Clinical trials: CMT - 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
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
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Carpal Tunnel Syndrome, Median Nerve Entrapment
Hydrodissection in Carpal Tunnel Syndrome
The aim of this study was to compare the effectiveness of perineural hydrodissection methods performed with 5 mL D5W solution and three different injection techniques [ultrasound-guided in-plane, ultrasound-guided out-of-plane…
- Trial name
- KTS (NCT07207460)
- Testing
- Comparison of three different injection techniques using hydrodissection with 5% dextrose in the treatment of CTS
- Where
- Turkey (Türkiye)
- Volunteers
- 74 people
- Sponsor
- Ankara City Hospital Bilkent
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
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory…
- Trial name
- CMT4J (NCT03810508)
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Neurogene Inc.
Anterior Cutaneous Nerve Entrapment Syndrome, Nerve Entrapment Syndrome
Sodium Channel Mutations in Patient With the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)
The goal of this observational study is to learn about sodium channel (Nav) mutations in patients with the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES).
- Conditions
- Anterior Cutaneous Nerve Entrapment Syndrome, Nerve Entrapment Syndrome, Chronic Pain Syndrome
- Trial name
- Nav-ACNES (NCT05877274)
- Testing
- Sodium channel mutation
- Where
- Netherlands
- Volunteers
- 50 people
- Sponsor
- Maxima Medical Center
Nephrectomy
HYbrid RObotic Surgery in Urology
The HYbrid RObotic Surgery in urology (HYROS) study is an early feasibility clinical investigation of a new medical device under the commercial name of Bitrack System.
- Trial name
- HYROS (NCT05864040)
- Testing
- Bitrack System-assisted laparoscopic radical/simple nephrectomy
- Where
- Spain
- Volunteers
- 3 people
- Sponsor
- Rob Surgical Systems S.L.
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
Anterior Cutaneous Nerve Entrapment Syndrome, Nerve Entrapment Syndrome
A Pilot Study to Explore the Use of Skin Biopsy as Diagnostic Tool in Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)
ACNES is a neuropathic pain condition of the abdominal wall. It is a clinical diagnosis based on patient's history and physical examination. No diagnostic test is available to confirm the diagnosis.
- Conditions
- Anterior Cutaneous Nerve Entrapment Syndrome, Nerve Entrapment Syndrome, Chronic Pain Syndrome, Diagnosis
- Trial name
- Biopsy-ACNES (NCT05678127)
- Testing
- Skin biopsy
- Where
- Netherlands
- Volunteers
- 12 people
- Sponsor
- Maxima Medical Center
Hereditary Motor and Sensory Neuropathy, Charcot-Marie-Tooth
Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
The project will develop knowledge about physical activity in persons with Charcot-Marie-Tooth (CMT) in Norway. We plan to explore instruments to measure physical activity level for the target-group at the community level.
- Conditions
- Hereditary Motor and Sensory Neuropathy, Charcot-Marie-Tooth, Polyneuropathies
- Trial name
- NCT04461613
- Testing
- Original IPAQ followed by a revised one., Revised IPAQ followed by an original one.
- Where
- Norway
- Volunteers
- 20 people
- Sponsor
- Oslo University Hospital
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)
Frontotemporal Dementia (FTD), GRN Related Frontotemporal Dementia
Predict to Prevent PGRN Disease
Progranulin (GRN or PGRN) mutations are among the most common genetic causes of frontotemporal lobar degeneration (FTLD). With the advent of gene-specific therapeutic interventions, an accurate knowledge of the presymptomatic…
- Trial name
- PREVENT-PGRN (NCT06711510)
- Testing
- Clinical, behavioral and cognitive evaluation, blood sampling, brain MRI
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Huntington Disease
Project AWARE 2.0 to Improve Awareness, Willingness and Ability for Research and Enrollment in Clinical Research
The Project AWARE 2.0 Survey is intended to gain knowledge about the feelings, attitudes, and beliefs of HD family members, care partners and others affected by HD towards the way drug trials and observational studies are…
- Trial name
- NCT06343220
- Where
- United States
- Volunteers
- 131 people
- Sponsor
- Huntington Study Group
Traumatic Brain Injury (TBI), Chronic Traumatic Encephalopathy (CTE)
The Effects of Fish Oil Supplementation on the Brain Health of Collegiate Football Athletes
Determine if the daily docosahexaenoic acid (DHA)/eicosapentaenoic acid (EPA) supplement will reduce serum levels of biomarkers of sub-concussion injuries over a course of American football season among collegiate football…
- Trial name
- NCT04796207
- Testing
- Fish Oil (DPA+EPA 2:1 ratio) Capsules, High Oleic Safflower Oil Capsules
- Where
- United States
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- University of Arizona
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
Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
The object of this research is to test the effectiveness of Coenzyme Q10 (CoQ10) on symptoms of weakness, fatigue, and pain in persons with Charcot-Marie-Tooth disease (CMT).In this study we also intend to examine the impact of…
- Trial name
- NCT00541164
- Testing
- Coenzyme Q10
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Memorial Medical Center
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
Parkinson Disease
Evaluation of Functional and Biochemical Effectiveness of a Strength Training Protocol in Parkinson's Disease
Parkinson's Disease (PD) is a complex neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons, which results in a range of motor symptoms such as tremor, rigidity, and bradykinesia, as well as…
- Trial name
- POWER-PD (NCT07095400)
- Testing
- strength training
- Where
- Spain
- Volunteers
- 22 people
- Sponsor
- Universidad Villanueva