A team of researchers from India examined for the first time population-based genetic information of nine Trinucleotide repeat disorders (TRDs). The study entitled “Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR” was recently published in the…
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When testing new compounds to treat Friedreich’s ataxia (FA), it is vital to have a metric for determining the efficacy of these compounds. Some studies have suggested using the iron content of dentate nuclei in the cerebellum as a biomarker for determining the efficacy of siderophores and antioxidants in…
Biopharmaceutical company Shire, is sponsoring a clinical trial for adults with Friedreich’s ataxia (FA) and is currently enrolling participants. The phase 1 clinical trial is evaluating VP 20629 (indole-3-propionic acid) against a placebo to investigate the safety, tolerability, pharmacokinetics, and pharmacodynamics of treatment in FA patients 18 to 45…
Cambridge, Massachusetts based gene therapy startup, Voyager Therapeutics, has announced it will strategically collaborate with of the University of Massachusetts Medical School (UMMS)’s MassBiologics unit to develop scalable process methods using current good manufacturing practices (cGMP) for manufacture of recombinant adeno-associated viral (rAAV) vector treatments for a range of…
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Converting Skin Cells into Sensory Neurons Could Offer Therapeutic Approach For Friedreich’s Ataxia
A research team led by scientists at The Scripps Research Institute (TSRI) in La Jolla, California — one of the world’s largest independent, not-for-profit organizations focusing on research in the biomedical sciences — has discovered a simple method for converting human skin cells into neurons that locate and transmit…
Although Friedreich’s ataxia is a condition with a known cause (a genetic abnormality on chromosome 9 that depletes cells of frataxin protein), some cases of the disease throw clinicians a curve ball. Such was the case for one 48-year-old man with a known diagnosis of Friedreich’s ataxia. He was…
Results are in for an open-label phase 2 clinical trial of interferon gamma (IFN-γ) treatment for Friedreich’s ataxia (FRDA) sponsored by Children’s Hospital of Philadelphia along with collaborators at the Friedreich’s Ataxia Research Alliance and Vidara Therapeutics Research Ltd. David Lynch, MD, PhD, served as the principal investigator. The…
Recent Posts
- Exercise improves fitness for kids, adults with FA, study finds
- Mental health struggles are a part of living with Friedreich’s ataxia
- This FA Awareness Month, I’m focusing on moments of intentional joy
- A powerful performance from the past reminds me that ‘It’s OK’
- Use of skin, cheek cells may help monitor nomlabofusp effects in FA