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Clinical trial condition

Genetic Diseases, Inborn

Explore clinical trials studying Genetic Diseases, Inborn. Study availability and eligibility vary by location and protocol.

449 public trials 107 recruiting studies
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Genetic Diseases, Inborn trial results

Recruiting

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

NCT00246857

Conditions
Autoimmune Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, +4 more
Locations
  • National Institutes of Health Clinical Center Bethesda, Maryland, United States
  • University of Michigan Ann Arbor, Michigan, United States
  • Ankara Medical University Ankara, Turkey (Türkiye)
  • Gazi University Ankara, Turkey (Türkiye)
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Recruiting

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

NCT02450851

Conditions
Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Genetic Disease, +5 more
Locations
  • University of Alabama at Birmingham Birmingham, Alabama, United States
  • HudsonAlpha Institute for Biotechnology, Inc. Huntsville, Alabama, United States
  • University of California, Los Angeles Los Angeles, California, United States
  • University of California, Irvine Medical Center Orange, California, United States
View all 33 locations
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Recruiting

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

NCT00001373

Conditions
ALPK1, Autoinflammation, Body Temperature Changes, +26 more
Locations
  • Childrens National Medical Center Washington D.C., District of Columbia, United States
  • Johns Hopkins University Baltimore, Maryland, United States
  • Walter Reed National Medical Center Bethesda, Maryland, United States
  • National Institutes of Health Clinical Center Bethesda, Maryland, United States
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Recruiting

Inherited Reproductive Disorders

NCT01500447

Conditions
Amenorrhea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +20 more
Locations
  • National Institutes of Health Clinical Center Bethesda, Maryland, United States
  • NIEHS Clinical Research Unit (CRU) Research Triangle Park, North Carolina, United States
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Recruiting

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

NCT07441876

Conditions
Achondroplasia, Bone Diseases, Bone Diseases, Developmental, +5 more
Locations
  • UCSF Benioff Children's Hospital Oakland Oakland, California, United States
  • Nemours Children's Health Wilmington, Delaware, United States
  • Ann & Robert H. Lurie Children's Hospital of Chicago Chicago, Illinois, United States
  • Johns Hopkins Medicine Baltimore, Maryland, United States
View all 19 locations
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Recruiting

A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)

NCT07431112

Conditions
Alpha 1 Antitrypsin Deficiency, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +11 more
Locations
  • Clinical Study Center Melbourne, Australia
  • Clinical Study Center 1 Tbilisi, Georgia
  • Clinical Study Center 2 Tbilisi, Georgia
  • Clinical Study Center Cambridge, United Kingdom
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Recruiting

Prospective Clinical Assessment Study in Children With Hypochondroplasia

NCT06410976

Conditions
Bone Diseases, Bone Diseases, Developmental, Carbohydrate Metabolism, Inborn Errors, +16 more
Locations
  • UCSF Benioff Children's Hospital Oakland, California, United States
  • Childrens Hospital Colorado Aurora, Colorado, United States
  • Children's National Hospital Washington D.C., District of Columbia, United States
  • Johns Hopkins School of Medicine Baltimore, Maryland, United States
View all 25 locations
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Recruiting

A 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)

NCT07555483

Conditions
Alpha 1 Antitrypsin Deficiency, Chronic Disease, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +14 more
Locations
  • GC2501 Study Site 106 Birmingham, Alabama, United States
  • GC2501 Study Site 102 Phoenix, Arizona, United States
  • GC2501 Study Site 107 Scottsdale, Arizona, United States
  • GC2501 Study Site 100 Los Angelas, California, United States
View all 22 locations
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