Charcot-Marie-Tooth disease
Information
- Disease name
- Charcot-Marie-Tooth disease
- Disease ID
- DOID:10595
- Description
- "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm." [url:https\://www.genome.gov/11009201, url:https\://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| PMP22 | 17 | 15,229,773 | 15,263,190 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04762758 | Active, not recruiting | Phase 3 | Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients | March 30, 2021 | April 19, 2024 |
| NCT00271635 | Completed | Phase 2 | Ascorbic Acid Treatment in CMT1A Trial (AATIC) | January 2006 | July 2007 |
| NCT01401257 | Completed | Phase 2 | Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A | December 2010 | December 2012 |
| NCT02001038 | Completed | Survey of Current Management of Orthopaedic Complications in CMT Patients | February 2013 | November 2014 | |
| NCT02011204 | Completed | Study of Electrical Impedance Myography (EIM) in ALS | November 2013 | March 2016 | |
| NCT00149045 | Completed | Follow up and Observation of Charcot Marie Tooth Disease in Families | November 2001 | August 2005 | |
| NCT02788734 | Completed | Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies | June 2016 | November 19, 2016 | |
| NCT02967679 | Completed | Phase 2 | SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study | December 5, 2016 | March 18, 2019 |
| NCT03715283 | Completed | N/A | Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care | January 15, 2019 | September 1, 2019 |
| NCT04786522 | Completed | Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease | November 2, 2019 | December 30, 2020 | |
| NCT04980807 | Completed | Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls | April 7, 2021 | March 3, 2022 | |
| NCT05011006 | Recruiting | NT-3 Levels and Function in Individuals With CMT | November 13, 2019 | June 2024 | |
| NCT05902351 | Recruiting | Natural History Study for Charcot Marie Tooth Disease | November 1, 2013 | December 31, 2029 | |
| NCT02532244 | Recruiting | Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases | June 2015 | December 2025 | |
| NCT06203093 | Recruiting | Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for iPSC Generation and Biobanking | September 22, 2022 | September 22, 2025 | |
| NCT03782883 | Recruiting | The Impact of Charcot-Marie-Tooth Disease in the Real World | October 9, 2018 | December 31, 2023 | |
| NCT04010188 | Recruiting | A Registered Cohort Study on Charcot-Marie-Tooth Disease | July 1, 2019 | December 31, 2049 | |
| NCT04283175 | Recruiting | Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients | April 1, 2021 | April 1, 2024 | |
| NCT03254199 | Terminated | Phase 2 | A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps. | October 16, 2017 | July 27, 2018 |
| NCT05827419 | Terminated | Hearing and Balance Disorders in Peripheral Neuropathy | June 1, 2018 | March 10, 2023 | |
| NCT03810508 | Terminated | A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) | July 18, 2019 | February 15, 2022 | |
| NCT03943290 | Terminated | Phase 2 | Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX) | May 10, 2019 | March 11, 2020 |
| NCT03124459 | Terminated | Phase 2 | Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease | July 31, 2017 | March 11, 2020 |
| NCT02979145 | Unknown status | Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611) | October 2016 | ||
| NCT01289704 | Unknown status | Phase 2/Phase 3 | Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) | February 2011 | January 2012 |
- Disase is a (Disease Ontology)
- DOID:440
- Cross Reference ID (Disease Ontology)
- GARD:6034
- Cross Reference ID (Disease Ontology)
- ICD10CM:G60.0
- Cross Reference ID (Disease Ontology)
- ICD9CM:356.1
- Cross Reference ID (Disease Ontology)
- MESH:D002607
- Cross Reference ID (Disease Ontology)
- MIM:PS118220
- Cross Reference ID (Disease Ontology)
- NCI:C75467
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:193158000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0007959
- Exact Synonym (Disease Ontology)
- CMT - Charcot-Marie-Tooth disease
- OMIM Phenotype Series Number (OMIM)
- PS118220
- MeSH unique ID (MeSH (Medical Subject Headings))
- D002607