Clinical trials: Charcot-Marie-Tooth
Peroneal Muscular Atrophy
Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
This is a cross-sectional study to clarify the gene lineage distribution of CMT genes in CMT patients in my country, draw a frequency map of CMT gene distribution, and assist in determining the genetic diagnosis strategy of CMT…
- Trial name
- NCT04967716
- Testing
- basic information, venous blood test
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Peking University Third Hospital
Carpal Tunnel Syndrome
Median Nerve Strain and Applied Pressure Measurement in the Carpal Tunnel Syndrome Patients
The aim of this study is to investigate diagnostic accuracy of median nerve strain and applied pressure measurement . Idiopathic carpal tunnel syndrome patients and healthy controls will be evaluated by ultrasound.
- Trial name
- NCT04027998
- Testing
- strain and applied pressure measurement
- Where
- Japan
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Tokyo Medical University
Cerebral Palsy, Acquired Brain Injury
Assessment of the Psychophysical State During Rehabilitation Treatment With Lokomat
The use of robotic technologies in rehabilitation is an increasingly widespread practice in the health sector: the Lokomat is a medical device intended for walking rehabilitation, consisting of an exoskeleton, a treadmill and a…
- Conditions
- Cerebral Palsy, Acquired Brain Injury, Hereditary Spastic Paraplegia
- Trial name
- NCT05767268
- Testing
- Lokomat
- Where
- Italy
- Volunteers
- 48 people
- Sponsor
- IRCCS Eugenio Medea
Charcot-Marie-Tooth Disease
Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
The study will consist of 2 periods: Double-blind Treatment and Open-Label Extension(OLE) Period. -Double-blind Treatment Period - This will be randomized, double-blind, placebo-controlled part of the study which will be…
- Trial name
- PREMIER (NCT04762758)
- Testing
- (RS)-baclofen, naltrexone hydrochloride and D-sorbitol
- Where
- 50 sites in United States, Belgium and 7 more
- Volunteers
- 350 people
- Sponsor
- Pharnext S.C.A.
Cubital Tunnel Syndrome
Treatment for Cubital Tunnel Syndrome
The researchers want to find out the best treatment for cubital tunnel. The researchers establish the degree of nerve compression and then the patients are randomised to different treatment alternatives, ranging from conservative…
- Trial name
- NCT00184158
- Testing
- decompression
- Where
- Norway
- Volunteers
- 81 people
- Sponsor
- Norwegian University of Science and Technology
Giant Axonal Neuropathy
Giant Axonal Neuropathy Natural History Study
Giant Axonal Neuropathy (GAN) is a devastating and rare childhood disease. Children with GAN develop increasing muscle weakness, impaired sensation, and at times mental retardation.
- Trial name
- NCT01503125
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Columbia University
Carpal Tunnel Syndrome
Comparative Effect of Scaphoid, Hamate Mobilization and Neural Mobilization in Patients With Carpal Tunnel Syndrome
To rule out the effects bone mobilization and neural mobilization in Carpal Tunnel Syndrome.
- Trial name
- NCT05261880
- Testing
- Neural mobilization, Scaphoid , hamate mobilization
- Where
- Pakistan
- Volunteers
- 42 people
- Sponsor
- Riphah International University
Charcot Marie Tooth Disease
Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
- Trial name
- INC-6603 (NCT01203085)
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 1,201 people
- Sponsor
- University of Iowa
Carpal Tunnel Syndrome
Ultrasonographic Assessment of Carpal Tunnel Syndrome
Mucopolysaccharidosis are lysosomal storage disorders such as Hunter, Hurler, and Sanfilippo syndromes. These patients have a genetic enzyme deficiency that results in the inability to degrade glycosaminoglycans.
- Trial name
- NCT02196220
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Utah
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Dystonia, Drug Induced Dystonia
Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia
This research involves retrospective and prospective studies for clinical validation of a DystoniaNet deep learning platform for the diagnosis of isolated dystonia.
- Conditions
- Dystonia, Drug Induced Dystonia, Parkinson Disease, Essential Tremor
- Trial name
- NCT05317390
- Testing
- DystoniaNet-based diagnosis of isolated dystonia
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts Eye and Ear Infirmary
Hereditary Spastic Paraplegia
STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
Our goal is to create a solid and harmonious disease registry of patient affected by hereditary spastic paraplegia (HSP) that facilitates the collection and management of patients' data over time encouraging the research and the…
- Trial name
- NCT06572046
- Where
- Italy
- Volunteers
- 500 people
- Sponsor
- IRCCS Fondazione Stella Maris
Carpal Tunnel Syndrome
The Effectiveness of Extracorporeal Shock Wave Therapy for Management of Carpal Tunnel Syndrome
Peripheral nerve entrapment neuropathies are the most common mononeuropathies in clinical practice. Carpal Tunnel Syndrome (CTS), n.
- Trial name
- NCT05681663
- Testing
- Electroshock Wave therapy
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Ahi Evran University Education and Research Hospital
Carpal Tunnel Syndrome, Carpal Tunnel Release
Carpal Tunnel Release Through Mini Transverse Approach
Carpal tunnel release through dorsal wrist crease Mini Transverse incision, about 1.5 cm length.
- Conditions
- Carpal Tunnel Syndrome, Carpal Tunnel Release, Carpal Tunnel Surgery, Carpal Tunnel Transverse Approach
- Trial name
- CTRMTA (NCT02766114)
- Testing
- Carpal tunnel release through Mini Transverse Approach
- Where
- Syria
- Volunteers
- 43 people
- Sponsor
- Issa, Abdulhamid Sayed, M.D.
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
CTS
Pre-operative Sonographic Assessment of The Median Nerve in Carpal Tunnel Syndrome. Does it Affect The Operative Procedure?
Sonographic Assessment of The Median Nerve in Carpal Tunnel Syndrome to assess the surgical importance and added value of superficial ultrasonography in assessment of the median nerve in CTS.
- Trial name
- NCT03082027
- Testing
- ultrasonography
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Minia University
Hereditary Spastic Paraplegia
Calcium Folinate Treatment of Spastic Paraplegia 56
SPG56 is one of the complicated and early-onset HSP subtypes caused by genetic mutations in CYP2U1. So far, there is no standardized and specific clinical therapy for SPG56.
- Trial name
- CFT-SPG56 (NCT06478238)
- Testing
- calcium folinate
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shanghai 6th People's Hospital
Charcot-Marie-Tooth Disease With Sorbitol Dehydrogenase Deficiency (CMT-SORD)
Confirmatory Study of Govorestat in CMT-SORD
This study is designed to assess the long-term efficacy and clinical benefit of AT-007 in patients with CMT-SORD. This randomized, double-blind study will assess the effect of govorestat compared to placebo in patients with…
- Trial name
- NCT07191912
- Testing
- Govorestat
- Where
- 13 sites in United States, Australia and 5 more
- Sponsor
- Applied Therapeutics, Inc.
Alström Syndrome
Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome
Phase 2, open-label, single-arm, multi-centre study evaluating the long term safety and tolerability of PBI-4050 in subjects with Alström Syndrome who have completed a preceding ProMetic-sponsored Alström Syndrome study with…
- Trial name
- NCT03184584
- Testing
- PBI-4050
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Liminal BioSciences Ltd.
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)