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Ataxia telangiectasia
Ataxia telangiectasia is a rare neurologic disorder that can involve the central and/or peripheral nervous system.
Prevalence
1 / 100 000
1– 40,000
US Estimated
1– 100,000
Europe Estimated
Age of Onset
Childhood
ICD-10
G11.3
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Ataxia Telangiectasia (AT), also known as Louis-Bar Syndrome, is a rare genetic disorder that affects multiple systems in the body, including the nervous and immune systems.
5 Facts you should know
FACT
Ataxia Telangiectasia (A-T) is a rare genetic disorder characterized by progressive neurological decline, immune system deficiencies, and a heightened risk of developing certain cancers
FACT
Diagnosis typically involves comprehensive clinical evaluations and genetic testing to pinpoint mutations in the ATM gene, while neurological symptoms serve as crucial indicators for identification
FACT
Treatment primarily revolves around symptom management and complication mitigation through interventions like physical therapy, immunoglobulin supplementation, and specialized care tailored to individual needs
FACT
The root cause of Ataxia Telangiectasia traces back to mutations within the ATM gene, often surfacing in childhood. This condition profoundly affects coordination, compromises immune functionality, and often leads to premature aging
FACT
Prognosis for individuals with Ataxia Telangiectasia varies; though advancements have improved life expectancy, progressive disability remains a challenge, alongside an escalated susceptibility to specific cancers
Interest over time
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Common signs & symptoms
Progressive cerebellar ataxia, often first recognized in early childhood.
Oculomotor abnormalities
Telangiectasias, classically conjunctival and sun-exposed skin areas
Immunodeficiency with recurrent sinopulmonary infections; chronic lung disease/bronchiectasis risk.
Cancer predisposition, plus radiosensitivity.
Abdominal pain or discomfort
Current treatments
No curative therapy; management is multidisciplinary and anticipatory. 
Infection prevention & pulmonary care
Prompt treatment of infections; airway clearance strategies when indicated.
Immunoglobulin replacement in patients with significant antibody deficiency or recurrent/severe infections (specialist-directed).
Neurologic/functional care
PT/OT, fall prevention, mobility aids, dysarthria/dysphagia support.
Cancer risk management
Surveillance approaches are evolving; expert consensus highlights the need for structured surveillance and identifies areas of uncertainty.
Oncology treatment often requires modified regimens due to radiosensitivity and toxicity concerns.
Use diagnostic radiation only when it will change management; avoid when feasible.
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics | The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives. | Active | Other: Data collection | More Info | |
| A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T) | A pivotal, randomized, double-blind, placebo-controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Ataxia-Telangiectasia (A-T). The objective of this study is to evaluate the safety, tolerability and efficacy of N-acetyl-L-leucine (IB1001) compared to... | Phase 3 | Active | Drug: N-Acetyl-L-Leucine Other: Placebo | More Info |
| Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T) | This project aims to evaluate the safety and efficacy of precision genetic therapy for patients with Ataxia-telangiectasia (A-T), a rare neurodegenerative disease caused by mutations in the ATM gene. The investigators will conduct a clinical trial to study the safety and efficacy of intrathecal admi... | Phase 1, Phase 2 | Not yet recruiting | Drug: Antisense oligonucleotide targeting the ATM gene | More Info |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help a... | Recruiting | More Info |
References:
Medscape. Ataxia-telangiectasia: clinical presentation, evaluation, and management. Medscape Reference. https://emedicine.medscape.com/article/958831-overview. Neves R, Aman P, Loizou JI, et al. Cancer surveillance recommendations for individuals with ataxia-telangiectasia: an international expert consensus. Clin Cancer Res. 2023;29(3):456–464. doi:10.1158/1078-0432.CCR-22-2145. European Society for Immunodeficiencies (ESID). Ataxia-telangiectasia: radiosensitivity and treatment considerations. ESID Clinical Guidelines. https://esid.org. Pastorczak A, Szczepański T, Sedek L, et al. Lymphoid malignancies and lymphoproliferative disorders in ataxia-telangiectasia and Nijmegen breakage syndrome: consensus recommendations. Front Immunol. 2021;12:720390. doi:10.3389/fimmu.2021.720390. American Association for Cancer Research (AACR). Cancer screening and surveillance in inherited DNA repair disorders. AACR Cancer Dispos. https://www.aacr.org.