Pelizaeus-Merzbacher disease
Information
- Disease name
- Pelizaeus-Merzbacher disease
- Disease ID
- DOID:3210
- Description
- "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22." [url:https\://www.ncbi.nlm.nih.gov/books/NBK560522/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15627202, url:https\://www.ncbi.nlm.nih.gov/pubmed/2773936, url:https\://www.ncbi.nlm.nih.gov/pubmed/3476455]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
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 | |
| NCT01391637 | Completed | Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD) | June 2011 | March 2016 | |
| NCT01005004 | Completed | Phase 1 | Study of Human Central Nervous System (CNS) Stem Cells Transplantation in Pelizaeus-Merzbacher Disease (PMD) Subjects | November 2009 | December 2012 |
| NCT03333200 | Recruiting | Longitudinal Study of Neurodegenerative Disorders | January 11, 2012 | January 2035 | |
| NCT05659901 | Recruiting | A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease | October 3, 2022 | August 2025 | |
| NCT06150716 | Recruiting | Phase 1 | Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD) | April 10, 2024 | June 2028 |
| NCT02254863 | Recruiting | Phase 1 | UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | September 2014 | October 2024 |
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 |
- Disase is a (Disease Ontology)
- DOID:0060786
- Cross Reference ID (Disease Ontology)
- GARD:4265
- Cross Reference ID (Disease Ontology)
- MESH:D020371
- Cross Reference ID (Disease Ontology)
- MIM:312080
- Cross Reference ID (Disease Ontology)
- NCI:C75487
- Cross Reference ID (Disease Ontology)
- ORDO:702
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:64855000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0205711
- Exact Synonym (Disease Ontology)
- diffuse familial brain sclerosis
- Exact Synonym (Disease Ontology)
- HLD1
- Exact Synonym (Disease Ontology)
- hypomyelinating leukodystrophy 1
- Exact Synonym (Disease Ontology)
- Leukodystrophy, sudanophilic
- Exact Synonym (Disease Ontology)
- Pelizaeus Merzbacher brain sclerosis
- Exact Synonym (Disease Ontology)
- Pelizaeus-Merzbacher brain sclerosis
- Exact Synonym (Disease Ontology)
- PMD
- Exact Synonym (Disease Ontology)
- sudanophilic leukodystrophy, Paelizeus-Merzbacher type
- OrphaNumber from OrphaNet (Orphanet)
- 702
- MedGen concept unique identifier (MedGen Concept name)
- C0205711
- MedGen unique identifier (MedGen Concept name)
- 61440
- MeSH unique ID (MeSH (Medical Subject Headings))
- D020371