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Genetic Diseases, Inborn

Clinical trial condition

Genetic Diseases, Inborn

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

12,603 public trials 2,158 recruiting studies

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Genetic Diseases, Inborn trial results

Active, not recruiting

ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study

NCT05453461

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Facioscapulohumeral Muscular Dystrophy, Genetic Diseases, Inborn, +7 more
Locations: CHU de Nice Nice, Alpes Maritimes, France

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Active, not recruiting

A Single Arm, Phase Ib/II Trial of Single Agent Pacritinib in Patients With 1q21.3 Amplified Solid Tumors Enriching for Interleukin-1 Receptor-associated Kinase 1 Pathway Activation (PAIR)

NCT04520269

Conditions: Breast Cancer, Breast Diseases, Breast Neoplasms, +15 more
Locations: National University Hospital Singapore

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Active, not recruiting

Validation of Sleep Questionnaires in the Down Syndrome Population

NCT03771469

Conditions: Abnormalities, Multiple, Apnea, Chromosome Disorders, +16 more
Locations: Doernbecher Children's Hospital Portland, Oregon, United States

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Active, not recruiting

Genetic Modifiers of Cystic Fibrosis (CF) Liver Disease

NCT00804583

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cystic Fibrosis, Digestive System Diseases, +7 more
Locations: The University of North Carolina at Chapel Hill Chapel Hill, North Carolina, United States

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Active, not recruiting

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

NCT05972629

Conditions: Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +10 more
Locations: University of California San Francisco- Site Number : 8400007 San Francisco, California, United States

Children's Hospital IMD Clinic- Site Number : 8400015 Aurora, Colorado, United States

University of Florida-Genetics- Site Number : 8400010 Gainesville, Florida, United States

UHCMC- Site Number : 8400014 Cleveland, Ohio, United States

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Active, not recruiting

Gene Modifiers of Cystic Fibrosis Lung Disease

NCT00037765

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cystic Fibrosis, Digestive System Diseases, +5 more
Locations: Marsico Lung Institute Chapel Hill, North Carolina, United States

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Active, not recruiting

Developing a Management Approach for Patients With "Late-Onset" Pompe Disease

NCT03694561

Conditions: Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +15 more
Locations: Duke University Durham, North Carolina, United States

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Active, not recruiting

Metyrapone for Mild Autonomous Cortisol Secretion (MACS)

NCT06106295

Conditions: ACTH Syndrome, Ectopic, Adrenal Gland Diseases, Adrenal Hyperplasia, Congenital, +23 more
Locations: Mayo Clinic Minnesota Rochester, Minnesota, United States

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Active, not recruiting

Long-term, Extension Study of DS-5141b in Patients With Duchenne Muscular Dystrophy

NCT04433234

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Duchenne Muscular Dystrophy, Genetic Diseases, Inborn, +8 more
Locations: National Center of Neurology and Psychiatry Tokyo, Kodaira-Shi, Japan

Kobe University Hospital Hyōgo, Japan

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Active, not recruiting

Improving Care After Inherited Cancer Testing

NCT04763915

Conditions: Breast Cancer, Breast Diseases, Breast Neoplasms, +35 more
Locations: Vanderbilt-Ingram Cancer Center Nashville, Tennessee, United States

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Genetic Diseases, Inborn

Genetic Diseases, Inborn trial results

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