Clinical trials: Neurogenetic Diseases
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
Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder
Neurogenetics and Multi-omics of Neuroinflammatory Diseases in Multiplex Families to Improve Patients Health
The goal of this observational study is to learn why some families have several members with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), or MOG antibody-associated disease (MOGAD).
- Conditions
- Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, MOG Antibody-Associated Disease, Demyelinating Autoimmune Diseases, CNS
- Trial name
- NeuroDIP (NCT07902479)
- Testing
- Blood sampling and multi-omic profiling
- Where
- 5 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
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
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
Spastic Paraplegia, Hereditary
Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5
The purpose of this project is to study the efficacy of three candidate molecules (Xenbilox, Tahor and Resveratrol) in order to decrease the production of oxysterols by reducing the synthesis of cholesterol and/or regulate the…
- Trial name
- SPA-M (NCT02314208)
- Testing
- Xenbilox, Resveratrol, Tahor
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
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