Browse studies

Find your next paid study

10 recruiting studies matching your filters

Defining the Brain Phenotype of Children With 7q11.23 Copy Number Variation, Including Williams Syndrome and 7q11.23 Duplication Syndrome

Background: \- Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7…

Williams SyndromeDuplication

Estimated

~$10 – $675

National Institute of Mental Health (NIMH)NCT01132885

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders …

16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+184 more

Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants

The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnos…

Williams Beuren SyndromeWilliams SyndromeWilliams Beuren Region Duplication+1 more

Estimated

~$10 – $750

University of PennsylvaniaNCT06930417

Clinical and Molecular Biomarker Studies in RAI1-Related Disorders

Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and…

RAI1 Gene 17P11.2 Deletion+Duplication

Estimated

~$10 – $750

Baylor College of MedicineNCT06274164

The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes

The 3q29 deletion syndrome is caused by a deletion of a small part of human chromosome 3, and the duplication syndrome is caused by a duplication of this same …

Microdeletion 3q29 SyndromeMicroduplication 3q29 Syndrome

Estimated

~$10 – $750

Rutgers, The State University of New JerseyNCT02447861

Phase 1

A Phase 1-2, Double-Blind, Sham-Controlled Multiple Ascending Dose Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Patients With MECP2 Duplication Syndrome

The primary purpose of this study is to evaluate the safety and tolerability of ION440.

Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Estimated

~$10 – $8,750

Ionis Pharmaceuticals, Inc.NCT06430385

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, …

Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more

Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome

Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increase…

Lynch SyndromeLynch Syndrome ILynch Syndrome II+19 more

Estimated

~$10 – $750

San Raffaele UniversityNCT06708429

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disor…

Mitochondrial DisordersMitochondrial Genetic DisordersMitochondrial Diseases+2 more

Estimated

~$10 – $750

Columbia UniversityNCT01694940

The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to s…

LeukodystrophyWhite Matter DiseaseLeukoencephalopathies+63 more