Clinical trials: Neurogenetic Disorders
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
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
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
Alzheimer's Disease
Neurogenetic Pharmaceuticals (NGP) 555 in Healthy Young Volunteers (Single-ascending Dose)
NGP 555 is a small molecule preventative therapy aimed at reducing Alzheimer's disease amyloid buildup by targeting Abeta 42 production.
- Trial name
- NCT02534480
- Testing
- NGP 555
- Where
- United States
- Volunteers
- 40 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
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
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
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
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