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Disease

Friedreich Ataxia

Late-stage therapeutic developmentEmerging research
1
Publications
15
Clinical trials
2024
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

Emerging therapies for childhood-onset movement disorders.

Research2024-04-04Current opinion in pediatrics

Approval: Skyclarys (EMA)

Regulatory2024-02-09EMA

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Clinical Milestones9View all 9
+1 more in the activity timeline below
Activity timeline9

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies

Approval — The treatment of Friedreich’s ataxia in adults and adolescents aged 16 years and older. (2024)

Clinical trials

10 sponsors · 0 new · 1 completed in the last 12 months (net -2)

The current development programme across all trial phases.

Clinical programme
15
All trials
6
Active
5
Late-stage
6
Completed
Late-stage studies
Recruiting
Recently completed

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2024emaApprovalOmaveloxolone· The treatment of Friedreich’s ataxia in adults and adolescents aged 16 years and older. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Most influential

Emerging therapies for childhood-onset movement disorders.

Current opinion in pediatrics · 2024 · 6 cites
Recent publications

Emerging therapies for childhood-onset movement disorders.

Current opinion in pediatrics · 2024 · 6 cites
Major themes1
  • Movement Disorders1
Leading journals1
  • Current opinion in pediatrics1
Leading researchers3
  • Ebrahimi-Fakhari D1
  • Quiroz V1
  • Vogt L1
Affiliations (unnormalised)2
  • F.M. Kirby Neurobiology Center1
  • The Hospital for Sick Children1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.