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Genetic Disorders clinical trials recruiting in the U.S.

43 studies for Genetic Disorders are recruiting participants at sites across the United States.

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.

Cities with the most studies

By state

Recently updated studies

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

RecruitingObservational studyHealthy volunteers welcome
1 Month – 100 Years · All sexes · Updated Oct 2, 2026 · NCT02450851

Genome Medical Sequencing for Gene Discovery

RecruitingObservational study
4 Weeks – 99 Years · All sexes · Updated Oct 2, 2026 · NCT01087320

Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

RecruitingObservational study
1 Month – 100 Years · All sexes · Updated Sep 24, 2026 · NCT00246857

Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia

RecruitingPhase 2/3
Ages 2 to 17 · All sexes · Updated Sep 24, 2026 · NCT07441876

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

RecruitingObservational studyHealthy volunteers welcome
2 Months – 115 Years · All sexes · Updated Sep 22, 2026 · NCT00001373

Evaluation of Patients With Immune Function Abnormalities

RecruitingObservational studyHealthy volunteers welcome
All ages · All sexes · Updated Sep 22, 2026 · NCT00128973

Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes

RecruitingObservational studyHealthy volunteers welcome
Ages 18 to 70 · All sexes · Updated Sep 22, 2026 · NCT00001405

A Long-Term Observational Study of Patients With Fucosidosis

RecruitingObservational study
All ages · All sexes · Updated Sep 17, 2026 · NCT07615400

Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study

RecruitingObservational studyHealthy volunteers welcome
All ages · All sexes · Updated Sep 1, 2026 · NCT06016946

Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)

RecruitingObservational study
7 Months – 15 Months · All sexes · Updated Aug 31, 2026 · NCT06805695

Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

RecruitingObservational study
Ages 18 and older · All sexes · Updated Aug 26, 2026 · NCT05587439

Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders

RecruitingObservational studyHealthy volunteers welcome
30 Days – 99 Years · All sexes · Updated Aug 24, 2026 · NCT01778504

Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial

RecruitingHealthy volunteers welcome
Ages 18 and older · All sexes · Updated Aug 24, 2026 · NCT05361811

Safety of Anumigilimab (CSL324) in Adults With Sickle Cell Disease (SCD)

RecruitingPhase 2
Ages 18 and older · All sexes · Updated Aug 5, 2026 · NCT07224360

Inherited Reproductive Disorders

RecruitingObservational study
6 Weeks – 120 Years · All sexes · Updated Jul 28, 2026 · NCT01500447

Prospective Clinical Assessment Study in Children With Hypochondroplasia

RecruitingObservational study
30 Months – 16 Years · All sexes · Updated Jul 16, 2026 · NCT06410976

Genetic and Metabolic Disease in Children

RecruitingObservational study
1 Day · All sexes · Updated Jul 2, 2026 · NCT02650622

Rett Syndrome Registry

RecruitingObservational study
Ages 0 to 99 · All sexes · Updated Jun 30, 2026 · NCT05432349

Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

RecruitingPhase 2
6 Months – 65 Years · All sexes · Updated Jun 22, 2026 · NCT03301038

ARPKD Database Study

RecruitingObservational study
Up to age 18 · All sexes · Updated Jun 15, 2026 · NCT01401998

A Study Investigating the Effectiveness and Safety of Garadacimab for Treating Patients With Hereditary Angioedema (HAE)

RecruitingObservational study
Ages 12 and older · All sexes · Updated Jun 3, 2026 · NCT07001280

UW Undiagnosed Genetic Diseases Program

RecruitingObservational study
Up to age 100 · All sexes · Updated May 29, 2026 · NCT04586075

Genetic Disorders of Obesity Program Database

RecruitingObservational study
All ages · All sexes · Updated May 12, 2026 · NCT05747976

From ClinicalTrials.gov, data retrieved Oct 5, 2026. Each study sets its own eligibility; the study team decides who can join.