Clinical trials: Charcot-Marie-Tooth Disease Type 2A
Charcot Marie Tooth Disease
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C…
- Trial name
- INC-6601 (NCT01193075)
- Where
- 24 sites in United States, Australia and 4 more
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Michael Shy
Charcot-Marie-Tooth Disease Type 2A
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
Charcot-Marie-Tooth (CMT) disease is the commonest sensitivo-motor inherited peripheral neuropathies with a prevalence of about 10-30 per 100,000. To date, more than 80 genes have been found responsible for CMT.
- Trial name
- NCT04881201
- Testing
- blood sample
- Where
- France
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- University Hospital, Angers
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth
Natural History Study for Charcot Marie Tooth Disease
The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden…
- Conditions
- Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A
- Trial name
- NCT05902351
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Hereditary Neuropathy Foundation
Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A
Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study
This cohort study (participants with CMT and control participants) has two parts (Part 1: CMT1A cohort; Part2: CMT1B, CMT2A and CMTX1 cohort) and is proposed to take place over 3 years across three sites.
- Conditions
- Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A, Charcot-Marie-Tooth Disease, Type IB, Charcot-Marie-Tooth Disease, Type X
- Trial name
- NCT03550300
- Where
- United Kingdom
- Volunteers
- 130 people
- Sponsor
- University College, London
Charcot-Marie-Tooth Disease
Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
This Phase 2a study aims to evaluate the efficacy, safety and tolerability of NMD670 vs placebo administered twice a day (BID) for 21 days in ambulatory adult patients with Charcot-Marie-Tooth disease type 1 and type 2.
- Trial name
- SYNAPSE-CMT (NCT06482437)
- Testing
- NMD670
- Where
- 19 sites in United States, Belgium and 3 more
- Volunteers
- 81 people
- Sponsor
- NMD Pharma A/S
CMT
The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
To assess the safety and tolerability of the investigational product Engensis (VM202) injected in the weakened lower limb muscles of CMT1A patients
- Trial name
- NCT05361031
- Testing
- Engensis (VM202)
- Where
- South Korea
- Volunteers
- 12 people
- Sponsor
- Helixmith Co., Ltd.
Foot Drop, Charcot-Marie-Tooth Disease Type 1A
Muscle MRI Fat Fraction Before Surgery to Predict Strength Recovery After Foot-Drop Surgery in Charcot-Marie-Tooth Disease
The purpose of this prospective observational cohort study is to determine whether the amount of fat inside the donor muscles before surgery, measured with a magnetic resonance imaging (MRI) technique called Dixon fat fraction…
- Conditions
- Foot Drop, Charcot-Marie-Tooth Disease Type 1A, Charcot-Marie-Tooth Disease Type 2A, Charcot-Marie-Tooth Disease (CMT)
- Trial name
- CMT-FF-TPT (NCT07894536)
- Testing
- Tibialis posterior tendon transfer, Individualized adjunct procedures for cavovarus deformity correction, Ankle-foot orthosis (AFO)
- Volunteers
- 100 people
- Sponsor
- Peking University Third Hospital
Charcot-Marie-Tooth Disease Type 1A
Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
A Phase 1b/2a Clinical Trial to Evaluate the Safety and Efficacy of EN001 in Patients with Charcot-Marie-Tooth Disease type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind…
- Trial name
- NCT06328712
- Testing
- EN001
- Where
- 3 sites in South Korea
- Volunteers
- 27 people
- Sponsor
- ENCell