume 103, pages 11497-11502, 2006).

Orphan Drug Designation for Inherited Mitochondrial Respiratory Chain Diseases

Edison Pharmaceuticals, Inc. announced today that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to EPI-A0001 for treatment of inherited mitochondrial respiratory chain diseases. These mitochondrial diseases today affect an estimated
60,000 individuals.

Washington, D.C. — National Institutes of Health (NIH) researcher Dr. Nicholas Di Prospero has reported that his team has reached the midpoint of its phase II clinical trial of Idebenone at the National Institute of Neurological Disorders and Stroke (NINDS).

Dr. Di Prospero’s team has examined and tested each of the 48 Friedreich’s ataxia patients enrolled in the phase II clinical trial of Idebenone at NINDS which is part of NIH. The same patients will begin returning for their second and final visits (six months after their first). The second visits will conclude in August and the phase II trial will be over. Dr. Di Prospero’s team will then analyze and publish the results of the study.

Dr. Di Prospero and the NINDS team indicated they want to thank all of the families that expressed interest in the trial, those that sought enrollment and those that have participated. On behalf of all Friedreich's ataxia families everywhere, FARA would like to add its own gratitude to Dr. Di Prospero, the fine NINDS team and to the participating families for making this important clinical trial possible and for keeping it on schedule and on track.

Contact

Ronald Bartek
President, Friedreich’s Ataxia Research Alliance
(703) 413-4468
fara@FAResearchAlliance.org