Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...


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.

Call for Patients with Friedreich’s Ataxia

We are pleased to be able to announce today that Santhera Pharmaceuticals is now recruiting patients with Friedreich’s Ataxia in the United States, for a Phase III clinical research trial looking at the effects of idebenone on the nervous system and the heart.

We are looking for patients between the ages of 8 and 17 years who have been diagnosed with Friedreich’s Ataxia.

To participate, you must be able to.

  • Walk at least 33 feet without accompanying person
  • Not have participated in the Phase II idebenone study sponsored by the NIH

About the study

  • Participation in the study is for 9 months; 6 of those months you will be treated
  • with study medication or placebo (an inactive pill with no drug in it)
  • There are 3 possible treatments: 2 different doses of idebenone or a placebo
  • There are 5 visits to the hospital
    • Travel costs are fully paid for, including hotel

Read More: Call for Patients with Friedreich’s Ataxia

Targeting the gene in Friedreich Ataxia

Pathological expansions of GAA repeats in the first intron of the frataxin gene cause most cases of Friedreich ataxia, a progressively debilitating neurodegenerative disease. The disease is inherited in an autosomal recessive manner and the GAA repeats are suspected to form unusual non B-DNA conformations that decrease transcription and subsequently reduce levels of the encoded protein, frataxin. Recent work has shown that GAA repeats induce heterochromatin formation and silencing of the frataxin gene locus. Frataxin plays a crucial role in iron metabolism and detoxification and interacts with electron transport chain proteins. Clinical trials are currently underway to examine the efficacy of antioxidants in the treatment of Friedreich ataxia, but therapeutics designed to  increase frataxin message levels are still in the developmental stages. This review will focus on the progress of potential treatment strategies for Friedreich ataxia that target the GAA expanded gene and seek to increase the level of frataxin message and protein.

Santhera Announces Start of US Phase III Clinical Trial

Santhera Announces Start of US Phase III Clinical Trial with SNT-MC17 in Friedreich’s Ataxia and Provides Details on Study Design

Initiation of a six month study with 51 FRDA patients and ICARS as primary endpoint expected shortly. Fast-track designation granted by FDA.

Liestal, Switzerland, September 28, 2007 – Santhera Pharmaceuticals (SWX:SANN), a Swiss specialty pharmaceutical company focused on neuromuscular diseases, announced today that it has reached an agreement with the US Food and Drug Administration (FDA) under the Special Protocol Assessment (SPA) procedure relating to the Phase III clinical trial to evaluate SNT-MC17 (INN: idebenone) for the treatment of Friedreich’s Ataxia (FRDA). The protocol incorporates advice provided by the FDA on the design of the study, its endpoints, statistical analysis and conduct. The FDA granted a fast track designation to Santhera’s compound in FRDA.

Read More: Santhera Announces Start of US Phase III Clinical Trial

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.

Read More: Mortality in Friedreich's Ataxia

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.

Read More: Results Announced Phase I/II Study of Deferiprone

Page 192 of 195


Science B.jpg


Archived in
  Scientific News



Tagged in
FARA Scientific News

Site Map     Privacy Policy     Service Terms     Log-in     Contact     Charity Navigator