ataxia telangiectasia
Information
- Disease name
- ataxia telangiectasia
- Disease ID
- DOID:12704
- Description
- "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22." [url:https\://ghr.nlm.nih.gov/condition/ataxia-telangiectasia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04870866 | Active, not recruiting | Phase 2 | NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia | June 5, 2019 | June 16, 2027 |
| NCT00640003 | Completed | Early Phase 1 | Baclofen Treatment of Ataxia Telangiectasia | April 2007 | February 2011 |
| NCT05471310 | Completed | Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia | March 15, 2021 | June 30, 2022 | |
| NCT05252819 | Completed | Whole Body MRI for Cancer Surveillance in A-T | October 17, 2022 | November 30, 2023 | |
| NCT01942850 | Completed | International Ataxia Rating Scale in Younger Patients | August 2013 | May 2014 | |
| NCT02285348 | Completed | N/A | Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T | April 1, 2013 | July 31, 2017 |
| NCT02345135 | Completed | N/A | Susceptibility to Infections in Ataxia Telangiectasia | September 2012 | July 31, 2016 |
| NCT02345200 | Completed | N/A | Body Composition and Hormonal Status in Ataxia Telangiectasia | April 2013 | April 2014 |
| NCT03962114 | Completed | Phase 2 | Effects of Vitamin B3 in Patients With Ataxia Telangiectasia | March 18, 2019 | March 1, 2020 |
| NCT04513002 | Completed | Phase 2 | Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis | March 15, 2022 | July 10, 2023 |
| NCT06324877 | Not yet recruiting | N/A | Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside | May 1, 2024 | October 30, 2025 |
| NCT06193200 | Not yet recruiting | Phase 3 | To Evaluate the Effects of EryDex in Patients With A-T | June 2024 | September 2025 |
| NCT03563053 | Recruiting | Phase 3 | Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study | June 12, 2018 | December 2021 |
| NCT05692596 | Recruiting | The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics | October 6, 2022 | August 2025 | |
| NCT05692622 | Recruiting | N/A | Home-based Complex Intervention for Children With Ataxia Telangiectasia | June 1, 2023 | July 31, 2024 |
| NCT03759678 | Recruiting | Phase 2 | N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T) | January 8, 2020 | March 1, 2025 |
| NCT04605523 | Unknown status | Neurofilament Light- Chain in Ataxia Telangiectasia | February 1, 2020 | December 31, 2020 | |
| NCT04887311 | Unknown status | Phase 2 | MBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia | July 2021 | December 2022 |
| NCT04991701 | Unknown status | A National Retrospective Population Based Cohort Study of the Natural History of Ataxia Telangiectasia | September 14, 2018 | December 31, 2022 | |
| NCT01075438 | Unknown status | Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients | March 2010 | February 2011 | |
| NCT01052623 | Unknown status | Phase 4 | Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) | January 2010 | September 2012 |
| NCT05531890 | Unknown status | Phase 1 | Comparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects | September 13, 2022 | May 3, 2023 |
| NCT00951886 | Unknown status | The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally | July 2009 | July 2009 | |
| NCT04037189 | Unknown status | Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia | July 28, 2019 | December 30, 2021 | |
| NCT03357978 | Unknown status | N/A | Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia | October 1, 2016 | September 30, 2019 |
| NCT02309632 | Withdrawn | N/A | Pancreatic Cancer Screening of High-Risk Individuals in Arkansas | November 2015 | July 19, 2019 |
- Disase is a (Disease Ontology)
- DOID:0050950
- Cross Reference ID (Disease Ontology)
- GARD:5862
- Cross Reference ID (Disease Ontology)
- MESH:D001260
- Cross Reference ID (Disease Ontology)
- MIM:208900
- Cross Reference ID (Disease Ontology)
- NCI:C2887
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:68504005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0004135
- Exact Synonym (Disease Ontology)
- Boder-Sedgwick syndrome
- Exact Synonym (Disease Ontology)
- Louis Bar syndrome
- MeSH unique ID (MeSH (Medical Subject Headings))
- D001260