| Not Yet Recruiting | Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T) NCT07215416 | Timothy Yu | Phase 1 / Phase 2 |
| Active Not Recruiting | A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T) NCT06673056 | IntraBio Inc | Phase 3 |
| Terminated | Open-Label Extension of EryDex Study IEDAT-04-2022 NCT06664853 | Quince Therapeutics S.p.A. | Phase 3 |
| Completed | Evaluate the Neurological Effects of EryDex on Subjects With A-T NCT06193200 | Quince Therapeutics S.p.A. | Phase 3 |
| Unknown | Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside NCT06324877 | The University of Queensland | N/A |
| Unknown | Home-based Complex Intervention for Children With Ataxia Telangiectasia NCT05692622 | University of Plymouth | N/A |
| Completed | Whole Body MRI for Cancer Surveillance in A-T NCT05252819 | University of Nottingham | — |
| Active Not Recruiting | The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics NCT05692596 | H. Lee Moffitt Cancer Center and Research Institute | — |
| Unknown | Comparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects NCT05531890 | Grace Therapeutics Inc. | Phase 1 |
| Completed | Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis NCT04513002 | The University of Queensland | Phase 2 |
| Unknown | MBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia NCT04887311 | Matrix Biomed, Inc. | Phase 2 |
| Completed | Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia NCT05471310 | Federal Research Institute of Pediatric Hematology, Oncology and Immunology | — |
| Unknown | Neurofilament Light- Chain in Ataxia Telangiectasia NCT04605523 | Johann Wolfgang Goethe University Hospital | — |
| Terminated | N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T) NCT03759678 | IntraBio Inc | Phase 2 |
| Unknown | Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia NCT04037189 | Rabin Medical Center | — |
| Active Not Recruiting | NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia NCT04870866 | University Hospital, Akershus | Phase 2 |
| Completed | Effects of Vitamin B3 in Patients With Ataxia Telangiectasia NCT03962114 | Radboud University Medical Center | Phase 2 |
| Unknown | A National Retrospective Population Based Cohort Study of the Natural History of Ataxia Telangiectasia NCT04991701 | University of Nottingham | — |
| Terminated | Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study NCT03563053 | Quince Therapeutics S.p.A. | Phase 3 |
| Unknown | Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia NCT03357978 | Johann Wolfgang Goethe University Hospital | N/A |
| Completed | Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone NCT02733679 | NHS Tayside | Phase 4 |
| Withdrawn | Pancreatic Cancer Screening of High-Risk Individuals in Arkansas NCT02309632 | University of Arkansas | N/A |
| Completed | International Ataxia Rating Scale in Younger Patients NCT01942850 | Quince Therapeutics S.p.A. | — |
| Completed | Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T NCT02285348 | Johann Wolfgang Goethe University Hospital | N/A |
| Completed | Body Composition and Hormonal Status in Ataxia Telangiectasia NCT02345200 | Johann Wolfgang Goethe University Hospital | N/A |
| Completed | Susceptibility to Infections in Ataxia Telangiectasia NCT02345135 | Johann Wolfgang Goethe University Hospital | N/A |
| Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford NCT01793168 | Sanford Health | — |
| Unknown | Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients NCT01075438 | Sheba Medical Center | — |
| Unknown | Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiect NCT01052623 | Johann Wolfgang Goethe University Hospital | Phase 4 |
| Unknown | The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally NCT00951886 | Sheba Medical Center | — |
| Completed | Baclofen Treatment of Ataxia Telangiectasia NCT00640003 | Johns Hopkins University | EARLY_Phase 1 |
| Completed | Study for Treatment of Cancer in Children With Ataxia-telangiectasia NCT00187057 | St. Jude Children's Research Hospital | N/A |