Clinical trials: Charcot Marie Tooth Disease
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
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
Amyotrophic Lateral Sclerosis
Registry Study of Assistive Devices, Medicines and Healthcare Measures in ALS, SMA and Other Neurological Diseases.
This registry study aims to collect data on the provision of assistive devices, medicines, and other healthcare measures, such as ventilation therapy and nutrition support, in patients with Amyotrophic lateral sclerosis (ALS)…
- Trial name
- NCT05852418
- Where
- 16 sites in Germany
- Volunteers
- 25,000 people
- Sponsor
- Ambulanzpartner Soziotechnologie APST GmbH
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
Persistent Post-concussive Syndrome, Concussion Post Syndrome
Hyperbaric Oxygen Effects on Persistent Post-concussive Symptoms
Persistent post-concussive symptoms (PPCS) are a source of significant burden among a subset of patients with concussion with prevalence rates previously reported between 11 - 82% based on timing of assessment, diagnostic…
- Trial name
- HOINPCS (NCT05173818)
- Testing
- Hyperbaric oxygen at 1.5 ATA
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Essentia Health
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
Gingivitis, Periodontitis
TBC1D15 / Rab7 / Fis1 Pathway in Periodontal Disease
This study will look at certain proteins in the fluid found around the gums (called gingival crevicular fluid, or GCF) of people with healthy gums, gingivitis (mild gum inflammation), or periodontitis (more severe gum disease).
- Trial name
- NCT07835477
- Where
- Turkey (Türkiye)
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Inonu University
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
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)