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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
- Washington, DC12 studies
- Philadelphia, PA9 studies
- Houston, TX8 studies
- Los Angeles, CA7 studies
- Durham, NC7 studies
- Mountain View, CA6 studies
- New York City, NY6 studies
- Boston, MA6 studies
- Aurora, CO5 studies
- Chicago, IL5 studies
- San Diego, CA5 studies
- Miami, FL5 studies
- Dallas, TX4 studies
- Baltimore, MD4 studies
- Cincinnati, OH4 studies
- Columbus, OH4 studies
- Atlanta, GA4 studies
- Nashville, TN4 studies
- Oakland, CA3 studies
- Orange, CA3 studies
- Ann Arbor, MI3 studies
- Birmingham, AL3 studies
By state
- Alabama3 studies
- California18 studies
- Colorado7 studies
- District of Columbia3 studies
- Florida7 studies
- Georgia4 studies
- Illinois6 studies
- Maryland14 studies
- Massachusetts6 studies
- Michigan3 studies
- Minnesota5 studies
- Missouri3 studies
- New York8 studies
- North Carolina9 studies
- Ohio7 studies
- Pennsylvania11 studies
- South Carolina3 studies
- Tennessee5 studies
- Texas11 studies
- Wisconsin3 studies
Recently updated studies
Genome Medical Sequencing for Gene Discovery
RecruitingObservational study
4 Weeks – 99 Years · All sexes · Updated Sep 28, 2026 · NCT01087320Study 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 · NCT07441876Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
RecruitingObservational study
1 Month – 100 Years · All sexes · Updated Sep 24, 2026 · NCT00246857Evaluation of Patients With Immune Function Abnormalities
RecruitingObservational studyHealthy volunteers welcome
All ages · All sexes · Updated Sep 22, 2026 · NCT00128973Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
RecruitingObservational studyHealthy volunteers welcome
2 Months – 115 Years · All sexes · Updated Sep 22, 2026 · NCT00001373Recruitment 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 · NCT00001405Clinical 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 · NCT02450851A Long-Term Observational Study of Patients With Fucosidosis
RecruitingObservational study
All ages · All sexes · Updated Sep 17, 2026 · NCT07615400Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
RecruitingObservational studyHealthy volunteers welcome
All ages · All sexes · Updated Sep 1, 2026 · NCT06016946Long-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 · NCT06805695RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.
RecruitingObservational study
Ages 2 and older · All sexes · Updated Aug 26, 2026 · NCT07787975Investigating Hereditary Risk In Thoracic Cancers (INHERIT)
RecruitingObservational study
Ages 18 and older · All sexes · Updated Aug 26, 2026 · NCT05587439Acceptance 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 · NCT05361811Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
RecruitingObservational studyHealthy volunteers welcome
30 Days – 99 Years · All sexes · Updated Aug 24, 2026 · NCT01778504An 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 · NCT06255782A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)
RecruitingPhase 3
Ages 18 to 80 · All sexes · Updated Aug 11, 2026 · NCT07555483Safety of Anumigilimab (CSL324) in Adults With Sickle Cell Disease (SCD)
RecruitingPhase 2
Ages 18 and older · All sexes · Updated Aug 5, 2026 · NCT07224360Inherited Reproductive Disorders
RecruitingObservational study
6 Weeks – 120 Years · All sexes · Updated Jul 28, 2026 · NCT01500447Prospective Clinical Assessment Study in Children With Hypochondroplasia
RecruitingObservational study
30 Months – 16 Years · All sexes · Updated Jul 16, 2026 · NCT06410976Genetic and Metabolic Disease in Children
RecruitingObservational study
1 Day · All sexes · Updated Jul 2, 2026 · NCT02650622Rett Syndrome Registry
RecruitingObservational study
Ages 0 to 99 · All sexes · Updated Jun 30, 2026 · NCT05432349Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
RecruitingPhase 2
6 Months – 65 Years · All sexes · Updated Jun 22, 2026 · NCT03301038ARPKD Database Study
RecruitingObservational study
Up to age 18 · All sexes · Updated Jun 15, 2026 · NCT01401998A 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 · NCT07001280UW Undiagnosed Genetic Diseases Program
RecruitingObservational study
Up to age 100 · All sexes · Updated May 29, 2026 · NCT04586075From ClinicalTrials.gov, data retrieved Sep 29, 2026. Each study sets its own eligibility; the study team decides who can join.