Clinical trials: Charcot Marie Tooth Disease
Charcot Marie Tooth Disease, Inherited Peripheral Neuropathy
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
The purpose of this research study is to create and validate two patient reported outcome (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in patients with inherited neuropathies.
- Trial name
- DSI and HMSN (NCT02194010)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 563 people
- Sponsor
- University of Iowa
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
Hereditary Spastic Paraplegia
Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
Background: Hereditary spastic paraplegia (HSP) usually progresses slowly. Researchers want to learn more about how its symptoms change over time.
- Trial name
- NCT02859428
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
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
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
Peripheral Neuropathy, Neuro-Degenerative Disease
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J.
- Conditions
- Peripheral Neuropathy, Neuro-Degenerative Disease, Neuromuscular Diseases
- Trial name
- CMT4J (NCT06151600)
- Where
- 3 sites in United States
- Volunteers
- 20 people
- Sponsor
- Elpida Therapeutics SPC
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)
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
Primary Lateral Sclerosis, Hereditary Spastic Paraplegia
Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
This study will use a magnetic resonance imaging technique called nuclear magnetic spectroscopy (H-MRS) to define the pathology and progression of primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral…
- Conditions
- Primary Lateral Sclerosis, Hereditary Spastic Paraplegia, Amyotrophic Lateral Sclerosis
- Trial name
- NCT00023075
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
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, 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
Neurologic Diseases, Hemiparesis
NuroSleeve Powered Brace & Stimulation System to Restore Arm Function
The purpose of this study is to investigate if a person with weakness or paralysis in one or both arms, can use the NuroSleeve combined powered arm brace (orthosis) and muscle stimulation system to help restore movement in one…
- Conditions
- Neurologic Diseases, Hemiparesis, Quadriplegia, Muscular Dystrophies
- Trial name
- NCT04798378
- Testing
- Neurosleeve
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
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
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
Down Syndrome
Non-Invasive Brain Stimulation to Improve Language in Down Syndrome.
Down syndrome (DS) is associated with cognitive deficits, caused by alterations in neuroplasticity and synaptic transmission. Non-invasive brain stimulation techniques, such as transcranial direct current stimulation (tDCS), can…
- Trial name
- NCT07044804
- Testing
- Active Group (Active Anodal tDCS to the left IFG or Cathodal tDCS to the left IFG)
- Where
- Italy
- Volunteers
- 36 people
- Sponsor
- Floriana Costanzo
Charcot-Marie-Tooth Disease, Peripheral Neuropathy
NT-3 Levels and Function in Individuals With CMT
This study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function.
- Conditions
- Charcot-Marie-Tooth Disease, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy
- Trial name
- NCT05011006
- Testing
- NT3 blood draw
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Zarife Sahenk
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
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