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Genetic Disorders clinical trials recruiting in the U.S.

45 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

Genome Medical Sequencing for Gene Discovery

RecruitingObservational study
4 Weeks – 99 Years · All sexes · Updated Sep 28, 2026 · NCT01087320

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

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

Evaluation of Patients With Immune Function Abnormalities

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

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

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

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 Sep 18, 2026 · NCT02450851

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

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

Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders

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

An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency

RecruitingPhase 3
24 Hours – 7 Months · Men · Updated Aug 12, 2026 · NCT06255782

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

From ClinicalTrials.gov, data retrieved Sep 29, 2026. Each study sets its own eligibility; the study team decides who can join.