Ataxia Telangiectasia
Recent clinical, regulatory, research and industry developments relating to this disease.
ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.
Ataxia telangiectasia: a review.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 1 clinical trial expected to report results, the earliest in Q4 2032.
Clinical MilestonesViewHide
- 2026-05-28A Phase 1/2 Study of Antisense Oligonucleotide Therapy for Treatment of Ataxia-TelangiectasiaResults expected Q4 2032
- 2026-01-30An Open-Label Extension Study of EryDex in Patients With Ataxia Telangiectasia Following Participation in Study IEDAT-04-2022 (NEAT)Terminated
- 2025-10-27Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Multinational, Multicenter, Open-label, Rater-blinded Phase II StudyTerminated
- 2026-05-28ClinicalA Phase 1/2 Study of Antisense Oligonucleotide Therapy for Treatment of Ataxia-TelangiectasiaResults expected Q4 2032
- 2026-04-30ClinicalA Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Neurological Effects of EryDex on Subjects With Ataxia Telangiectasia (NEAT)Results posted
- 2026-01-30ClinicalAn Open-Label Extension Study of EryDex in Patients With Ataxia Telangiectasia Following Participation in Study IEDAT-04-2022 (NEAT)Terminated
- 2025-10-27ClinicalEffects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Multinational, Multicenter, Open-label, Rater-blinded Phase II StudyTerminated
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes1
- Ataxia Telangiectasia1
Leading journals2
- Cell reports1
- Orphanet journal of rare diseases1
Leading researchers8
- Buckley PG1
- Chittenden TW1
- Crawford TO1
- Demirbas D1
- Jeffries AM1
- Kim J1
- Lai J1
- Lederman HM1
Affiliations (unnormalised)4
- Boston Children's Hospital1
- Genuity Genomics Centre1
- The Ataxia Telangiectasia Clinical Center1
- University of Massachusetts Medical School1
Reference
Authoritative identity, definition & identifiers.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
- 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.