Clinical trials: Charcot Marie Tooth Disease, open to volunteers
Intracerebral Hemorrhage, Hemorrhagic Stroke
Outcome Prediction and Recovery After Spontaneous Intracerebral Haemorrhage
Spontaneous intracerebral haemorrhage (ICH) is a severe form of stroke with high mortality and frequent long-term disability. Current tools to predict how an individual patient will recover are limited.
- Trial name
- CR-4-Health (NCT07882784)
- Where
- 3 sites in Austria, Slovenia
- Volunteers
- 300 people
- Sponsor
- University Medical Centre Maribor
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 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
Relapse Remitting Multiple Sclerosis
Early Versus Delayed Start of Ocrevus Zunovo for Relapsing Multiple Sclerosis
This study will compare starting Ocrevus Zunovo soon after an active episode of relapsing multiple sclerosis (MS) with starting it later.
- Trial name
- STAT (NCT07878923)
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Oklahoma Medical Research Foundation
Neurodegenerative Diseases, Dementia
Neurofilament Light Chain And Voice Acoustic Analyses In Dementia Diagnosis
This cohort study aims to determine if a blood test can aid with diagnosing dementia in anyone presenting with cognitive complaints to a single healthcare network.
- Trial name
- NAVAIDD (NCT06339190)
- Testing
- Venepuncture
- Where
- 2 sites in Australia
- Volunteers
- 1,000 people
- Sponsor
- Monash University
Genetic and Inflammatory Polyneuropathies
Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in France
To describe the clinical, electrophysiological, and genetic characteristics of patients with genetic and inflammatory polyneuropathies in France.
- Trial name
- POLYFRA (NCT07851844)
- Where
- 26 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Alcohol Use Disorder
Study on Thiamine Supplementation to REduce braiN Injury Associated With Chronic Alcohol Use in Outpatients With Alcohol Use Disorder
Chronic alcohol use and alcohol use disorder (AUD) affect 10% of the population in France. They are associated with brain damage and cognitive impairment.
- Trial name
- STRENA (NCT07844720)
- Testing
- Thiamine
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
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
Parkinson Disease
Lithium for Parkinson's: an Extension Trial
This study will examine the effects of 24 weeks of lithium therapy achieving serum lithium levels of 0.25-0.50mmol/L on MRI and blood-based biomarkers in Parkinson's disease patients who have completed one of our current 24-week…
- Trial name
- NCT06592014
- Testing
- Lithium aspartate
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- State University of New York at Buffalo
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)
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
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
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
Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT)
Personalized Training for People With Rare Neuromuscular Disorders
The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders…
- Conditions
- Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT), Facioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- PETRA-NMD (NCT06708468)
- Testing
- Exercise, Usual Care
- Where
- 5 sites in Norway
- Volunteers
- 120 people
- Sponsor
- Oslo University Hospital