Clinical trials: Charcot Marie Tooth Disease
Charcot Marie Tooth Disease, Inherited Peripheral Neuropathy
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
The purpose of this research study is to create and validate two patient reported outcome (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in patients with inherited neuropathies.
- Trial name
- DSI and HMSN (NCT02194010)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 563 people
- Sponsor
- University of Iowa
ALS (Amyotrophic Lateral Sclerosis), SMA - Spinal Muscular Atrophy
Register for Medical Data, Functional Scales, and Care Outcomes in ALS, SMA, and Other Motor System Disorders
This observational registry collects existing medical and routine care data from people with amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and other motor system disorders.
- Conditions
- ALS (Amyotrophic Lateral Sclerosis), SMA - Spinal Muscular Atrophy, Spinal Cord Diseases, Central Nervous System Diseases
- Trial name
- NCT07900672
- Testing
- Standard of Care (Investigator Choice)
- Where
- Germany
- Volunteers
- 2,000 people
- Sponsor
- Ambulanzpartner Soziotechnologie APST GmbH
Appendicitis
Are Post-operative Antibiotics Indicated in Simple Appendicitis?
Hypothesis: A single dose of prophylactic antibiotics is as effective as a three dose regime in preventing post-operative complications in paediatric patients with simple appendicitis.
- Trial name
- NCT01420367
- Testing
- metronidazole and cephalzolin
- Where
- Australia
- Volunteers
- 300 people
- Sponsor
- Monash University
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Charcot-Marie-Tooth Disease, Type IA
Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A
All randomised patients with Charcot-Marie-Tooth Type 1A (CMT1A) who completed the primary study CLN-PXT3003-02, i.e. treatment with PXT3003 or placebo, are eligible to continue in the extension study CLN-PXT3003-03.
- Trial name
- PLEO-CMT-FU (NCT03023540)
- Testing
- PXT3003
- Where
- 23 sites in United States, Belgium and 5 more
- Volunteers
- 187 people
- Sponsor
- Pharnext S.C.A.
Chronic Serous Otitis Media, Simple or Unspecified
Prevalence of Mucosal Biofilm Formations in Adenoidectomy Specimens
Rationale: Bacterial biofilms are defined as an assemblage of bacterial cells enclosed in a self-produced glycocalyx matrix. Adherence on surfaces, and resistance to both antibiotic treatments and host defenses are ones of the…
- Trial name
- BOLERO (NCT01022944)
- Testing
- With chronic middle ear effusion, Without chronic middle ear effusion
- Where
- France
- Volunteers
- 113 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Multiple Sclerosis
Serum Neurofilament-light Chain and GFAP Levels in Patients From the OFSEP Cohort at Different Landmarks of Multiple Sclerosis
The investigators hypothesize that serum neurofilament-light chain (NfL) levels can provide information about the level of activity and progression of Multiple Sclerosis at different stages and landmarks of the disease.
- Trial name
- NeurofilMS (NCT03981003)
- Testing
- Blood sample
- Where
- 28 sites in France, Martinique
- Volunteers
- 1,150 people
- Sponsor
- Centre Hospitalier Universitaire de Nīmes
Peripheral Neuropathy, Neuro-Degenerative Disease
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J.
- Conditions
- Peripheral Neuropathy, Neuro-Degenerative Disease, Neuromuscular Diseases
- Trial name
- CMT4J (NCT06151600)
- Where
- 3 sites in United States
- Volunteers
- 20 people
- Sponsor
- Elpida Therapeutics SPC
Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease
Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder…
- Conditions
- Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease, Muscular Dystrophy, Spinal Muscular Atrophy With Respiratory Distress 1
- Trial name
- NCT02532244
- Testing
- sample collection
- Where
- 3 sites in United States
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of…
- Trial name
- NCT02979145
- Testing
- No intervention involved
- Where
- 4 sites in United States, Australia and 1 more
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Sydney Children's Hospitals Network
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
Phenotype, Genotype & Biomarkers in ALS and Related Disorders
The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Primary Lateral Sclerosis, Hereditary Spastic Paraplegia
- Trial name
- NCT02327845
- Where
- 15 sites in United States, Germany and 1 more
- Volunteers
- 708 people, healthy volunteers welcome
- Sponsor
- University of Miami
Charcot-Marie-Tooth Type 1A
A Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A
This is a randomized, double-blind, placebo-controlled and multicenter 3 phase trial evaluating the therapeutic effect and safety of CMT1A by PXT3003.
- Trial name
- NCT05092841
- Testing
- PXT3003
- Where
- 25 sites in China
- Volunteers
- 176 people
- Sponsor
- Tasly GeneNet Pharmaceuticals Co., Ltd
CMT, CMT (Charcot Marie Tooth Disease)
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22.
- Conditions
- CMT, CMT (Charcot Marie Tooth Disease), CMT - Charcot-Marie-Tooth Disease, CMT1A
- Trial name
- CMT-MODs (NCT07476365)
- Where
- Germany
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University Medical Center Goettingen
Peroneal Muscular Atrophy
Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
This is a cross-sectional study to clarify the gene lineage distribution of CMT genes in CMT patients in my country, draw a frequency map of CMT gene distribution, and assist in determining the genetic diagnosis strategy of CMT…
- Trial name
- NCT04967716
- Testing
- basic information, venous blood test
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Peking University Third Hospital
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 With Sorbitol Dehydrogenase Deficiency (CMT-SORD)
Confirmatory Study of Govorestat in CMT-SORD
This study is designed to assess the long-term efficacy and clinical benefit of AT-007 in patients with CMT-SORD. This randomized, double-blind study will assess the effect of govorestat compared to placebo in patients with…
- Trial name
- NCT07191912
- Testing
- Govorestat
- Where
- 13 sites in United States, Australia and 5 more
- Sponsor
- Applied Therapeutics, Inc.