metachromatic leukodystrophy
Information
- Disease name
- metachromatic leukodystrophy
- Disease ID
- DOID:10581
- Description
- "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system." [url:http\://en.wikipedia.org/wiki/Metachromatic_leukodystrophy, url:http\://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04283227 | Active, not recruiting | Phase 3 | OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD) | January 17, 2022 | March 31, 2031 |
| NCT01560182 | Active, not recruiting | Phase 1/Phase 2 | Gene Therapy for Metachromatic Leukodystrophy (MLD) | April 9, 2010 | March 15, 2025 |
| NCT01801709 | Active, not recruiting | Phase 1/Phase 2 | Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy | June 2014 | May 2029 |
| NCT04628364 | Active, not recruiting | The Natural History of Metachromatic Leukodystrophy Study (HOME Study) | October 1, 2020 | June 30, 2024 | |
| NCT02699190 | Active, not recruiting | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies | January 6, 2017 | December 2024 | |
| NCT03392987 | Active, not recruiting | Phase 2 | A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD) | January 25, 2018 | April 3, 2028 |
| NCT01586455 | Completed | Phase 1 | Human Placental-Derived Stem Cell Transplantation | April 2013 | September 2022 |
| NCT00683189 | Completed | N/A | Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy | June 2007 | May 2008 |
| NCT01303146 | Completed | Phase 2 | Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation | October 2008 | April 2010 |
| NCT00004378 | Completed | N/A | Stem Cell Transplantation (SCT) for Genetic Diseases | January 1995 | |
| 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 |
| NCT05368038 | Enrolling by invitation | ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | May 10, 2021 | July 31, 2026 | |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT03639844 | No longer available | BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study | |||
| NCT02021266 | No longer available | Single Patient Expanded Access Protocol: Metabolic Boost | |||
| NCT02084121 | No longer available | Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use) | |||
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT02171104 | Recruiting | Phase 2 | MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis | July 10, 2014 | July 14, 2028 |
| 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 | |
| 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 | |
| NCT00005900 | Unknown status | Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation | August 1999 | ||
| NCT00639132 | Withdrawn | The Natural History of Metachromatic Leukodystrophy | March 11, 2008 | February 1, 2022 |
- Disase is a (Disease Ontology)
- DOID:1927
- Cross Reference ID (Disease Ontology)
- GARD:3230
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.25
- Cross Reference ID (Disease Ontology)
- MESH:D007966
- Cross Reference ID (Disease Ontology)
- MIM:249900
- Cross Reference ID (Disease Ontology)
- MIM:250100
- Cross Reference ID (Disease Ontology)
- NCI:C61251
- Cross Reference ID (Disease Ontology)
- ORDO:512
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:3621006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0023522
- Exact Synonym (Disease Ontology)
- arylsulfatase A deficiency
- Exact Synonym (Disease Ontology)
- deficiency of cerebroside-sulfatase
- Exact Synonym (Disease Ontology)
- MLD
- Exact Synonym (Disease Ontology)
- Scholz cerebral sclerosis
- Exact Synonym (Disease Ontology)
- sulfatide lipoidosis
- OrphaNumber from OrphaNet (Orphanet)
- 512