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.”

Design Therapeutics Announces Four-Week IV Data from the RESTORE-FA Trial of DT-216P2 Demonstrating Clinical Improvements and Comprehensive Biomarker Activity in Friedreich Ataxia

CARLSBAD, Calif., May 18, 2026 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today announced positive biomarker and clinical data from the ongoing Phase 1/2 RESTORE-FA trial evaluating DT-216P2 in patients with Friedreich ataxia (FA). DT-216P2 is a GeneTAC® small-molecule therapeutic candidate designed to increase frataxin (FXN) expression by targeting the GAA repeat expansion in the FXN gene, the genetic root cause of FA. 

Clinical Outcomes After four weeks of DT-216P2 treatment at the 1 mpk dose cohort, patients demonstrated mean improvements from baseline of 6.4 points in the modified Friedreich’s Ataxia Rating Scale (mFARS) and 2.7 points in the Upright Stability Score. Further, DT-216P2 demonstrated changes of greater than five points in patient-reported fatigue, as measured by the PROMIS Fatigue Scale, both at the end of four weeks of treatment and two weeks following the last dose. These data exceeded the three-point threshold generally considered to be a minimal important change in fatigue.

140 Gene therapy for Friedreich ataxia cardiomyopathy: safety and preliminary assessment of efficacy

2026 Annual Meeting of the American Society of Gene and Cell Therapy: ASGCT 2026 Annual Meeting Abstracts. Available online 8 May 2026, Version of Record 8 May 2026. 

140 Gene therapy for Friedreich ataxia cardiomyopathy: safety and preliminary assessment of efficacy; Ronald G. Crystal, Jonathan W. Weinsaft, Stephen M. Kaminsky, Anthony Caragiulo, Aarti Patel, Ralitza H. Gavrilova, Susan L. Perlman, Udhay Krishnan, Madeline Galbraith, Niamh Savage, Robert J. Kaner, Abraham Sanders, Mary Vo, Harini Sarva, Andrea Yoo, Dolan Sondhi, Bishnu P. De, Gregory Aubert, Aashir Khan, Nithya Selvan, Sandi See Tai, Narinder Bhalla, Eric Adler, Theresa Zesiewicz. 

This interim data suggests that a single intravenous administration of AAVrh.10hFXN to individuals with FA cardiomyopathy is generally safe and biologically active, increasing cardiac FXN expression, improving a key marker of cardiac structure, reducing a serum biomarker relevant to cardiomyocyte integrity and improving or stabilizing neurologic function.