Friedreich's Ataxia Research Alliance (FARA)

Today, December 19, 2024, PTC Therapeutics announced their vatiquinone New Drug Application (NDA) submission to FDA for the treatment of children and adults living with Friedreich's ataxia (FA). The vatiquinone NDA is based on data from the placebo-controlled MOVE-FA study as well as results from two long-term studies including pediatric and adult FA patients. MOVE-FA was a global registration-directed trial of vatiquinone that enrolled 146 pediatric, adolescent, and adult FA patients, the majority of whom were under 18 years of age. The FDA has 60 days to accept the New Drug Application submission. If the submission for vatiquinone is accepted, the FDA will begin its review of the full data package. Learn more: https://lnkd.in/deP63qAe

We stand with 18-year-old rare disease advocate Jake Juip: Pediatric rare disease research needs more incentives, not less. The #PRV program expires next week – without renewal, we lose a vital tool. Act now: https://lnkd.in/gyQJv_K3 Friedreich's Ataxia Research Alliance (FARA)

Today, December 16, 2024, on an investor call and in a press release, Larimar Therapeutics shared data from their ongoing long-term open label extension study and progress across the nomlabofusp program for Friedreich’s ataxia. Click here to read the full press release or listen to the investor call: https://lnkd.in/eV84Uxpk

Jake Juip, an 18-year-old rare disease advocate living with Friedreich's ataxia, will be speaking on a panel at tomorrow's Virtual Rare Disease Caucus briefing entitled "Cures and Care for Kids: Game Changing Legislation." This briefing — hosted by Rare Disease Legislative Advocates (RDLA), in cooperation with the Rare Disease Congressional Caucus — will focus on pediatric rare disease legislation and highlight the stories of youth and teens in the rare disease community impacted by these issues.

The FDA Center for Biologics Evaluation and Research (CBER) is hosting a virtual public patient listening meeting on December 4, 2024, from 11 a.m. – 4:30 p.m. ET to better understand patient and care partner perspectives on enrollment of rare disease patients into gene therapy clinical trials in the pre-symptomatic or early symptomatic stages of their disease. FARA Co-Founder and President Ron Bartek will be advocating on behalf of the FA community at this meeting. The meeting is open to the public. You can learn more and register here: https://lnkd.in/d4v6mTUr

On the final day of the International Congress for Ataxia Research (#ICAR2024), FARA Board Secretary and communications volunteer Maureen Juip presented at a workshop on Overcoming Common Pitfalls in Patient Communications. She joined co-presenters from Tel Aviv Sourasky Medical Center, University of the Azores, University of Michigan, University of Coimbra, and National Ataxia Foundation in an engaging discussion about the challenges associated with patient communication in the ataxia field, including dissemination of results from preclinical and clinical studies and the tools available to overcome these challenges.

Over the past two days, the sessions on Emerging and Existing Therapies at the International Congress for Ataxia Research (ICAR) included several talks on approaches to treating #FriedreichAtaxia, listed below. We are grateful to all of the investigators, clinical research teams, and trial participants for their contributions to advancing research. Base editing of pathogenic GAA repeats reduces somatic repeat expansions in Friedreich’s ataxia Dr. Zaneta Matuszek (Broad Institute of MIT and Harvard and Harvard University) Effects of the novel therapeutic SBT-589 across models of Friedreich’s ataxia Dr. Laura Kropp (Stealth BioTherapeutics) Screening approach for the discovery of molecules replacing Frataxin in Fe-S cluster biosynthesis for the treatment of Friedreich’s ataxia Dr. Benoit D'Autréaux (CNRS, CEA, Université Paris-Saclay) Post hoc subgroup analysis: age of Friedreich ataxia onset in MOXIe trial of omaveloxolone Prof. David Lynch (Children's Hospital of Philadelphia) Effect of nomlabofusp administration on tissue frataxin levels, plasma lipid profiles, and gene expression in patients with Friedreich’s ataxia Dr. Rusty (Russell) Clayton (Larimar Therapeutics Inc.) Safety and Efficacy of Vatiquinone Treatment in Friedreich Ataxia Patients from MOVE-FA: a Phase 3, Double-blind, Placebo-controlled Trial Prof. David Lynch (Children's Hospital of Philadelphia) Synergy in stimulating FXN expression by co-treatment with Synthetic Genome Regulators (SynGR1) and molecules that stabilize active chromatin marks Prof. Aseem Ansari (St. Jude Children's Research Hospital) Preliminary Results from SUNRISE-FA: A Phase1/2 Study of Investigational Gene Therapy, LX2006, for Cardiomyopathy of Friedreich Ataxia Dr. Theresa Zesiewicz (University of South Florida) #ICAR2024

In a press release this week, Lexeo Therapeutics reported that they have completed enrollment of LX2006 SUNRISE-FA Phase 1/2 trial and reached alignment with FDA on key elements of registrational development plan for LX2006, including accelerated approval pathway with left-ventricular mass index (LVMI) and frataxin protein expression as co-primary registrational endpoints. The completed enrollment of LX2006 SUNRISE-FA Phase 1/2 trial included four participants treated in cohort 3 and a total of 16 participants dosed with LX2006 to date across SUNRISE-FA and Weill Cornell trials. Lexeo will share new cardiac biopsy data from one participant in cohort 2 and functional scales from three participants in the Lexeo-sponsored SUNRISE-FA trial at ICAR today. Click here to read the full press release: https://lnkd.in/eJKBfK9Q

Larimar Therapeutics Announces Three Poster Presentations at the 2024 International Congress for Ataxia Research (ICAR) on November 12–15, 2024 Larimar will present three posters during the conference, one of which will also be presented as an oral presentation. The poster presentations are as follows: ・Effect of nomlabofusp administration on tissue frataxin levels, plasma lipid profiles, and gene expression in patients with Friedreich’s ataxia ・Disease characteristics and tissue frataxin concentrations in adults with Friedreich’s ataxia participating in nomlabofusp interventional studies ・Prediction of tissue frataxin levels with long-term administration of nomlabofusp in adults with Friedreich’s ataxia using modeling and simulations Click here for the full press release: https://lnkd.in/gAABk3yX

FARA is pleased to co-host the International Congress for Ataxia Research (ICAR) with Ataxia UK, the National Ataxia Foundation, and the Ataxia Global Initiative and excited to see 600+ ataxia researchers making connections and sharing knowledge. This morning, FARA CEO, Jen Farmer opened day 3 of #ICAR2024 and shared how research is central to the organization's mission. Jen also noted the tools and resources available to researchers—many of which can be found on FARA's newly redesigned website: https://lnkd.in/gdYi-9vd