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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.

456 public trials 107 recruiting studies

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Genetic Diseases, Inborn trial results

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Early Detection of Familial Hypercholesterolemia in Children

NCT04370899

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Familial Hypercholesterolemia, +12 more
Locations: Hospital Universitari Sant Joan de Reus Reus, Tarragona, Spain

Hospital Universitari Sant Joan Reus, Tarragona, Spain

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Recruiting

Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria

NCT06337864

Conditions: Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +10 more
Locations: Center for Inherited Metabolic Diseases Copenhagen, Denmark

Copenhagen University Hospital, Rigshospitalet Copenhagen, Denmark

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Recruiting

Natural History Study of Patients with HPDL Mutations

NCT05848271

Conditions: Brain Diseases, Brain Diseases, Metabolic, Central Nervous System Diseases, +31 more
Locations: Eun Hae Lee San Diego, California, United States

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Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART

NCT06898307

Conditions: Arrhythmias, Cardiac, Cardiac Arrhythmias, Cardiac Disease, +9 more
Locations: Department of Cardiology, University Hospital of Ferrara Ferrara, Italy

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Recruiting

Prospective Cohort Study of Neurogenetic Diseases

NCT06048523

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Disease, Genetic Diseases, Inborn, +1 more
Locations: Chu de Bordeaux Bordeaux, France

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4D-310 in Adults With Fabry Disease and Cardiac Involvement

NCT05629559

Conditions: Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +19 more
Locations: Royal Melbourne Hospital Melbourne, Australia

Royal Perth Hospital Perth, Australia

Westmead Hospital Westmead, Australia

Taipei Veterans General Hospital Taipei, Taiwan

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Association Between Genetic Polymorphisms and Type 2 Asthma in Children

NCT06840717

Conditions: Asthma in Children, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, +6 more
Locations: Guangzhou institute of respiratory disease Guangzhou, Guangdong, China

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Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness

NCT04905537

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Death, Female Urogenital Diseases and Pregnancy Complications, +10 more
Locations: Children's Hospital of Fudan University Shanghai, Shanghai Municipality, China

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N-Care Project: Enhancing Asian-Pacific Collaboration

NCT06821386

Conditions: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Critical Care, Intensive Care, Genetic Disease, +3 more
Locations: National Taiwan University Hospital Taipei, Taiwan

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Recruiting

Characteristics of Hypophosphatasia in Adult Patients in Rheumatology and Their Value in Developing an Algorithm to HPP-diagnosis - the COHIR Multi-center Study

NCT06574282

Conditions: Bone Diseases, Bone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +11 more
Locations: Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn Bonn, North Rhine-Westphali, Germany

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Genetic Diseases, Inborn

Genetic Diseases, Inborn trial results

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