Clinical trials: Neurogenetic Disorders
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
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
Epilepsy-Dyskinesia, Epilepsy
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who…
- Conditions
- Epilepsy-Dyskinesia, Epilepsy, Dyskinesia, EDS
- Trial name
- NCT06967727
- Where
- United States
- Volunteers
- 700 people
- Sponsor
- Boston Children's Hospital
HSP, Hereditary Spastic Paraplegia
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
- Conditions
- HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50
- Trial name
- NCT06948019
- Testing
- BFB-101 (AAV9-CBh-AP4B1)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- BlackfinBio Ltd
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)
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
Spinal Muscular Atrophy (SMA)
Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials
This is a global, prospective, multi-center study that is designed to assess the long-term safety and efficacy of OAV101 in patients who participated in an OAV101 clinical trial.
- Trial name
- SPECTRUM (NCT05335876)
- Testing
- onasemnogene abeparvovec
- Where
- 32 sites in United States, Australia and 17 more
- Volunteers
- 20 people
- Sponsor
- Novartis Pharmaceuticals
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
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
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
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
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
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)
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
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
Genetic Disease, Neurogenetic Disorders
Pediatric Neurogenetic Diagnosis Support Platform
This study evaluates a diagnostic support platform, DIAGEN-IA, designed to identify pediatric neurological diseases with a genetic basis.
- Trial name
- DIAGEN-IA (NCT06725901)
- Testing
- Web-Based Application
- Where
- Chile
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Andres Bello
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
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
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
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