ICAR 2022 –
Deadline for abstract submission is June 13th!
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Abstract acceptance will be announced by August 15th, 2022.
You can view the preliminary program and invited speakers here.
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Erin O'Neil, from Wakefield, MA, was featured on FARA's Meet the Community blog. She shared how important FARA and the Ambassador program is to her and the entire FA community.
"Because I was diagnosed prior to FARA and did not have role models and people to help guide me through life with FA, I was so passionate to create and build the Ambassador program from its beginning."
Read the full interview with Erin here.
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FA Research Flash Talk Series |
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During the month of May, FARA hosted the third annual FA Research Flash Talks series - featuring Young Investigators from FARA funded laboratories around the world. Thank you to all the speakers, moderators, and attendees for celebrating FA awareness month!
Awards and congratulations to:
- Nicole Sayles - Weill Cornell Medicine
- Elisabetta Indelicato - Medical University of Innsbruck, Austria
- Anika Varma - University of Rochester
- Saqlain Suleman - Brunel University London
You can view this year and previous year Flash Talks here.
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Reata Pharmaceuticals Announces FDA Filing Acceptance and Priority Review Designation for the NDA for Omaveloxolone for the Treatment of Patients with Friedreich’s Ataxia
The NDA is supported by the efficacy and safety data from the MOXIe Part 2 trial and additional supporting data from the MOXIe Part 1 and MOXIe Extension trials. The FDA indicated that at this time it has not identified any potential review issues. The FDA grants Priority Review to medicines that may offer significant improvements in the treatment, diagnosis, or prevention of a serious condition. The FDA indicated it is currently planning to hold an advisory committee meeting to discuss the application.
Click here to read the full press release.
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Recent FARA funded FA Publications
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Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle.
Vásquez-Trincado C, Dunn J, Han JI, Hymms B, Tamaroff J, Patel M, Nguyen S, Dedio A, Wade K, Enigwe C, Nichtova Z, Lynch DR, Csordas G, McCormack SE, Seifert EL.
Here, the authors show that lean mass is lower, whereas body mass index is unaltered, in separate cohorts of adults and children with FRDA. In adults, lower lean mass correlated with disease severity. In a transgenic mouse model of FXN depletion, when residual FXN was approximately 5% of control levels, muscle mass was lower along with absolute grip strength. Global protein translation was lower, accompanied by integrated stress response (ISR) activation. Also in mice, aerobic exercise training, initiated prior to the muscle mass difference, improved running capacity, yet, muscle mass and the ISR remained as in untrained mice.
Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood.
Wang Q, Laboureur L, Weng L, Eskenazi NM, Hauser LA, Mesaros C, Lynch DR, Blair IA.
This study reports a quantitative assay for frataxin proteoforms in whole blood from healthy controls and FRDA patients. The assay is based on stable isotope dilution coupled with immunoprecipitation (IP) and two-dimensional-nano-ultrahigh performance liquid chromatography/parallel reaction monitoring/high resolution mass spectrometry (2D-nano-UHPLC-PRM/HRMS). The lower limit of quantification was 0.5 ng/mL for each proteoform and the assays had 100% sensitivity and specificity for discriminating between healthy controls and FRDA cases. The assay will make it possible to rigorously monitor the natural history of the disease and explore the potential role of isoform E in etiology of the disease.
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Inherited Ataxias in Children.
Subramony SH, Burns M, Kugelmann EL, Zingariello CD.
The purpose of this review is to describe the current diagnostic approach to inherited ataxias during childhood. This review summarizes those disorders in which a specific therapy may be indicated.
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K.
This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders.
Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR imaging study.
Krahe J, Dogan I, Didszun C, Mirzazade S, Haeger A, Joni Shah N, Giordano IA, Klockgether T, Madelin G, Schulz JB, Romanzetti S, Reetz K.
The aim of this study is to investigate possible metabolic changes in Friedreich ataxia using in vivo sodium MRI that may precede macroanatomical alterations, and to explore potential associations with clinical parameters of disease progression.
A comprehensive Triple Repeat Primed PCR (TR-PCR) and a Long-Range PCR (LR-PCR) agarose-based assay for improved genotyping of GAA repeats in Friedreich's Ataxia.
Jama M, Margraf RL, Yu P, Reading NS, Bayrak-Toydemir P.
This paper describes a two-tier genotyping assay with an improved triple-repeat primed PCR for alleles < 200 GAA repeats (± 1-5 repeats), and an agarose gel-based, long-range PCR assay to genotype expanded alleles > 200 GAA repeats (± 50 repeats).
Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases.
Barbé L, Finkbeiner S.
This review discusses the common epigenetic patterns shared across repeat diseases, how the genetics and epigenetics interact, and how this could be involved in disease manifestation. It also discusses the currently available stem cell and mouse models, which frequently do not recapitulate epigenetic patterns observed in human disease, and propose alternative strategies to study the role of epigenetics in repeat diseases.
Neurological Recovery with Interferon-gamma Treatment in Friedreich's Ataxia.
Tekin HG, Levent E.
This study describes the case of a 9-year-old girl diagnosed with FA and treated with interferon-gamma 3 times a week for 9 months.
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia.
Rodden LN, Rummey C, Dong YN, Lynch DR.
This study assessed whether a ceiling effect occurs on the clinical consequences of GAA-TR length in FRDA, as would be predicted by variegated silencing. Patients with GAA-TRs of >700 triplets represent a subgroup in which the severity of clinical manifestations based on GAA-TR length have reached maximal levels and therefore display limited clinical variability in disease progression.
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FARA Newly Awarded Research Grants
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Award for Innovative Mindset
Manuela Corti, PhD and Tanja Taivassalo, PhD
University of Florida
Functional electrical stimulation (FES) cycling training to improve motor and cardiac functions in patients with Friedreich’s Ataxia: a feasibility and efficacy study
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The FARA Forum is a monthly webinar featuring investigators who have been awarded FARA grants. The webinar is open to FARA grant awardees, and it is held on the second Tuesday of every month. Here are the next dates:
July 12, 2022 - 12:00PM ET
Giovanni Manfredi, Cornell University
August 9, 2022 - 12:00PM ET
Stephanie Cherqui, University of California San Diego
September 13, 2022 – 12:00PM ET
Erin Seifert, Thomas Jefferson University
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FARA research grants: General Research Grants – next LOI deadline is August 15, 2022. See FARA grant program priorities here
CIRM - Various grant opportunities for stem cell-related projects in
California.
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Meetings of Interest to the FA Community |
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The Ataxia Global Initiative (AGI) is holding a webinar series called Young Investigator initiative (YII). The next webinar “Preclinical trials in mouse models of ataxia” will be held on Tuesday June 21, 2022 at 4pm CEST.
You can register and find more information on upcoming webinars here
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Director of Clinical Research, Friedreich's Ataxia Research Alliance (FARA)
Position Summary:
Lead a global effort to establish the Friedreich Ataxia Global Clinical Consortium (FA-GCC), ensuring that the necessary operations and infrastructure are established to support the scientific and strategic goals of the consortium. The FA-GCC will harmonize two existing natural history studies, enable innovative clinical trials, provide a platform for broad stakeholder collaboration, and empower the FA academic and clinical community. Responsible for all operations of the FA-GCC including protocol development, database management, legal and regulatory compliance across domestic and international sites, site training and monitoring, budget and financial operations and communications with all stakeholders (researchers, clinicians, coordinators, international research advocacy partners, biopharma, funding partners, patient families, and government partners).
The successful candidate will have clinical research and operations management experience, strong leadership and interpersonal skills, understanding of research consortia and professional experience working with academia and pharma/ biotech.
To apply: Submit a cover letter and resume to info@curefa.org. Please include salary requirements.
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