Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...

FARAFARA Cure FA

 

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.

 


 

Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery

Iron-Sulphur clusters, essential cofactors needed for the activity of many different enzymes, are assembled by conserved protein machineries inside bacteria and mitochondria. As the architecture of the human machinery remains undefined, we co-expressed in E. coli four proteins involved in the initial step of Fe-S cluster synthesis: FXN42-210 (iron donor), [NFS1]-[ISD11] (sulfur donor), and ISCU (scaffold upon which new clusters are assembled). We purified a stable, active complex consisting of all four proteins with 1:1:1:1 stoichiometry.

Read the entire article HERE

Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study

Friedreich ataxia (FRDA) is traditionally associated with neuropathology in the cerebellar dentate nucleus and spinal cord. Growing evidence also suggests involvement of the cerebral and cerebellar cortices, although reports of structural abnormalities remain mixed. This study assessed the structural integrity of cortical grey matter in FRDA, focussing on regions in which pathology may underlie the motor deficits characteristic of this disorder. T1-weighted anatomical magnetic resonance imaging scans were acquired from 31 individuals with FRDA and 37 healthy controls. Cortical thickness (FreeSurfer) and cortical volume (SPM-VBM) were measured in cerebral motor regions-of-interest (primary motor, dorsal and ventral premotor, and supplementary motor areas) alongside unconstrained exploratory analyses of the cerebral and cerebellar cortices. Correlations were assessed between cortical thickness/volume measures and each of disease severity, length of the causative genetic triplet-repeat expansion, and finger-tapping behavioural measures.

Read the entire article HERE

Voice in Friedreich Ataxia

BACKGROUND:
Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs.

OBJECTIVE:
To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy.

METHODS:
Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech and voice samples were analyzed acoustically using the Analysis of Dysphonia in Speech and Voice program and perceptually using the Consensus Auditory-Perceptual Evaluation of Voice form. Correlations between dysphonia and overall dysarthria severity, demographic, clinical, and genetic information were explored.

RESULTS:
Individuals with FRDA presented with mild dysphonia characterized by hoarseness (combined roughness and breathiness), increased strain, and altered pitch variability (increased in vowel productions; slightly decreased on reading samples). Acoustically, individuals with FRDA had significantly higher scores on the Cepstral Spectral Index of Dysphonia during vowel production. A combination of perceptual and acoustic measures of dysphonia used in this study was quite effective in categorizing the FRDA versus control participants, with >80% overall accuracy.

Read the entire article HERE

Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia

Thiamine (vitamin B1) is a cofactor of fundamental enzymes of cell energetic metabolism; its deficiency causes disorders affecting both the peripheral and central nervous system. Previous studies reported low thiamine levels in cerebrospinal fluid and pyruvate dehydrogenase dysfunction in Friedreich ataxia (FRDA). We investigated the effect of long-term treatment with thiamine in FRDA, evaluating changes in neurological symptoms, echocardiographic parameters, and plasma FXN mRNA levels. Thirty-four consecutive FRDA patients have been continuously treated with intramuscular thiamine 100 mg twice a week and have been assessed with the Scale for the Assessment and Rating of Ataxia (SARA) at baseline, after 1 month, and then every 3 months during treatment.

Read the entire article HERE

Agilis Biotherapeutics Announces FDA Orphan Drug Designation for the Treatment of Friedreich’s Ataxia (FA)

Agilis announces today that the United States Food and Drug Administration (FDA) has granted Orphan Drug Designation to Agilis’ gene therapy product candidate, AGIL-FA, being developed for the treatment of Friedreich’s ataxia (FA). AGIL-FA is a gene-therapy product consisting of a unique gene construct developed in partnership with Intrexon Corporation (NYSE: XON) delivered with adeno-associated virus technology. Orphan Drug Designation is important for industry sponsors working in the rare disease space as it offers development and commercial incentives. FARA has been working closely with the Agilis team since the company launched in 2013, we look forward to continuing our partnership to advance this important potential therapy, as well as supporting research to identify biomarkers and clinical outcome measures, which will advance the development of the product candidate into clinical trials.

Read the entire Press Release HERE

Page 7 of 129

SHARE

FacebookTwitterLinkedinShare on Google+
Science C.jpg

 

Archived in
  Scientific News


 

 

Tagged in
FARA Scientific News