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Genetic Diseases, Inborn

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Genetic Diseases, Inborn

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

12,553 public trials 2,147 recruiting studies

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Genetic Diseases, Inborn trial results

Recruiting

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study

NCT05677880

Conditions: Arterial Occlusive Diseases, Arteriosclerosis, Brain Diseases, +29 more
Locations: University of California Los Angeles, California, United States

University of California San Francisco, California, United States

University of Colorado Denver, Colorado, United States

Georgia State University Research Foundation Atlanta, Georgia, United States

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Recruiting

Evaluation of Outcome Metrics in Alexander Disease

NCT02714764

Conditions: Alexander Disease, Brain Diseases, Brain Diseases, Metabolic, +13 more
Locations: Children's Hospital of Philadelphia Philadelphia, Pennsylvania, United States

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Recruiting

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

NCT04404530

Conditions: Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +9 more
Locations: Emory University Hospital Georgia Clinical Research Center Atlanta, Georgia, United States

The Emory Clinic Atlanta, Georgia, United States

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Recruiting

Implementation of Population Cancer Genetic Services in Federally Qualified Health Centers (FQHC)

NCT05664867

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Hereditary Cancer Syndrome, +2 more
Locations: University of Illinois Cancer Center Chicago, Illinois, United States

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Recruiting

Institutional Registry of Rare Diseases

NCT06573723

Conditions: Abnormalities, Multiple, Adrenal Gland Diseases, Adrenal Hyperplasia, Congenital, +144 more
Locations: Hospital Italiano de Buenos Aires Buenos Aires, Argentina

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Recruiting

Effects of Chronic Creatine and Beta-Hydroxy-Beta-Methylbutyrate Supplementation on Oxidative Stress, Inflammation, Muscle Strength, and Body Composition in Individuals With Down Syndrome

NCT07213063

Conditions: Abnormalities, Multiple, Chromosome Disorders, Congenital Abnormalities, +9 more
Locations: Universidad de Burgos Burgos, Spain

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Regional Monitoring of CF Lung Disease

NCT06339593

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cystic Fibrosis, Digestive System Diseases, +5 more
Locations: Cincinnati Children's Hospital Cincinnati, Ohio, United States

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Beta-cell Response to Incretin Hormones in Cystic Fibrosis

NCT01851694

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cystic Fibrosis, Diabetes Mellitus, +12 more
Locations: Children's Hospital of Philadelphia and University of Pennsylvania Philadelphia, Pennsylvania, United States

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Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC

NCT04528355

Conditions: Adrenal Gland Diseases, Adrenal Insufficiency, Adrenoleukodystrophy, +119 more
Locations: UPMC Children's Hospital of Pittsburgh Pittsburgh, Pennsylvania, United States

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Recruiting

Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)

NCT07313618

Conditions: Albinism, Albinism, Oculocutaneous, Amino Acid Metabolism, Inborn Errors, +13 more
Locations: West China Hospital, Sichuan University Chengdu, Sichuan, China

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Genetic Diseases, Inborn

Genetic Diseases, Inborn trial results

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