Join us to celebrate FA Awareness Month by attending the FARA Flash Talks webinars every Thursday in May. Each session will consist of four Flash Talks from postdocs and graduate students, moderated by FA community members. The talks will be limited to five minutes and a single PowerPoint slide, making them suitable for a lay audience. A brief Q&A will follow each talk.
You can find the full schedule and links to register here.
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The FARA Fellow Program recognizes young investigators who will commit their early career to FA research and provides opportunities to expand their network and enhance their profile.
The award consists of $10,000 USD and financial support to attend one scientific conference per year and the FARA & CHOP FA Symposium in Philadelphia. As FARA Fellows, trainees will be invited to participate in roundtable discussions with other Fellows, present at the FARA Forum and FARA Flash Talks, and contribute their FA knowledge and research results to the FA CollaMap. For additional information, please contact grants@curefa.org.
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Larimar Therapeutics Reports Preliminary Top-line Data from Phase 2 Trial’s 25 mg Cohort Showing Increases in Frataxin Levels in Patients with Friedreich’s Ataxia and First Quarter 2023 Financial Results
• Safety data indicate that repeated subcutaneous injections of 25 mg CTI-1601 were generally well tolerated when administered daily for 14 days and then every-other-day thereafter until day 28
• Daily subcutaneous injections of 25 mg CTI-1601 for 14 days led to increases in frataxin levels from baseline compared to placebo in all evaluated tissues (skin and buccal cells)
• Median placebo-adjusted increases from baseline of 3.5 pg/µg and 0.9 pg/µg in frataxin levels observed in skin and buccal cells, respectively, with 14 days of daily dosing of CTI-1601
• Larimar has submitted data to FDA and will meet with the Agency to discuss next steps; update expected in Q3 2023
Click here for the full press release.
Reata Pharmaceuticals First Quarter 2023 Financial Results and Update on Development Programs
Updates on omaveloxolone included:
- Reata has completed the final stages of SKYCLARYS (omav) drug product manufacturing and packaging They have submitted supplemental information to the FDA on the previously reported manufacturing impurity which FDA is currently reviewing. Provided there are no major review issues, Reata believes SKYCLARYS will be available through the specialty pharmacy no later than mid-August 2023.
- The Marketing Authorization Application for omaveloxolone in Europe is under review. Reata anticipates being able to respond to the Day 120 List of Questions from EMA by Q3.
- Reata is evaluating strategies to support global label expansion to pediatric patients and is working with EMA and FDA to that end.
To read the press release or to listen to the full investor call from Reata, click here.
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Recent FARA Funded FA Publications
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Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's Ataxia
Indelicato E, Kirchmair A, Amprosi M, Steixner S, Nachbauer W, Eigentler A, Wahl N, Apostolova G, Krogsdam A, Schneider R, Wanschitz J, Trajanoski Z, Boesch S.
Herein, the authors aimed at dissecting the pathophysiology of FRDA by means of RNA-sequencing in skeletal muscle biopsies collected from seven FRDA patients before and after treatment with recombinant human Erythropoietin (rhuEPO) within a clinical trial. FRDA transcriptomes unveiled two main signatures: 1) a global downregulation of the mitochondrial transcriptome as well as of ribosome/translational machinery and 2) an upregulation of genes related to transcription and chromatin regulation, especially of repressor terms.
Auditory neuropathy in mice and humans with Friedreich ataxia.
Rance G, Carew P, Winata L, Sale P, Delatycki M, Sly D.
In this study, the authors characterize hearing deficits in a mouse model of Friedreich ataxia and compare these to a clinical population. The YG8Pook/J mice showed degenerative changes in auditory structure and function. In human participants, auditory steady-state response amplitudes were correlated with both Consonant-Nucleus-Consonant word scores and Friedreich Ataxia Rating Scale score. These scalp-recorded potentials may serve as an objective biomarker for disease progress in affected individuals.
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Sequencing through hyperexpanded Friedreich's ataxia-GAA repeats by nanopore technology: implications in genotype-phenotype correlation
Uppili B, Sharma P, Ahmad I, Sahni S, Asokachandran V, Nagaraja AB, Srivastava AK, Faruq M.
In this study the authors utilized long-range targeted amplification of FXN-GAA repeats using Oxford Nanopore Technologies MinION platform for accurate estimation of repeat length. The proposed method is clinically scalable and deployable for day-to-day diagnostics.
Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation
Malaquias MJ, Oliveira J, Santos M, Brandão AF, Sardoeira A, Sequeiros J, Barros J, Damásio J.
Here the authors report pseudodominance in FA. A family with two consecutive generations affected by FA is described. Clinicians should be aware of the possibility of pseudodominance when facing an apparent autosomal dominant pedigree, particularly in disorders with high frequency of carriers and variable expression.
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The FARA Forum is a monthly webinar that features investigators who have been awarded FARA grants. These webinars are exclusively available to FARA grant awardees and are held on the second Tuesday of every month. Please refer to the schedule below for the upcoming webinar dates:
July 11, 2023 | 12:00 pm ET
Helene Puccio - Institute NeuroMyoGène, Lyon, France &
Marek Napierala - UT Southwestern
August 8, 2023 | 12:00 pm ET
Daniele Lettieri-Barbato - University of Rome Tor Vergata
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FARA Newly Awarded Research Grants |
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Award for Innovative Mindset
Measurement of frataxin mRNA in NHP and human biofluids
Eric Wang and Sub Subramony, University of Florida
Uncovering the function of a conserved site in eukaryotic frataxins
Jordi Tamarit, Universitat de Lleida, Spain
General Research Grant
Identification of concordant electrophysiological biomarkers in Friedreich Ataxia
Donald Joseph, Children’s Hospital of Philadelphia
Trojan nanobodies to increase frataxin function
Javier Santos, University of Buenos Aires, Argentina
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Meetings of Interest to the FA Community |
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General Research Grants, Postdoctoral Fellowships and Research Awards – LOI deadline is August 15, 2023.
See FARA grant program priorities here.
The French Association for Friedreich's Ataxia (AFAF) and the Foundation for Rare Diseases (FMR) are partnering to support research on Friedreich's ataxia. The deadline for submission is June 22, 2023.
FDA launched the FDA Rare Neurodegenerative Disease Grant Program. The agency awards grants and contracts to public and private entities to cover costs of research and development of interventions intended to prevent, diagnose, mitigate, treat or cure ALS and other rare neurodegenerative diseases in adults and children.
Grant opportunities from CIRM can be found here.
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Postdoctoral positions at UT Southwestern – Napierala Lab
Two postdoctoral fellow positions are immediately available to work on oligonucleotide-mediated therapeutic approaches for Friedreich’s ataxia (FRDA), one of the most common inherited ataxias, caused by expansion of trinucleotide repeats. The postdoctoral fellow will also be involved in developing approaches for gene replacement therapy for FRDA. Both projects involve work with state-of-the-art induced pluripotent stem cell (iPSC)-based models and/or mouse models of the disease. We are seeking highly motivated scientists to join our multi-disciplinary group at the University of Texas Southwestern Medical Center in Dallas, TX to advance development of cure for FRDA.
The position requires experience utilizing mammalian cell culture models, general molecular and cellular biology techniques and/or experience working with transgenic mouse models. Expertise in culture of iPSCs or in applications involving antisense oligonucleotides, genome editing, viral expression vectors, transcriptional regulation and post-translational histone modifications is desirable but not required.
We offer competitive pay starting at $55,000 per year plus insurance and a comprehensive benefits package. Successful candidates will be eligible for an additional award of $10,000 per year for up to three years. In addition, postdoctoral fellows will be able to participate in two conferences per year (expenses paid).
The Department of Neurology at UT Southwestern Medical Center is a nationally recognized leader in the comprehensive management of neurological conditions. Our vibrant Department comprises more than 75 full-time faculty in 12 subspecialty sections, supporting a spectrum of complex and innovative approaches to neurological care, a broad range of novel research programs, and abundant educational opportunities for trainees. Through collaborations with the Peter O’Donnell Jr. Brain Institute, the Department of Neurology is building state-of-the art facilities for drug and device testing and bringing current and new faculty together for collaborative research on brain disease therapy.
Dallas is an extremely vibrant, cosmopolitan metropolis of more than 10 million people and is home to world class restaurants, art and professional sports.
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