adrenoleukodystrophy
Information
- Disease name
- adrenoleukodystrophy
- Disease ID
- DOID:10588
- Description
- "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death." [url:http\://en.wikipedia.org/wiki/Adrenoleukodystrophy, url:https\://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ABCD1 | X | 153,724,856 | 153,744,755 | 16 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02699190 | Active, not recruiting | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies | January 6, 2017 | December 2024 | |
| NCT03231878 | Active, not recruiting | Phase 2/Phase 3 | A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. | December 8, 2017 | June 2025 |
| NCT03513328 | Completed | Phase 1/Phase 2 | Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation | June 15, 2018 | February 19, 2023 |
| NCT00007020 | Completed | Phase 3 | Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid | January 1992 | December 2009 |
| NCT00176904 | Completed | Phase 2/Phase 3 | Stem Cell Transplant for Inborn Errors of Metabolism | January 1995 | June 2010 |
| NCT00383448 | Completed | Phase 2 | HSCT for High Risk Inherited Inborn Errors | September 2006 | September 2014 |
| NCT02961803 | Completed | Phase 2/Phase 3 | MD1003-AMN MD1003 in Adrenomyeloneuropathy | October 2014 | June 2017 |
| NCT01586455 | Completed | Phase 1 | Human Placental-Derived Stem Cell Transplantation | April 2013 | September 2022 |
| NCT00004450 | Completed | N/A | Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy | August 1998 | November 2000 |
| NCT04303416 | Completed | Phase 2/Phase 3 | Plasma Exchange With Albumin in AMN Patients | March 9, 2020 | September 13, 2021 |
| NCT02952482 | Completed | Newborn Screening for Adrenoleukodystrophy | November 2016 | August 2017 | |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT02254863 | Recruiting | Phase 1 | UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | September 2014 | October 2024 |
| NCT02559830 | Recruiting | Phase 1/Phase 2 | Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy | January 2015 | October 2025 |
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 | |
| NCT03789721 | Recruiting | Adrenoleukodystrophy National Registry Study | May 1, 2019 | February 2030 | |
| NCT04090268 | Recruiting | N/A | Precision Exercise in Children With Malignant Hemopathies | April 3, 2017 | April 3, 2026 |
| NCT04925349 | Recruiting | Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia | August 30, 2021 | February 2025 | |
| NCT05003648 | Recruiting | Phase 4 | Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy | April 1, 2023 | November 1, 2025 |
| NCT00004442 | Terminated | N/A | Study of Bile Acids in Patients With Peroxisomal Disorders | April 1999 | |
| NCT00545597 | Terminated | Phase 3 | A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy | March 2005 | October 2007 |
| NCT00004418 | Terminated | Phase 2 | Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy | April 1998 | December 2014 |
| NCT00278044 | Unknown status | N/A | Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children | January 2006 | July 2007 |
| NCT00005900 | Unknown status | Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation | August 1999 | ||
| NCT02948062 | Withdrawn | Early Diagnosis Of Childhood Cerebral ALD | November 2018 | July 2023 |
- Disase is a (Disease Ontology)
- DOID:10579
- Cross Reference ID (Disease Ontology)
- ICD10CM:E71.52
- Cross Reference ID (Disease Ontology)
- MESH:D000326
- Cross Reference ID (Disease Ontology)
- MIM:300100
- Cross Reference ID (Disease Ontology)
- NCI:C61252
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:65389002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0162309
- Exact Synonym (Disease Ontology)
- ALD
- Exact Synonym (Disease Ontology)
- Bronze Schilder disease
- Exact Synonym (Disease Ontology)
- diffuse sclerosis
- Exact Synonym (Disease Ontology)
- Encephalitis periaxialis concentrica
- Exact Synonym (Disease Ontology)
- Encephalitis periaxialis, Schilder's
- Exact Synonym (Disease Ontology)
- Siemerling-Creutzfeldt Disease
- Exact Synonym (Disease Ontology)
- sudanophilic cerebral sclerosis
- Exact Synonym (Disease Ontology)
- X-linked adrenoleukodystrophy
- MedGen concept unique identifier (MedGen Concept name)
- C0162309
- MedGen unique identifier (MedGen Concept name)
- 57667
- MeSH unique ID (MeSH (Medical Subject Headings))
- D000326