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102 recruiting studies matching your filters

Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders

Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and fun…

Baker Gordon SyndromeRare Neurodevelopmental ConditionsRare Neurogenetic Conditions+6 more

Estimated

~$10 – $750

University of Missouri-ColumbiaNCT07329257

Phase 2

The Effect of rs7903146 Genotype on Islet GLP-1 Production in Humans

The investigators recently demonstrated that blockade of Glucagon-Like Peptide-1's (GLP-1) receptor (GLP1R) results in changes in islet function without change…

Genetic PredispositionType2diabetes

Estimated

~$10 – $6,250

Mayo ClinicNCT06972407

Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications

Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disor…

Lipodystrophy (Genetic or Acquired, Non HIV)

Estimated

~$10 – $750

University of MichiganNCT03087253

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

A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

Mitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic Paraplegia+4 more

Estimated

~$10 – $750

University of California, San DiegoNCT05848271

Observational

A Randomized Trial of Chatbot for Prenatal Genetic Counseling

During pregnancy, all pregnant people are offered tests to look for genetic conditions in the baby. However, there isn't a standard way of giving this informat…

Genetic Counseling

Estimated

~$10 – $6,250

Women and Infants Hospital of Rhode IslandNCT07077707