FARA - Scientific News

Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.

Mortality in Friedreich's Ataxia

Friedreich's ataxia is the most common hereditary neurodegenerative disorder, and more than half of all patients show echocardiographic evidence of cardiomyopathy. Although angina has been reported in these patients, the role of coronary artery disease has previously been dismissed and is therefore underestimated. Premature obstructive coronary disease has rarely been angiographically demonstrated in patients with Friedreich's ataxia. We present an unusual case of a 35-year-old woman with Friedreich's ataxia who presented with intermittent chest pressure associated with dyspnea and diaphoresis.

Cardiac catheterization revealed a chronically occluded left circumflex coronary artery and a high-grade stenosis of the left anterior descending coronary artery. A Cypher stent, placed within the left anterior descending artery, left no residual stenosis. This case illustrates the importance of fully investigating anginal symptoms in patients with Friedreich's ataxia, because coronary artery disease is likely underdiagnosed in this population. Early diagnosis may permit aggressive management and may delay the progression to end-stage cardiomyopathy.

Results Announced Phase I/II Study of Deferiprone

A team of researchers from the “Medical Genetic Clinic and Research Unit” Inserm Unit 781 directed by Arnold Munnich (Necker - Sick Children’s Hospital, Paris) in collaboration with Ioav Cabantchik (Hebrew University, Jerusalem) have just obtained promising results for the treatment of neurological damage from Friedreich Ataxia, the most frequent of hereditary ataxias. Movement coordination, speech as well as certain sensory disorders were improved under the effect of deferiprone, a molecule which traps the iron accumulated abnormally in certain regions of the brain. These positive results, obtained right from phase I/II of the trail, offer short term therapeutic prospects for this severely disabling disease.

Moonlighting Enzyme Linked To Neurodegenerative Disease

Friedreich's ataxia is one of those diseases few have heard of unless you know someone with the condition. For that individual -- usually a child or teenager -- it is devastating. Symptoms are mild at first: muscle weakness in the arms and legs, vision impairment and slurred speech, but eventually the symptoms progress and most patients become wheelchair-bound and succumb to heart failure later in life. There is no cure at this time, but Mayo Clinic researchers have identified mutations in an enzyme that may contribute to the disease.

Santhera Updates Development Strategy

Santhera Pharmaceuticals (SWX:SANN), a Swiss specialty pharmaceutical company with a focus on neuromuscular diseases, announces today a revised clinical and regulatory strategy aimed at accelerating the development timelines for its lead compound SNT-MC17/idebenone in Friedreich’s Ataxia (FRDA) in the US. These changes are the result of discussions with the FDA (US Food and Drug Administration) following the positive results of the Company’s collaborative clinical trial with the US National Institutes of Health (NIH). It is anticipated that both the number of patients needed for the Phase III clinical study and the trial’s duration could be significantly reduced, thereby shortening the development timelines approximately by half a year as compared to the Company’s previous plans.

NIH and Santhera Announce Positive Results of Study with SNT-MC17

The US National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH) presented results of their recently completed clinical trial with SNT-MC17/idebenone in Friedreich’s Ataxia (FRDA). Data were presented by Dr. Nicholas Di Prospero at the 3rd International Scientific Friedreich’s Ataxia Conference in Bethesda, MD, on November 10 to 12. This six month double-blind, placebo-controlled trial was carried out in collaboration with Santhera Pharmaceuticals, a Swiss specialty pharmaceutical company with a focus on neuromuscular diseases.