Clinical trials: Charcot Marie Tooth Disease (CMT)
MS (Multiple Sclerosis), Multiple Sclerosis (MS) - Relapsing-remitting
Comparison of Efficacy and Safety in Patients Switching From MabThera® to Rixathon® in Relapsing-Remitting Multiple Sclerosis
This observational study investigates if switching from MabThera® to Rixathon® is associated with changes in disease activity and/or safety in people with multiple sclerosis (MS).
- Conditions
- MS (Multiple Sclerosis), Multiple Sclerosis (MS) - Relapsing-remitting, Multiple Sclerosis (Relapsing Remitting)
- Trial name
- NCT07235644
- Where
- Sweden
- Volunteers
- 184 people
- Sponsor
- Uppsala University
Charcot-Marie-Tooth Disease
A Registered Cohort Study on Charcot-Marie-Tooth Disease
The aim of the study is to analyze the natural history data data from Charcot-Marie-Tooth disease and related disorders in China, to assess the clinical, genetic, epigenetic features of patients with Charcot-Marie-Tooth disease…
- Trial name
- NCT04010188
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Ning Wang, MD., PhD.
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
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
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
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathies
Ascorbic Acid Treatment in CMT1A Trial (AATIC)
Charcot-Marie-Tooth type IA (CMT1A) is the most prevalent hereditary peripheral neuropathy. Demyelination of peripheral nerves is the hallmark of CMT1A.
- Trial name
- AATIC (NCT00271635)
- Testing
- ascorbic acid
- Where
- Netherlands
- Volunteers
- 13 people
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Hereditary Spastic Paraplegia, Primary Lateral Sclerosis
Spastic Paraplegia - Centers of Excellence Research Network
The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and…
- Conditions
- Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, SPG4, SPG5A
- Trial name
- SP-CERN (NCT06553976)
- Where
- 11 sites in United States
- Volunteers
- 100 people
- Sponsor
- Boston Children's Hospital
Hypoxic-Ischemic Encephalopathy
A Study of a Blood Marker in Newborns With Brain Injury Caused by Lack of Oxygen at Birth
Perinatal asphyxia is a significant health problem with an incidence of 1 to 8 per 1,000 live births and can lead to serious morbidity and mortality during the neonatal period.
- Trial name
- NCT07292220
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Mustafa Gürkan
Charcot-Marie-Tooth Disease
Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
Irisin is an exercise-mimetic myokine secreted by skeletal muscle. Compelling evidence in animal models and humans showed that Irisin prevents onset of musculoskeletal atrophy and its low serum levels are predictive of…
- Trial name
- IRICDE (NCT04786522)
- Testing
- Bioimpedenziometry, Handgrip strenght evaluation, Evaluation on blood specimens
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- University of Bari
Carpal Tunnel Syndrome, Diagnosis
Statistically Analysis of Carpal Tunnel Syndrome Diagnosis
Trap neuropathies; They are compression neuropathies that occur as a result of peripheral nerves being compressed for various reasons along their anatomical paths.
- Trial name
- NCT05584839
- Testing
- Statistically Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people
- Sponsor
- İSMAİL CEYLAN
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 Ia
High Dose Ascorbic Acid Treatment of CMT1A
This study will look at the impact of ascorbic acid (Vitamin C) on the progression of disease in people with CMT1A as compared to volunteers receiving a placebo.
- Trial name
- NCT00484510
- Testing
- Ascorbic acid (Vitamin C)
- Where
- 3 sites in United States
- Volunteers
- 110 people
- Sponsor
- Wayne State University
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Charcot Marie Tooth Disease, DIFGAN
Genotype/Phenotype Correlation of MORC2 Mutations
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations.
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth
- Trial name
- PhenoMORC2 (NCT07038239)
- Testing
- Skin biopsy, Blood sample
- Where
- 12 sites in France
- Volunteers
- 45 people
- Sponsor
- Hospices Civils de Lyon
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)
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
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
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
Idiopathic Toe Walking, Cerebral Palsy
The Effect of Targeting the Plantaris Muscle-tendon in Surgical Correction of Ankle Equinus in Children
Tight ankle muscles can produce ankle equinus (limited ability to pull the foot upward) and occur often in children, significantly impacting their ability to walk.
- Conditions
- Idiopathic Toe Walking, Cerebral Palsy, Hereditary Spastic Paraparesis, Traumatic Brain Injury
- Trial name
- Plantaris Sx (NCT07090057)
- Testing
- Tendoachilles (TA) lengthening or gastrocnemius (GN) recession, then Plantaris tenotomy, Plantaris tenotomy, then Tendoachilles (TA) lengthening or gastrocnemius (GN) recession
- Where
- Canada
- Volunteers
- 42 people
- Sponsor
- University of Alberta
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