Canavan disease
Information
- Disease name
- Canavan disease
- Disease ID
- DOID:3613
- Description
- "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/2512436/, url:https\://pubmed.ncbi.nlm.nih.gov/3354621/]
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 | |
| NCT01999257 | Completed | N/A | Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. | July 2014 | August 2017 |
| NCT02851563 | Completed | A Natural History Study of Canavan Disease | May 2016 | April 2019 | |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT05317780 | No longer available | Canavan-Single Patient IND | |||
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 | |
| NCT04833907 | Recruiting | Phase 1/Phase 2 | rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease | April 1, 2021 | August 31, 2027 |
| NCT04998396 | Recruiting | Phase 1/Phase 2 | A Study of AAV9 Gene Therapy in Participants With Canavan Disease | September 8, 2021 | October 8, 2030 |
| NCT04126005 | Recruiting | Natural History Study of Patients With Canavan Disease | October 10, 2019 | April 30, 2025 | |
| NCT00724802 | Unknown status | N/A | Oral Glyceryl Triacetate (GTA) in Newborns With Canavan | March 2008 | |
| NCT00657748 | Withdrawn | Phase 2 | Lithium and Acetate for Canavan Disease | September 2009 | January 2011 |
- Disase is a (Disease Ontology)
- DOID:10579
- Cross Reference ID (Disease Ontology)
- GARD:5984
- Cross Reference ID (Disease Ontology)
- MESH:D017825
- Cross Reference ID (Disease Ontology)
- MIM:271900
- Cross Reference ID (Disease Ontology)
- NCI:C84611
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:80544005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0206307
- Exact Synonym (Disease Ontology)
- ACY2 DEFICIENCY
- Exact Synonym (Disease Ontology)
- AMINOACYLASE 2 DEFICIENCY
- Exact Synonym (Disease Ontology)
- ASP DEFICIENCY
- Exact Synonym (Disease Ontology)
- ASPA DEFICIENCY
- Exact Synonym (Disease Ontology)
- ASPARTOACYLASE DEFICIENCY
- Exact Synonym (Disease Ontology)
- CANAVAN-VAN BOGAERT-BERTRAND DISEASE
- Exact Synonym (Disease Ontology)
- Spongy degeneration of central nervous system
- OrphaNumber from OrphaNet (Orphanet)
- 141
- MeSH unique ID (MeSH (Medical Subject Headings))
- D017825