Clinical trials: Charcot Marie Tooth Disease
Amyotrophic Lateral Sclerosis, Chronic Inflammatory Demyelinating Neuropathy
High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project
The primary objective is to demonstrate, in a population of chronic neuromuscular disease the non-inferiority of a rehabilitation treatment integrated with robotic and/or technological devices compared to traditional…
- Conditions
- Amyotrophic Lateral Sclerosis, Chronic Inflammatory Demyelinating Neuropathy, Charcot-Marie-Tooth Disease
- Trial name
- Fit4MR-ChrMND (NCT06881979)
- Testing
- High-tech rehabilitative treatment, Rehabilitation
- Where
- 7 sites in Italy
- Volunteers
- 60 people
- Sponsor
- Istituti Clinici Scientifici Maugeri SpA
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
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
Chronic Inflammatory Demyelinating Polyneuropathy, Charcot-Marie-Tooth Disease, Type IA
Quantification of Nerve Stiffness in Neuropathies
This project aims to understand how nerve mechanical properties are altered in patients with rare peripheral neuropathies . Stiffness of various peripheral nerves will be measured using ultrasound shear wave elastography.
- Conditions
- Chronic Inflammatory Demyelinating Polyneuropathy, Charcot-Marie-Tooth Disease, Type IA, Anti-MAG Neuropathy
- Trial name
- Nerf_SSI (NCT03397303)
- Testing
- elastography measurements
- Where
- France
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Charcot-Marie-Tooth Disease Type 4J
Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
First-in-human Phase 1/2, open-label study to evaluate the safety, tolerability, and efficacy of a single lumbar intrathecal dose of ELP-02 to individuals with CMT4J.
- Trial name
- NCT07447557
- Testing
- ELP-02
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- Elpida Therapeutics SPC
Advanced Multiple Sclerosis, Progressive Multiple Sclerosis
ChariotMS - Cladribine to Halt Deterioration in People With Advanced Multiple Sclerosis
MS is a chronic inflammatory and degenerative disease of the central nervous system (CNS) affecting more than 120,000 people in the UK.and 2.5 million people worldwide.
- Trial name
- ChariotMS (NCT04695080)
- Testing
- Cladribine (MAVENCLAD®)
- Where
- 22 sites in United Kingdom
- Volunteers
- 204 people
- Sponsor
- Queen Mary University of London
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD)
Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
This is an 'N of 1', open-label, single center study to evaluate the safety of therapy with VCA-894A, an ASO designed to rescue and restore the activity of IGHMBP2, when administered by intrathecal injection.
- Trial name
- NCT07223632
- Testing
- VCA-894A
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Vanda Pharmaceuticals
Relapsing Multiple Sclerosis
Efficacy and Safety of Remibrutinib Compared to Teriflunomide in Participants With Relapsing Multiple Sclerosis (RMS) (REMODEL-1)
To compare the efficacy and safety of remibrutinib versus teriflunomide in patients with relapsing multiple sclerosis (RMS)
- Trial name
- NCT05147220
- Testing
- Remibrutinib, Teriflunomide
- Where
- 200 sites in United States, Argentina and 32 more
- Volunteers
- 1,000 people
- Sponsor
- Novartis Pharmaceuticals
Relapsing Multiple Sclerosis
Efficacy and Safety of Remibrutinib Compared to Teriflunomide in Participants With Relapsing Multiple Sclerosis (RMS) (REMODEL-2)
To compare the efficacy and safety of remibrutinib versus teriflunomide in patients with relapsing multiple sclerosis (RMS)
- Trial name
- NCT05156281
- Testing
- Remibrutinib, Teriflunomide
- Where
- 223 sites in United States, Argentina and 25 more
- Volunteers
- 1,007 people
- Sponsor
- Novartis Pharmaceuticals
Cardiac Arrest (CA), Intensive Care Unit (ICU) Admission
Kinetics and Prognostic Value of NeuroFilament Light in Post-cardiac Arrest: A Prospective Multicenter Study
The purpose of this study is to assess the prognostic value of absolute value and kinetic of neurofilament light chain (NFL) collected at different time points (at admission, 12h, 24h, 48h, 72h, 96h, and day 7 after ICU…
- Conditions
- Cardiac Arrest (CA), Intensive Care Unit (ICU) Admission, Return of Spontaneous Circulation, Comatose
- Trial name
- CINEFIL (NCT07760636)
- Testing
- Value of neurofilament light chain (NFL) at different time points
- Where
- France
- Volunteers
- 270 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Charcot-Marie-Tooth Disease Type 1A
Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A
Charcot-Marie-Tooth (CMT) disease is caused by a genetic abnormality involving the PMP22 gene, resulting in demyelination of the peripheral nerves.
- Trial name
- EQUIVIB-CMT (NCT07726043)
- Testing
- Multidisciplinary rehabilitation program
- Where
- France
- Volunteers
- 30 people
- Sponsor
- UGECAM PACA et Corse
Carpal Tunnel Syndrome, Median Nerve Compression
Kinesio Taping for Pain, Median Nerve Morphology, and Quality of Life in Patients With Carpal Tunnel Syndrome
Carpal tunnel syndrome is a common condition caused by compression of the median nerve at the wrist. It can result in pain, numbness, tingling, weakness, and difficulty performing daily activities.
- Conditions
- Carpal Tunnel Syndrome, Median Nerve Compression, Entrapment Neuropathy
- Trial name
- NCT07741708
- Testing
- Kinesio Taping, Nerve and Tendon Gliding Exercises
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people
- Sponsor
- Istanbul Gelisim University
Charcot-Marie-Tooth Neuropathy Type 1A
Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A
This clinical trial is an open-label one-time injection dose study in which scAAV1.tMCK.NTF3 will be administered by intramuscular injections into muscles in both legs in CMT1A subjects with PMP22 gene duplication.
- Trial name
- NCT03520751
- Testing
- scAAV1.tMCK.NTF3
- Where
- United States
- Sponsor
- Nationwide Children's Hospital
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
Charcot-Marie-Tooth Disease, Type 1A
A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
The purpose of this study is to characterize the safety, tolerability, and pharmacokinetics of EDK060 as compared to placebo in adult patients with CMT1A.
- Trial name
- NCT07140614
- Testing
- EDK060, dose A, EDK060, dose B, EDK060, dose C
- Where
- 4 sites in Canada
- Volunteers
- 28 people
- Sponsor
- Novartis Pharmaceuticals
Down Syndrome
Non-Invasive Brain Stimulation to Improve Language in Down Syndrome.
Down syndrome (DS) is associated with cognitive deficits, caused by alterations in neuroplasticity and synaptic transmission. Non-invasive brain stimulation techniques, such as transcranial direct current stimulation (tDCS), can…
- Trial name
- NCT07044804
- Testing
- Active Group (Active Anodal tDCS to the left IFG or Cathodal tDCS to the left IFG)
- Where
- Italy
- Volunteers
- 36 people
- Sponsor
- Floriana Costanzo
Meralgia Paresthetica, Lateral Femoral Cutaneous Nerve Entrapment
The Effectiveness of Low-Level Laser Therapy in the Treatment of Meralgia Paresthetica
Patients diagnosed with meralgia paresthetica via electromyography (EMG), who present with neuropathic complaints on the lateral thigh to the Physical Medicine and Rehabilitation outpatient clinics of our hospital, will be…
- Trial name
- NCT07335822
- Testing
- Transcutaneous Electrical Nerve Stimulation (TENS), Low-Level Laser Therapy
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 36 people
- Sponsor
- Istanbul Training and Research Hospital
Traumatic Brain Injury
The Biomarkers in the Hyperbaric Oxygen Brain Injury Treatment Trial (BioHOBIT)
There are no therapeutic agents that have been shown to improve outcomes from severe traumatic brain injury (TBI). Critical barriers to progress in developing treatments for severe TBI are the lack of: 1) monitoring biomarkers…
- Trial name
- NCT04855396
- Where
- 11 sites in United States, Canada
- Volunteers
- 150 people
- Sponsor
- University of Michigan