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6 recruiting studies matching your filters

RNAseq for the Evaluation of Splicing and Cryptic or Unrecognized Effects

The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared t…

Genetic ConditionsGenetic Disorders

Estimated

~$10 – $675

University of California, San FranciscoNCT07787975

Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

Brief Summary: Nonimmune hydrops fetalis (NIHF) is a potentially fatal condition characterized by abnormal fluid accumulation in two or more fetal compartments…

Nonimmune Fetal HydropsNonimmune Hydrops in NeonateGenetic Disorders

Estimated

~$10 – $750

Thomas Jefferson UniversityNCT03911531

Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository

The objective of this project is to develop a Neurogenetics patient database and bio repository - which includes clinical information regarding history, physic…

Neurogenetic Disorders

Estimated

~$10 – $750

University of PittsburghNCT02995538

Functional and Neurodevelopmental Outcomes Following Intensive Multimodal Neurorehabilitation in Pediatric Patients With Neurodevelopmental Disorders, Including Chromosomal Abnormalities

This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitati…

Neurodevelopmental DisordersNeurodevelopmental Disorders (NDD)Neurodevelopmental Disorders and Developmental Abnormalities+20 more

Estimated

~$10 – $1,125

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

Phase 1

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

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…

HSPHereditary Spastic ParaplegiaHereditary Spastic Paraparesis+10 more

Estimated

~$10 – $8,750

BlackfinBio LtdNCT06948019