Synthesis, Delivery and Regulation of Eukaryotic Heme and Fe-S Cluster Cofactors

Dulmini P. Barupala, Stephen P. Dzul, Pamela Jo Riggs-Gelasco, Timothy L. Stemmler, Archives of Biochemistry and Biophysics, Available online 16 January 2016, ISSN 0003-9861, doi:10.1016/j.abb.2016.01.010.


With an incidence of 1 in 50,000172,173, and a carrier prevalence of 1 in 100174, Friedreich’s ataxia (FRDA) is by far the most prevalent disease linked to defective Fe-S cluster formation.
FRDA is an autosomal recessive genetic disease caused by a GAA-trinucleotide repeat expansion in an intron of the frataxin gene, a protein involved in the ISC pathway.

Measurement Characteristics and Clinical Utility of the International Cooperative Ataxia Rating Scale in Individuals With Hereditary Ataxias

Maryleen K. Jones, Stephanie A. Combs-Miller, Archives of Physical Medicine and Rehabilitation, Volume 97, Issue 2, February 2016, Pages 341-342, ISSN 0003-9993, doi:10.1016/j.apmr.2015.04.002.

Real-time computer-based visual feedback improves visual acuity in downbeat nystagmus – a pilot study

Julian Teufel, S. Bardins, Rainer Spiegel, O. Kremmyda, E. Schneider, M. Strupp and R. Kalla. Journal of NeuroEngineering and Rehabilitation201613:1 DOI: 10.1186/s12984-015-0109-2

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Many patients with nystagmus (involuntary eye movements) suffer from blurred vision, unstable visual perception and decreased visual acuity (VA), which leads to a decreased quality of life. The etiologies of DBN are diverse.
This study provides proof of concept that non-invasive real-time computer-based visual feedback compensates for the SPV (slow phase velocity) in DBN. Therefore, real-time visual feedback may be a promising aid for patients suffering from oscillopsia and impaired text reading on screen.

Late-onset cerebellar ataxia: Do not forget Friedreich's

Maria Stamelou MD, PhD, Movement Disorders, Volume 31, Issue 1, pages 7–8, January 2016, DOI: 10.1002/mds.26508

One should not forget that FA may present later in life with a predominant nonataxic phenotype, such as with a Huntington’s disease phenocopy. Moreover, future studies should provide larger number of patients and more detailed clinical information on further neurological signs such as cognition or autonomic function.

A Phase II, Open Label Prospective Single Center Drug Study Evaluating the Safety and Efficacy of (+)-Epicatechin in Subjects With Friedreich's Ataxia

ClinicalTrials.gov Identifier: NCT02660112
Sponsor: Ralitza Gavrilova
Collaborator: Cardero Therapeutics, Inc.
Information provided by (Responsible Party): Ralitza Gavrilova, Mayo Clinic
First received: January 18, 2016

This 24-week study will test the safety and effectiveness of synthetically produced (+) Epicatechin in treating patients who have Friedreich's Ataxia, a neurological disorder.

Emerging therapies in Friedreich's ataxia

Tanya V Aranca, Tracy M Jones, Jessica D Shaw, Joseph S Staffetti, Tetsuo Ashizawa, Sheng-Han Kuo, Brent L Fogel, George R Wilmot, Susan L Perlman, Chiadi U Onyike, Sarah H Ying & Theresa A Zesiewicz; Neurodegenerative Disease Management Vol. 6, No. 1, Pages 49-65 , DOI 10.2217/nmt.15.73

This article reviews emerging therapies and discusses future perspectives, including the need for more precise measures for detecting changes in neurologic symptoms as well as a disease-modifying agent.

FARA Announces Catabasis Pharmaceuticals as the Recipient of the Kyle Bryant Translational Research Award to Evaluate CAT-4001 as a Potential Therapy for Friedreich’s Ataxia

DOWNINGTOWN, Pa. & CAMBRIDGE, Mass.--(BUSINESS WIRE), January 19, 2016
The two year award will be for the Evaluation of CAT-4001 in Frataxin-deficient mouse models and dorsal root ganglia neurons to enable its therapeutic development for Friedreich's ataxia. This work will be led by Dr. Andrew Nichols at Catabasis along with collaborators Dr. Mark Payne at Indiana University and Dr. Jordi Magrane at Weill Cornell College of Medicine who are expected to perform testing in the Friedreich’s ataxia (FA) animal models.
CAT-4001 is a small molecule that activates Nrf2 and inhibits NF-kB, two pathways that have been implicated in FA and ALS. Catabasis has shown that CAT-4001 modulates the Nrf2 and NF-kB pathways in both cellular assays and animal models.

Pediatric cardiac transplantation for Non-dilated cardiomyopathies

Linda J. Addonizio, Progress in Pediatric Cardiology, Available online 16 January 2016, ISSN 1058-9813, doi:10.1016/j.ppedcard.2016.01.006.

In data from the Pediatric Cardiomyopathy Registry, the idiopathic and familial types comprised 74% of the total cases of hypertrophic cardiomyopathy with inborn errors of metabolism comprising 9%(34% of these had Pompe disease), malformation syndromes 9% (78% had Noonan Syndrome) and neuromuscular disorders 8% (88% Friedreich ataxia). Children with inborn errors of metabolism and malformation syndromes have significantly worse outcomes than children with either idiopathic or neuromuscular disease as an etiology for their hypertrophic cardiomyopathy.

The involvement of patient organisations in rare disease research: a mixed methods study in Australia

Deirdre Pinto, Dominique Martin and Richard Chenhall. Orphanet Journal of Rare Diseases 2016, 11:2 doi:10.1186/s13023-016-0382-6

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Acquired Pulmonary Vein Isolation in a Patient with Friedreich Ataxia

Matthew M. Zipse, Ryan G. Aleong, Cardiac Electrophysiology Clinics, Available online 13 January 2016, ISSN 1877-9182, doi: 10.1016/j.ccep.2015.10.016.

This extreme example of atrial fibrosis emphasizes the need to address non-PV substrate, even if AF has only been paroxysmal, in some patients undergoing catheter ablation of AF.