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Genetic Disorders clinical trials in Boston, MA

6 studies for Genetic Disorders are looking for participants at sites in and around Boston (within about 30 miles). Open a study to see who can join and how to contact the study team.

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

RecruitingObservational studyHealthy volunteers welcome
  • Massachusetts General Hospital, Boston
  • Boston Children s Hospital, Boston
  • Brigham and Women's Hospital, Boston
  • and 1 more
1 Month – 100 Years · All sexes · Updated Sep 18, 2026 · NCT02450851

Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

RecruitingObservational study
  • Brigham and Women's Hospital, Boston
  • Dana-Farber Cancer Institute, Boston
Ages 18 and older · All sexes · Updated Aug 26, 2026 · NCT05587439

Rett Syndrome Registry

RecruitingObservational study
  • Boston Children's Hospital, Boston
Ages 0 to 99 · All sexes · Updated Jun 30, 2026 · NCT05432349

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

RecruitingObservational study
  • Boston Children's Hospital, Boston
1 Month – 30 Years · All sexes · Updated Mar 18, 2026 · NCT05354622

PKP2-ACM Natural History Study

RecruitingObservational study
  • Boston Children's Hospital, Boston
Ages 12 and older · All sexes · Updated Feb 27, 2026 · NCT06644742

Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

RecruitingObservational study
  • Boston Children's Hospital, Boston
All ages · All sexes · Updated Feb 17, 2026 · NCT05528744

About Genetic Disorders

A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn about the types and how they are detected.

More about Genetic Disorders on MedlinePlus

Genetic Disorders trials in other cities

Other studies in Boston

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.