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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.

 


 

Intermediate-dose idebenone and quality of life in Friedreich ataxia

Idebenone has been used as therapy for Friedreich ataxia for more than a decade. Although several studies have assessed the influence of therapy on neurologic or cardiac function, there is a paucity of data surrounding patient-reported outcome measures. In an observational study of the effect of intermediate-dose idebenone (20 mg/kg per day) on quality of life and neurologic function measures, seven patients with Friedreich ataxia were assessed using the Pediatric Quality of Life Inventory, the International Cooperative Ataxia Rating Scale, and an Activities of Daily Living Scale before initiation of idebenone therapy and after 1 year of therapy.

Intermediate-dose idebenone and quality of life in Friedreich ataxia

Health-related quality of life in children with Friedreich ataxia

The use of health-related quality of life scales as outcome measures in clinical trials is increasing. Although such measures have been validated in adults with Friedreich ataxia, they have not been studied in children with this disorder. The health-related quality of life of children with Friedreich ataxia was assessed using the PedsQL 4.0 Generic Core Module and Multidimensional Fatigue Scale. The scores from the Friedreich ataxia cohort were compared to those of control groups (children without a chronic disease). 

Health-related quality of life in children with Friedreich ataxia

North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion

Friedreich's ataxia (FRDA) is caused by expansion of GAA repeats in the frataxin (FXN) gene on chromosome 9q13-q21.1. We analysed the origin of FRDA in 21 North Indian (NI) and eight South Indian (SI) families using five single nucleotide polymorphisms (SNPs) and a microsatellite marker spanning the GAA repeats. The NI and SI families were derived from Indo-European and Dravidian linguistic backgrounds respectively.

North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

Cells from individuals with Friedreich's ataxia (FRDA) show reduced activities of antioxidant enzymes and cannot up-regulate their expression when exposed to oxidative stress. This blunted antioxidant response may play a central role in the pathogenesis. We previously reported that Peroxisome Proliferator Activated Receptor Gamma (PPARγ) Coactivator 1-alpha (PGC-1α), a transcriptional master regulator of mitochondrial biogenesis and antioxidant responses, is down-regulated in most cell types from FRDA patients and animal models.

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

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