Clinical trials: Charcot-Marie-Tooth Disease
Parkinson Disease
Evaluation of Functional and Biochemical Effectiveness of a Strength Training Protocol in Parkinson's Disease
Parkinson's Disease (PD) is a complex neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons, which results in a range of motor symptoms such as tremor, rigidity, and bradykinesia, as well as…
- Trial name
- POWER-PD (NCT07095400)
- Testing
- strength training
- Where
- Spain
- Volunteers
- 22 people
- Sponsor
- Universidad Villanueva
Dystonia, Drug Induced Dystonia
Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia
This research involves retrospective and prospective studies for clinical validation of a DystoniaNet deep learning platform for the diagnosis of isolated dystonia.
- Conditions
- Dystonia, Drug Induced Dystonia, Parkinson Disease, Essential Tremor
- Trial name
- NCT05317390
- Testing
- DystoniaNet-based diagnosis of isolated dystonia
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts Eye and Ear Infirmary
Charcot-Marie-Tooth Disease
Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
The study will consist of 2 periods: Double-blind Treatment and Open-Label Extension(OLE) Period. -Double-blind Treatment Period - This will be randomized, double-blind, placebo-controlled part of the study which will be…
- Trial name
- PREMIER (NCT04762758)
- Testing
- (RS)-baclofen, naltrexone hydrochloride and D-sorbitol
- Where
- 50 sites in United States, Belgium and 7 more
- Volunteers
- 350 people
- Sponsor
- Pharnext S.C.A.
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
Charcot-Marie-Tooth Disease
Survey of Current Management of Orthopaedic Complications in CMT Patients
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are frequent complications in CMT patients and orthopaedic surgery is often required.
- Trial name
- NCT02001038
- Testing
- Survey
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- University College London Hospitals
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory…
- Trial name
- CMT4J (NCT03810508)
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Neurogene Inc.
Charcot-Marie-Tooth Disease, Healthy
Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Charcot-Marie-Tooth disease research and drug development by using cells from the body (such as skin or blood cells) to make…
- Trial name
- NCT06203093
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Hysterosalpingography, Anxiety
The Effect of Using Music and Natural Landscape Paintings on Pain Level, Anxiety and Analgesic Use of Women During HSG
The study was planned as a randomized controlled study in order to evaluate the use of music and natural scenery paintings in women who underwent HSG procedure, their pain level, anxiety and post-procedure analgesic use.
- Conditions
- Hysterosalpingography, Anxiety, Pain
- Trial name
- NCT05712954
- Testing
- music group, video group
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- ŞERİVAN KARAKUT
Congenital Heart Disease (CHD), Hypoxic Encephalopathy
Early Detection of Brain Injury After Congenital Heart Surgery in Infants
Infants with congenital heart disease undergoing cardiac surgery with extracorporeal circulation are at risk for perioperative hypoxic-ischaemic brain injury.
- Trial name
- NCT07424976
- Testing
- Observational study: blood analisys, EEG, MRI
- Where
- Slovenia
- Volunteers
- 30 people
- Sponsor
- University Medical Centre Ljubljana
Charcot Marie Tooth Disease
Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
- Trial name
- INC-6603 (NCT01203085)
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 1,201 people
- Sponsor
- University of Iowa
Charcot-Marie-Tooth Disease, Peripheral Neuropathy
NT-3 Levels and Function in Individuals With CMT
This study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function.
- Conditions
- Charcot-Marie-Tooth Disease, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy
- Trial name
- NCT05011006
- Testing
- NT3 blood draw
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Zarife Sahenk
Hereditary Spastic Paraplegia, Neurodegenerative Diseases
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders.
- Conditions
- Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle
- Trial name
- NCT05354622
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Boston Children's Hospital
Charcot-Marie-Tooth Disease
Follow up and Observation of Charcot Marie Tooth Disease in Families
The study is aimed to test the hypothesis that there is anticipation in CMT
- Trial name
- NCT00149045
- Where
- Israel
- Sponsor
- Hadassah Medical Organization
Ataxia Telangiectasia
Neurofilament Light- Chain in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT04605523
- Testing
- blood withdrawal
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Motor Neuron Diseases, Spinocerebellar Ataxias
Rare Disease Registry Database for Movement Disorders in Southern Anhui Province
According to the World Health Organization (WHO) definition, a rare disease is a disease affecting fewer than 6.5 people per 10,000; in China, it generally refers to diseases with a prevalence of less than 1/10,000 (i.e., with a…
- Conditions
- Motor Neuron Diseases, Spinocerebellar Ataxias, Hereditary Muscular Dystrophy, Hereditary Spastic Paraplegia
- Trial name
- W-MoSCA (NCT07838883)
- Where
- China
- Volunteers
- 180 people
- Sponsor
- First Affiliated Hospital of Wannan Medical College
Charcot-Marie-Tooth Disease
Hearing and Balance Disorders in Peripheral Neuropathy
The long term goal of this proposal is to precisely characterize the auditory and vestibular abilities of children with Charcot-Marie-Tooth (CMT) and how these abilities evolve during the progression of the disorder.
- Trial name
- NCT05827419
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Nemours Children's Clinic
Charcot Marie Tooth Disease (CMT), Pes Cavovarus
Walking Function Outcomes Following Surgical Correction With Rehabilitation Versus Physical Therapy Alone in Charcot-Marie-Tooth Disease: A Bidirectional Cohort Study
The goal of this study is to compare changes in walking ability in people with Charcot-Marie-Tooth disease (CMT) who receive two different treatment approaches for foot deformities that affect walking.
- Conditions
- Charcot Marie Tooth Disease (CMT), Pes Cavovarus, Surgery, Exercise Training
- Trial name
- CMT-WALK (NCT07432035)
- Testing
- Functional Surgery plus Rehabilitation, Physical Exercise
- Volunteers
- 200 people
- Sponsor
- Peking University Third Hospital
Hereditary Spastic Paraplegia
Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
Background: Hereditary spastic paraplegia (HSP) usually progresses slowly. Researchers want to learn more about how its symptoms change over time.
- Trial name
- NCT02859428
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized…
- Trial name
- SPLIS-HIS (NCT06669949)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- University of California, San Francisco