New clinical trial for vatiquinone

May 29, 2026 PTC Therapeutics. 

Dear Friedreich's Ataxia Community - PTC Therapeutics We are excited to share that we will be initiating a new clinical trial for vatiquinone for the treatment of individuals living with Friedreich's ...

Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation.

Yameogo P, Gerhart BJ, Sentmanat MF, Neilson A, Cui X, Verma M, Lynch DR, Napierala JS, Napierala M. Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation. Stem Cell Res. 2026 Jun;93:103966. doi: 10.1016/j.scr.2026.103966. Epub 2026 Mar 16. PMID: 41865460.

We generated induced pluripotent stem cells from blood lymphocytes from a FRDA patient carrying the FXN c.165 + 5G > C point mutation, which interferes with canonical splicing of intron 1 of the FXN gene. These cells allow for development of therapeutic approaches that target splicing defect in FRDA.

Xavier disease (Friedreich's ataxia variant) - Symptoms, Causes, Treatment & Prevention

📅 Updated: April 2026. Xavier disease is a very rare, autosomal‑recessive neuro‑degenerative disorder that shares many clinical features with classic Friedreich’s ataxia (FA) but is caused by distinct genetic changes. The name “Xavier disease” originates from the first family in which the condition was identified (the Xavier family) and is sometimes listed in literature as FA‑variant or Friedreich‑type ataxia with atypical genotype.

Targeting competitive Fe–S regulation to treat Friedreich’s ataxia

Campos J, Ferreira J. Targeting competitive Fe–S regulation to treat Friedreich’s ataxia. Trends in Pharmacological Sciences, 2026; 0 DOI: 10.1016/j.tips.2026.04.010

Recent discoveries reveal that frataxin (FXN) and ferredoxin 2 (FDX2) competitively regulate mitochondrial iron–sulfur (Fe–S) cluster biosynthesis through their binding to the cysteine desulfurase NFS1 and the iron-sulfur cluster scaffold protein ISCU2 complex. Here, we discuss the potential of rationally designed peptide inhibitors targeting the FDX2–NFS1 interaction as a strategy to mitigate FXN deficiency and restore Fe–S cluster biosynthesis.

A phosphorylated variant of the mast/stem cell growth factor receptor KIT is upregulated in dorsal root ganglia of Friedreich ataxia

Koeppen AH, Mazurkiewicz JE, Feustel PJ, Pelech S, Sutter C, Fu Q, Lin Q. A phosphorylated variant of the mast/stem cell growth factor receptor KIT is upregulated in dorsal root ganglia of Friedreich ataxia. Histol Histopathol. 2026 May 20:25093. doi: 10.14670/HH-25-093. Epub ahead of print. PMID: 42158966. 

Friedreich ataxia (FA) causes hypoplasia of nerve cells in dorsal root ganglia (DRG). Beyond hypoplasia, however, the lesion in DRG includes disorganization and proliferation of satellite cells, formation of residual nodules, and neuronophagia. 

KIT is a proto-oncogenic protein with prominent roles in hematopoiesis including mast cell proliferation. In conclusion, proteomic analysis confirms the prominent participation of a new truncated KIT in satellite cells in the pathogenesis of FA in DRG.

Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis

Ruth Eumann, Janna Krahe, Imis Dogan, Ana Sofia Costa, Jörg B Schulz, Stella A Lischewski, Kathrin Reetz; FACROSS Study Group. Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis. Neurol Res Pract. 2026 May 19;8(1):40. doi: 10.1186/s42466-026-00499-z. PubMed ID: 42157313 

 Individuals with Friedreich ataxia display reduced resilience compared to healthy controls, which is associated with greater levels of depression and anxiety. Resilience remained stable over the disease course but appeared to decline during the COVID-19 pandemic, underlining the importance of strengthening resilience and mental well-being in this population.

Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich’s ataxia models

Pido-Lopez J, Moula S, Shaban E ... Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich’s ataxia models Cell Reports Medicine, 2026; 0 doi:10.1016/j.xcrm.2026.102803

 

Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia

Ali A, Cheema WA, Nisar F, Reyaz U, Saad M, Talha M, et al. Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia. BMJ Neurology Open. 2026;8:e001670. doi:10.1136/bmjno-2026-001670 

Sensitivity analyses confirmed robustness. Controlled trials demonstrate significant short-term improvement with omaveloxolone, while real-world data show consistent progression at rates substantially slower than natural history. These complementary findings support a disease-modifying effect of omaveloxolone in FRDA.

Swinburne researcher discovers broccoli extract could halt incurable neurological disorder

Newscorp Australia. May 19, 2026.

Associate Professor Faith Kwa leads the Drug Discovery for Chronic Diseases Laboratory at Swinburne University of Technology. Her research focuses on finding new treatments for Friedreich ataxia, a rare inherited genetic condition that currently has no cure. Friedreich ataxia affects around 260 people in Australia and can have devastating consequences.

The next step for Associate Professor Kwa’s team is to secure funding for a clinical trial. The trial would test sulforaphane in patients and determine the most effective doses for treating the condition. This critical clinical study could demonstrate that a compound derived from a common vegetable might help tackle one of the world’s rarest and most challenging diseases – showing that groundbreaking medical discoveries can begin in the most unexpected places. 

Crucially, SF can cross the blood–brain barrier, an advantage lacking in many drugs under investigation for neurodegenerative diseases like Friedreich ataxia (FRDA). FRDA is an inherited, incurable and debilitating condition caused by low levels of a protein known as frataxin. Our laboratory showed that clinically relevant doses of SF not only improve survival of spinal cord cells generated from stem cells taken from FRDA individuals but also increase frataxin levels. 

At approximately $5000 per patient per year, SF is more affordable than the only approved treatment, which costs hundreds of thousands of dollars annually. Sulforaphane exemplifies a future therapy that is sustainable, safe, and accessible to people.

New RESTORE-FA results show DT-216P2 improved balance and fatigue within 4 weeks, with tolerable safety.

NeurologyLive®. May 19, 2026. DT-216P2 Shows Dose-Dependent Frataxin Increases and Clinical Improvements After 4 Weeks of IV Dosing in Friedreich Ataxia.Design Therapeutics has reported positive 4-week biomarker and clinical data from the ongoing phase 1/2 RESTORE-FA clinical trial evaluating DT-216P2, an investigational small-molecule GeneTAC therapy designed to increase endogenous frataxin (FXN) expression by targeting the GAA trinucleotide repeat expansion in the FXN gene—the underlying genetic cause of Friedreich ataxia (FA). 

The data showed dose-dependent increases in FXN mRNA and protein alongside improvements across multiple clinical outcome measures in patients treated with weekly intravenous dosing over 4 weeks.We observed both dose-dependent increases in FXN levels and dose-dependent improvements across multiple clinical measures, including mFARS, upright stability score and patient-reported fatigue.

Based on these findings, we believe DT-216P2 has the potential to be a best-in-disease treatment for patients with FA and look forward to advancing the program toward registrational development.”