Skip to main content
OpenTrials

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
Refine in advanced search Browse all conditions

Genetic Diseases, Inborn trial results

Completed

Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)

NCT04035811

Conditions
Achondroplasia, Bone Diseases, Bone Diseases, Developmental, +16 more
Locations
  • Benioff Children's Hospital Oakland Oakland, California, United States
  • Children's Hospital Colorado Aurora, Colorado, United States
  • Nemours Alfred I. Dupont Hospital for Children Wilmington, Delaware, United States
  • Johns Hopkins School of Medicine Baltimore, Maryland, United States
View all 32 locations
View Trial Details
Completed

Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia

NCT03970278

Conditions
Carbohydrate Metabolism, Inborn Errors, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, +9 more
Locations
  • UCONN Health Farmington, Connecticut, United States
  • Michigan Medicine University of Michigan Ann Arbor, Michigan, United States
  • University of Texas Health Science Center at Houston Houston, Texas, United States
  • Montreal Children Hospital, McGill University Health Centre Montreal, Quebec, Canada
View Trial Details
Completed

A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia

NCT06164951

Conditions
Achondroplasia, Bone Diseases, Bone Diseases, Developmental, +16 more
Locations
  • QED Investigative Site San Francisco, California, United States
  • QED Investigative Site Aurora, Colorado, United States
  • QED Investigative Site Baltimore, Maryland, United States
  • QED Investigative Site Columbia, Missouri, United States
View all 27 locations
View Trial Details
Completed

Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

NCT03179631

Conditions
Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, +8 more
Locations
  • Phoenix Childrens Hospital Phoenix, Arizona, United States
  • Children's Hospital of Los Angeles Los Angeles, California, United States
  • University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland Oakland, California, United States
  • Stanford University Medical Center Palo Alto, California, United States
View all 64 locations
View Trial Details
Completed

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

NCT05161169

Conditions
Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Disease Susceptibility, +5 more
Locations
  • University of Alabama at Birmingham Birmingham, Alabama, United States
  • Boston Children's Hospital Boston, Massachusetts, United States
  • Beaumont - Corewell Health East Royal Oak, Michigan, United States
  • Icahn School of Medicine at Mount Sinai New York, United States
View Trial Details
Completed

REALITY LHON Registry

NCT03295071

Conditions
Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cranial Nerve Diseases, Eye Diseases, +13 more
Locations
  • Doheny Eye Center UCLA Pasadena Pasadena, California, United States
  • Emory University Hospital Atlanta, Georgia, United States
  • Massachusetts Eye and Ear Infirmary Boston, Massachusetts, United States
  • Wills Eye Institute Philadelphia, Pennsylvania, United States
View Trial Details
Completed

RESCUE and REVERSE Long-term Follow-up

NCT03406104

Conditions
Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cranial Nerve Diseases, Eye Diseases, +13 more
Locations
  • Doheny Eye Center UCLA Pasadena, California, United States
  • Emory University Hospital Atlanta, Georgia, United States
  • Wills Eye Institute Philadelphia, Pennsylvania, United States
  • CHNO Les Quinze Vingts Paris, France
View Trial Details
Completed

Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)

NCT02652780

Conditions
Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cranial Nerve Diseases, Eye Diseases, +13 more
Locations
  • Doheny Eye Center, University of California, Los Angeles Los Angeles, California, United States
  • Department of Ophthalmology, Emory University School of Medicine Atlanta, Georgia, United States
  • Neuro Ophthalmologic Associates, Wills Eye Hospital, Thomas Jefferson University Philadelphia, Pennsylvania, United States
  • Centre National Hospitalier d'Ophtalmologie des Quinze-Vingt Paris, France
View Trial Details
Completed

Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation

NCT02652767

Conditions
Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cranial Nerve Diseases, Eye Diseases, +13 more
Locations
  • Doheny Eye Center, University of California, Los Angeles Los Angeles, California, United States
  • Department of Ophthalmology, Emory University School of Medicine Atlanta, Georgia, United States
  • Neuro Ophthalmologic Associates, Wills Eye Hospital, Thomas Jefferson University Philadelphia, Pennsylvania, United States
  • Centre National Hospitalier d'Ophtalmologie des Quinze-VingtCentre National Hospitalier d'Ophtalmologie des Quinze-Vingt Paris, France
View Trial Details

Related conditions