Clinical trials: Charcot-Marie-Tooth Disease
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
CIDP (Chronic Inflammatory Demyelinating Polyradiculoneuropathy), CMT (Charcot Marie Tooth Disease)
Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
The main purpose of this study is to assess the clinical feasibility of diffusion tensor imaging (DTI) for the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).
- Trial name
- PIDC (NCT03460951)
- Testing
- cervical MRI
- Where
- France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University Hospital, Clermont-Ferrand
Alzheimer Disease, Cognitive Dysfunction, Cognitive Disorder
DIV-AD BARCELONA: Alzheimer's Blood-Based Biomakers for a Diverse Community
The DIV-AD study aims to find out whether levels of Alzheimer's disease markers in blood differ among the main ethnical groups living in central Barcelona.
- Conditions
- Alzheimer Disease, Cognitive Dysfunction, Cognitive Disorder, Dementia, Neurodegenerative Disease
- Trial name
- DIV-AD (NCT07521722)
- Where
- Spain
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Barcelonabeta Brain Research Center, Pasqual Maragall Foundation
Carpal Tunnel Syndrome (CTS), Median Nerve Entrapment
Turkish Adaptation of the CTS-6 Evaluation Tool: A Validation and Reliability Study
The purpose of this study is to develop the Turkish version of the CTS-6 Evaluation Tool and to comprehensively assess its validity and reliability in the Turkish population.
- Conditions
- Carpal Tunnel Syndrome (CTS), Median Nerve Entrapment, Peripheral Nerve Disease, Peripheral Nerve Disorder
- Trial name
- NCT07420049
- Testing
- CTS-6 Evaluation Tool
- Where
- Turkey (Türkiye)
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Istanbul University
Amyotrophic Lateral Sclerosis (ALS)
Developing New Ways to Detect Respiratory Impairment Early in ALS
The goal of this observational study is to develop new ways to detect early changes associated with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.
- Trial name
- NCT07844590
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
Charcot Marie Tooth Disease
Development and Validation of a Disability Severity Index for CMT
It is necessary for outcome measures to accurately reflect the state of health of a person in order for clinical trials to show benefit.
- Trial name
- 6604 (NCT01455623)
- Where
- United States
- Volunteers
- 291 people, healthy volunteers welcome
- Sponsor
- University of Iowa
Stroke, Stroke (CVA) or TIA
The Imperial Comprehensive Cognitive Assessment in Cerebrovascular Disease (IC3)
Stroke is a major cause of death and disability worldwide, frequently resulting in persistent cognitive deficits among survivors.
- Conditions
- Stroke, Stroke (CVA) or TIA, Dementia, Vascular, Cerebrovascular Disorders
- Trial name
- IC3 (NCT05885295)
- Testing
- MRI brain, Blood tests, cognitive assessments
- Where
- United Kingdom
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Primary Lateral Sclerosis, Hereditary Spastic Paraplegia
Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
This study will use a magnetic resonance imaging technique called nuclear magnetic spectroscopy (H-MRS) to define the pathology and progression of primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral…
- Conditions
- Primary Lateral Sclerosis, Hereditary Spastic Paraplegia, Amyotrophic Lateral Sclerosis
- Trial name
- NCT00023075
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Charcot-Marie-Tooth Disease, Type Ia (Disorder), HMSN
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
- Trial name
- INC-6602 (NCT01193088)
- Where
- 24 sites in United States, Australia and 4 more
- Volunteers
- 1,050 people, healthy volunteers welcome
- Sponsor
- University of Iowa
Neurologic Diseases, Hemiparesis
NuroSleeve Powered Brace & Stimulation System to Restore Arm Function
The purpose of this study is to investigate if a person with weakness or paralysis in one or both arms, can use the NuroSleeve combined powered arm brace (orthosis) and muscle stimulation system to help restore movement in one…
- Conditions
- Neurologic Diseases, Hemiparesis, Quadriplegia, Muscular Dystrophies
- Trial name
- NCT04798378
- Testing
- Neurosleeve
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
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
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Vasculitic Neuropathy
Polyneuropathy, Impairments and Physical Activity - The PolyImPAct Study
The project aims to investigate the validity, and reliability of outcome measures of muscle strength, functioning (gait, balance, and fine motor skills), physical activity, and patient-reported outcome measures of functioning…
- Conditions
- Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Vasculitic Neuropathy, POEMS Syndrome, Multifocal Motor Neuropathy
- Trial name
- PolyImPAct (NCT06040567)
- Testing
- Validity and reliability of outcome measures in polyneuropathy, Healthy controls
- Where
- Denmark
- Volunteers
- 520 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
In recent years, knowledge of neuromuscular diseases has advanced considerably, and new therapeutic avenues are beginning to emerge.
- Conditions
- Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth, Muscular Dystrophy, Myotonic Dystrophy
- Trial name
- Myokinesis (NCT07321977)
- Testing
- Gait analysis via video capture
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Hereditary Spastic Paraplegia, Spastic Ataxia
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily…
- Trial name
- TreatHSP (NCT07798674)
- Where
- 30 sites in Austria, Czechia and 7 more
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
CMT, CMT (Charcot Marie Tooth Disease)
TREMOR IN CHARCOT-MARIE-TOOTH
Tremor is a symptom that has already been described in many case reports and case series concerning patients with Charcot-Marie-Tooth (CMT) disease.
- Conditions
- CMT, CMT (Charcot Marie Tooth Disease), Charcot Marie Tooth Disease (CMT), Charcot Marie Tooth Disease
- Trial name
- CMT-TREM (NCT07570459)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Medical Center Goettingen
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
Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
Here the investigators aim to show that a focused lower extremity resistance strength training program in patients with Charcot-Marie-Tooth disease (CMT) results in increased motor strength of ankle plantar- and dorsi-flexion.
- Trial name
- NCT03715283
- Testing
- Home Ankle Strengthing Program, Standard of Care
- Where
- United States
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Anorexia Nervosa, Anorexia Nervosa Restricting Type
Novel Targetable BIOmarkers in ANorexia NervosA
The overall aim of this present study is to evaluate Growth Differentiation Factor-15 (GDF-15) and inflammatory cytokines as a possible novel and readily treatable target for the successful therapy of Anorexia Nervosa (AN).
- Trial name
- BIOANNA (NCT05885724)
- Where
- Switzerland
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland