8 recruiting studies matching your filters
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resource…
Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant …
The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases t…
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare g…
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Asso…
To collect, preserve, and distribute annotated leukopak biospecimens and associated medical data to institutionally approved, investigator-directed biomedical …
The Epilepsy Learning Health System (ELHS) is a quality improvement and research network to improve outcomes for people with epilepsy. The ELHS is designed as …
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patie…