Clinical trials: Charcot Marie Tooth Disease
Mood Disorders
Neurofilament Light Chain Correlation With Severity of Symptoms and Cognitive Decline in Mood Disorders
Explore correlation of neurofilament light chain serum level and severity of symptoms and cognitive impairment in mood disorders Explore How novel brain markers as neurofilament light chain can be useful in detection and…
- Trial name
- NCT06877442
- Testing
- serum level of neurofilament light chain
- Volunteers
- 90 people
- Sponsor
- Assiut University
Charcot-Marie-Tooth Disease, Type IA
Biomarkers and Validation of Selected Outcome Measures (CMTBiomarker)
CMT is a rare disease for which novel treatments are being developed. Evaluation of intervention efficacy is hampered by slow progression and lack of sensitive outcome measures.
- Trial name
- NCT03386266
- Where
- Germany
- Volunteers
- 156 people
- Sponsor
- University Medical Center Goettingen
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
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
Craniosynostosis, Anesthesia
Influence of General Anesthesia on the Dynamic Changes in Brain Damage Markers During and After Craniosynostosis Operations in Infancy
The issue of anesthetics neurotoxicity is one of the most discussed topics in pediatric anesthesiology, thus it opens the question of the safety of commonly used anesthetics in the pediatric patient.
- Trial name
- TAnBrainDam (NCT05911139)
- Where
- Slovakia
- Volunteers
- 45 people
- Sponsor
- Comenius 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
Charcot Marie Tooth Disease (CMT), Pes Cavovarus
Walking Function Outcomes Following Surgical Correction With Rehabilitation Versus Physical Therapy Alone in Charcot-Marie-Tooth Disease: A Bidirectional Cohort Study
The goal of this study is to compare changes in walking ability in people with Charcot-Marie-Tooth disease (CMT) who receive two different treatment approaches for foot deformities that affect walking.
- Conditions
- Charcot Marie Tooth Disease (CMT), Pes Cavovarus, Surgery, Exercise Training
- Trial name
- CMT-WALK (NCT07432035)
- Testing
- Functional Surgery plus Rehabilitation, Physical Exercise
- Volunteers
- 200 people
- Sponsor
- Peking University Third Hospital
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
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
Charcot Marie Tooth Disease
Development and Validation of a Disability Severity Index for CMT
It is necessary for outcome measures to accurately reflect the state of health of a person in order for clinical trials to show benefit.
- Trial name
- 6604 (NCT01455623)
- Where
- United States
- Volunteers
- 291 people, healthy volunteers welcome
- Sponsor
- University of Iowa
Charcot-Marie-Tooth Disease
Survey of Current Management of Orthopaedic Complications in CMT Patients
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are frequent complications in CMT patients and orthopaedic surgery is often required.
- Trial name
- NCT02001038
- Testing
- Survey
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- University College London Hospitals
Hereditary Spastic Paraplegia, Spastic Ataxia
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily…
- Trial name
- TreatHSP (NCT07798674)
- Where
- 30 sites in Austria, Czechia and 7 more
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Ataxia Telangiectasia
Neurofilament Light- Chain in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT04605523
- Testing
- blood withdrawal
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- Johann Wolfgang Goethe 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
Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD)
Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
This is an 'N of 1', open-label, single center study to evaluate the safety of therapy with VCA-894A, an ASO designed to rescue and restore the activity of IGHMBP2, when administered by intrathecal injection.
- Trial name
- NCT07223632
- Testing
- VCA-894A
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Vanda Pharmaceuticals
Charcot-Marie-Tooth Disease Type 1A
Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
The purpose of this study is to determine whether PXT3003 is effective and safe in the treatment of Charcot-Marie-Tooth disease - Type 1 A (CMT1A).
- Trial name
- PLEO-CMT (NCT02579759)
- Testing
- PXT3003 dose 1, PXT3003 dose 2
- Where
- 30 sites in United States, Belgium and 6 more
- Volunteers
- 323 people
- Sponsor
- Pharnext S.C.A.
Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae.
- Conditions
- Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder, RCDP - Rhizomelic Chondrodysplasia Punctata, D-Bifunctional Protein Deficiency
- Trial name
- NCT01668186
- Where
- Canada
- Volunteers
- 244 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
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
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
Charcot-Marie-Tooth Disease
Hearing and Balance Disorders in Peripheral Neuropathy
The long term goal of this proposal is to precisely characterize the auditory and vestibular abilities of children with Charcot-Marie-Tooth (CMT) and how these abilities evolve during the progression of the disorder.
- Trial name
- NCT05827419
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Nemours Children's Clinic