Clinical trials: Neurogenetic Disorders
Muscular Dystrophies, Muscle Myopathies
Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Background: Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known.
- Conditions
- Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies
- Trial name
- NCT01568658
- Where
- United States
- Volunteers
- 2,586 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Aprepitant for the Treatment of CLIFAHDD
There are no drug treatments for individuals with Congenital Contractures of the Limb and Face, Hypotonia, and Developmental Delay (CLIFAHDD), an ultra-rare and severe neurodevelopmental disease.
- Conditions
- CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay, NALCN Channelopathy, Ataxia - Other
- Trial name
- NCT07845825
- Testing
- Aprepitant Powder for Oral Suspension
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- The University of Texas Health Science Center at San Antonio
Neurogenetic Disorders
Neurogenetics Patient Registry
The objective of this project is to develop a Neurogenetics patient database and bio repository - which includes clinical information regarding history, physical examination, laboratory testing including genetic testing (NextGen…
- Trial name
- NCT02995538
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Pittsburgh
Dystonia, Movement Disorders
Long-read Genome Sequencing for the Molecular Diagnosis of Dystonia
Dystonia is a motor disorder caused by involuntary, intermittent, or sustained muscle contractions, leading to abnormal movements or postures.
- Conditions
- Dystonia, Movement Disorders, Combined Dystonia, Complex Dystonia
- Trial name
- GenoDYT (NCT06999096)
- Testing
- Long-read whole genome sequencing
- Where
- 4 sites in France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Strasbourg, France
Neurodegenerative Disorders
Joint Consultation Between a Neurologist and a Clinical Psychologist
Joint consultations appeared a few years ago in routine medical practice, but they are still not widely used and rarely evaluated.
- Trial name
- JOCONDE (NCT05394974)
- Where
- France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Strasbourg, France
Hereditary Spastic Paraplegia, Neurodegenerative Diseases
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders.
- Conditions
- Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle
- Trial name
- NCT05354622
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Boston Children's Hospital
Neurodevelopmental Disorders, Intellectual Disability
Longitudinal Study of Neurogenetic Disorders
The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Developmental Delay, Autism Spectrum Disorder
- Trial name
- NCT03492060
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Columbia University
Charcot-Marie-Tooth Disease
A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
The COMMIT Study will assess the safety and effectiveness of FLX-787 in men and women with Charcot-Marie-Tooth disease (CMT) experiencing muscle cramps.
- Trial name
- COMMIT (NCT03254199)
- Testing
- FLX-787-ODT (orally disintegrating tablet)
- Where
- 20 sites in United States
- Volunteers
- 27 people
- Sponsor
- Flex Pharma, Inc.
Neuro-Degenerative Disease
Contribution of New Generation Oxford Nanopore-type High-throughput Sequencing in the Diagnostic Strategy of Neurogenetic Diseases.
Since 2012, NGS sequencing of long fragments or long reads has developed in various fields of research and today presents itself as a very promising alternative solution in the analysis of repeat amplifications.
- Trial name
- NEURONGS3 (NCT04621422)
- Testing
- Subject carrying an amplification of nucleotide repeats in one of the following 9 genes FMR1, DMPK, ZNF9, SCA2, JPH3, HD, FXN, C9ORF72, RFC1
- Volunteers
- 60 people
- Sponsor
- University Hospital, Bordeaux
Alzheimer Disease
Insulin, Neurogenetics and Memory in Alzheimer's Disease
This study examines the use of insulin-sensitizing compounds, as therapeutic agents for cognitive impairment in Alzheimer's disease.
- Trial name
- NCT00018382
- Testing
- rosiglitazone
- Where
- United States
- Sponsor
- US Department of Veterans Affairs
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Movement Disorders in Children, Neuro Developmental Delay
Pediatric Movement Disorders of Unknown Etiology in Vietnam (VPeMD)
This observational patient registry aims to describe the clinical phenotypes and genetic findings of Vietnamese children with movement disorders of unknown etiology.
- Conditions
- Movement Disorders in Children, Neuro Developmental Delay, Neurogenetic Disorders
- Trial name
- VPeMD (NCT07695610)
- Testing
- Whole-Exome Sequencing
- Where
- 2 sites in Vietnam
- Volunteers
- 50 people
- Sponsor
- University of Medicine and Pharmacy at Ho Chi Minh City
Alzheimer's Disease
Neurogenetic Pharmaceuticals (NGP) 555 in Healthy Volunteers (14 Day Multiple Ascending Dose)
This study involves the use of an investigational drug called NGP 555. In each group of healthy subjects, 2 people will receive placebo and 6 people will receive NGP 555.
- Trial name
- NCT02537938
- Testing
- NGP 555
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- NeuroGenetic Pharmaceuticals Inc
Neurogenetic Diseases
Advancing Neurogenetic Diagnoses Through Long-Read Sequencing
Nucleotide repeats emerge as one of the most prolific classes of genetic variations. They have the propensity to in-crease in length across generations, and have been implicated in at least 65 known neurological/…
- Trial name
- NRGEN-NGS3 (NCT07665554)
- Testing
- Skin biopsy, blood sampling
- Where
- 2 sites in France
- Volunteers
- 304 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Neurogenetic Diseases
Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
Many neurological disorders show a strong genetic basis, from hereditary diseases caused by a single mutation in a given gene, to diseases caused by combinations of strong genetic risk factors.
- Trial name
- OMID-NEURO (NCT06955624)
- Testing
- RNA and/or DNA methylation and/or protein analysis
- Where
- France
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
Healthy Children, Children With Neurodevelopmental Disorders
Electrophysiologic Sleep Phenotyping and Sleep-Dependent Neuro-maturation in Clinical and Healthy Pediatric Populations
Background: During the first few decades of life, the brain changes dramatically in shape and function. Sleep lets researchers measure these changes.
- Conditions
- Healthy Children, Children With Neurodevelopmental Disorders, Children With Neuropsychiatric Disorders, Children With Behavioral Syndromes
- Trial name
- NCT04639830
- Where
- United States
- Volunteers
- 58 people
- Sponsor
- National Institute of Mental Health (NIMH)
Ataxia
Validation of a Clinical Algorithm for the Diagnosis of Recessive Ataxias
The field of clinical diagnosis of recessive cerebellar ataxias (ARCA) is particularly complex and Next Generation Sequencing (NGS) techniques have revolutionized this neuro-genetic field.
- Trial name
- BASE-AAR (NCT04099914)
- Where
- France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Montpellier
Epilepsy in Children, Dyskinesias
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy.
- Conditions
- Epilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder
- Trial name
- NCT06585605
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Boston Children's Hospital
Hereditary Transthyretin Amyloidosis
Exploring Biomarkers in Hereditary Transthyretin Amyloidosis
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous systemic condition due to mutations in the transthyretin (TTR) gene.
- Trial name
- ELBA (NCT05929209)
- Testing
- Assessment of disease biomarkers
- Where
- Italy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Genetic Disease, Nervous System Diseases
Prospective Cohort Study of Neurogenetic Diseases
Neurogenetic diseases (NGD) represent rare and hereditary forms of neurological diseases. The goal of CNGD is to create a one-window approach for NGDs, to facilitate and accelerate participation in research projects through deep…
- Trial name
- CNGD (NCT06048523)
- Testing
- Patient cohort, Control cohort
- Where
- France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux