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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.

 


 

Two new Pfizer-coauthored studies validate Novoheart’s pioneering human bioengineered heart tissues and chambers for improving drug development

Published in the July 2019 issue of Stem Cell Research and Therapy2, Novoheart developed the world's first customized, 3D engineered, human cardiac tissue models of Friedreich's ataxia (FRDA), a rare neuromuscular degenerative disease that affects over 1 in 50,000 people worldwide. FRDA patients have a defective Frataxin gene, which often leads to lethal heart complications. This new disease model, based on MyHeartTM assays, was created using genetically modified as well as FRDA patient-derived cells, capturing both electrical and mechanical defects of the heart observed in FRDA patients.

This new approach marks an important step away from using animals as traditional testing models – they have limited predictive ability for drug discovery due to dramatic differences from human physiology. Novoheart's FRDA models, on the other hand, offer an innovative and powerful human-based platform to develop new therapies for FRDA's cardiac symptoms, for which no effective treatments are currently available.

With sole ownership of the intellectual property rights, Novoheart is now commercializing the FRDA disease model and has subsequently confirmed commercial contracts with multiple drug developers.

Read the Press Release HERE

Read the article HERE

Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series

This is a single center (Robert Debré Hospital, Paris, FR) prospective study describing the radiologic characteristics and evolution of spinal shapes in a pediatric cohort of patients with Friedreich ataxia (FA). Sixty six FA patients were prospectively included between 2008 and 2017. Clinical, functional, and radiologic records were conducted twice a year. Coronal curve types, segmental measurements, and skeletal maturity were assessed. A scoliotic deformity was reported in 71% of the patients at a mean age of 11.7 ± 3.1 years. Average follow-up was 6 years, including 75% of patients with closed triradiate cartilage at latest examination. Mean Cobb angle was 34° ± 2°. Main right thoracic curves were the most frequent curves observed (36%), followed by double major (21%), thoracolumbar and left thoracic curves (13%), main lumbar (11%), and long C-shape curves (6%). Hyperkyphosis (>40°) was present in 66%, with an average kyphosis angle of 50° ± 3°, and anterior misalignment (>5°) occurred in 53%. The severity of the Cobb angle was neither correlated to the FA severity scores nor the age at FA diagnosis. An arthrodesis was performed in 9 patients, including 5 patients (45%) who were ambulatory at least 1 year after surgery. The prevalence of scoliosis in FA was high (71%), and thoracic hyperkyphosis, with anterior misalignment, was frequently observed, which might be related to the anterior imbalance frequently encountered in patients with an ataxia. Posterior fusion including sacral instrumentation was only performed in nonambulatory patients, and the loss of ambulation was not associated with spinal surgery.

Read the entire article HERE

Friedreich ataxia- pathogenesis and implications for therapies

This is a review article focusing on the insights into the pathogenesis of this disorder and how those insights are being translated into novel therapeutic approaches. For example, more recently, a role for inflammation has emerged as being important in the pathogenesis of Friedreich ataxia. These findings have led to a number of potential therapies that have been subjected to clinical trials or are being developed toward human studies. Therapies that have been proposed include pharmaceuticals that increase frataxin levels, protein and gene replacement therapies, antioxidants, iron chelators and modulators of inflammation. While no therapies have yet been approved for Friedreich ataxia, there is much optimism that the advances in the understanding of the pathogenesis of this disorder since the discovery its genetic basis, will result in approved disease modifying therapies in the near future.

Read the entire article HERE

The Working Life of People with Degenerative Cerebellar Ataxia

The aim of the present study was to characterize and analyze the most important individual and organizational variables associated with job accommodation in subjects with degenerative cerebellar ataxia by administering a series of international and validated work activity-related scales. Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant ataxia and 48 with autosomal recessive ataxia (27 with Friedreich ataxia and 21 with sporadic adult-onset ataxia of unknown etiology). The severity of ataxia was rated using the Scale for the Assessment and Rating of Ataxia. Our results showed that the ataxic W were predominantly middle-aged (41-50 years), high school graduate, and married men with a permanent work contract, who had been working for more than 7 years. The W with ataxia exhibited a good level of residual working capacity, irrespective of gender, age range, and duration of the disease, and they were observed to have a low or average-to-low job stress-related risk. Supporting patients with ataxia to find an appropriate job is an important priority because about 78% of NW search for a job and W and NW have the same potential work abilities (no relevant differences were found in terms of disease characteristics, gender, and work resilience). In this view, introducing NW to work-life may have a potential rehabilitative aspect. Findings of this study highlight that equal job opportunities for subjects affected by cerebellar ataxia are recommended.

Read the entire article HERE

Backbone resonance assignments and secondary structure of the apo-Drosophila melanogaster frataxin homolog (Dfh)

Frataxin plays an essential role in cellular iron regulation and has been shown to participate in the assembly of iron-sulfur (Fe-S) clusters under a variety of roles, including modulating persulfide production and directing Fe(II) delivery to the assembly scaffold protein. While the activity and structure of multiple eukaryotic frataxin orthologs have been characterized, the fly ortholog has numerous advantages over other orthologs with regards to protein stability, its activity towards Fe-S cluster assembly and its stability for forming stable proteins partner assemblies. Given the obvious advantages for studying the Drosophila melanogaster frataxin homolog (Dfh) over its orthologs, we have undertaken a structural characterization of apo-Dfh as the first step towards solving the solution structure of the protein alone and in complex with protein partners within the Fe-S cluster assembly pathway.

Read the entire article HERE

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