Inborn
Showing 1 - 25 of 732
Non Infectious Presentation of Inborn Errors Of Immunity
Not yet recruiting
- Inborn Errors of Immunity
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Sohag, EgyptSohag University Hospital
May 21, 2023
Genetic and Immunologic Characterization of IEI
Completed
- Immunity Disorders
- Inborn Errors of Immunity
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Trieste, ItalyIRCCS materno infantile Burlo Garofolo
Apr 6, 2023
Inborn Errors of Cholesterol Synthesis and Related Disorders
Recruiting
- Lysosomal Storage Disease
- Cholesterol Metabolism
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Bethesda, MarylandNational Institutes of Health Clinical Center
Dec 28, 2022
Transition, Inborn Errors of Metabolism Trial in Austria, Switzerland (Behavioral)
Not yet recruiting
- Transition
- Inborn Errors of Metabolism
- Behavioral
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Vienna, Austria
- +7 more
Nov 9, 2022
Intestinal Microbiota in Inborn Errors of Metabolism (IEM)
Recruiting
- Inborn Errors of Metabolism
- +3 more
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Zürich, SwitzerlandUniversity Children's Hospital
Apr 8, 2022
Metabolism, Infection, and Immunity in Inborn Errors of
Recruiting
- Oxidative Phosphorylation Deficiencies
- +3 more
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Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 18, 2023
Orphan Drugs for Inherited Metabolic Diseases
Recruiting
- Inborn Errors of Metabolism
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Lausanne, Vaud, SwitzerlandLausanne University Hospital
Apr 19, 2023
Cerebral Palsy, Genetic Disease, Developmental Delay Trial in Ljubljana (NGS)
Completed
- Cerebral Palsy
- +3 more
- NGS
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Ljubljana, SloveniaUniversity Children's Hospital, University Medical Centre Ljublj
Nov 1, 2022
Lymphoproliferative Disorders, Autoimmune Lymphoproliferative, Immune System Diseases Trial run by the NCI (drug, radiation,
Recruiting
- Lymphoproliferative Disorders
- +4 more
- Busulfan test dose
- +8 more
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Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 23, 2023
Newborn Genomics Programme
Not yet recruiting
- Genetic Disease
- Newborn Morbidity
- Genetic testing
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Auckland, New ZealandAuckland City Hospital
Oct 10, 2023
Inherited Diseases, Caregiving, and Social Networks
Completed
- Undiagnosed Disease
- +4 more
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Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 6, 2023
Large-Scale Metabolomic Profiling for Diagnosis of Inborn Errors
Enrolling by invitation
- Congenital Disorders of Glycosylation
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Rochester, MinnesotaMayo Clinic in Rochester
Jan 8, 2022
Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and
Recruiting
- Granuloma
- +4 more
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Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 25, 2023
Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Active, not recruiting
- Urea Cycle Disorder
- Lysinuric Protein Intolerance
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Istanbul, TurkeyIstanbul University-Cerrahpasa
Jan 23, 2023
Organ Transplant, Cancer, Inborn Errors of Metabolism Trial (A sphygmanometer, a digital thermometer, a pulse oximeter and a
Not yet recruiting
- Organ Transplant
- +5 more
- A sphygmanometer, a digital thermometer, a pulse oximeter and a peak flow meter will be given to participants to use during their telemedicine consultations with health care providers.
- (no location specified)
Feb 8, 2023
Pre-implantation Genetic Testing for Monogenic Disease: Single
Completed
- Genetic Disease
- Aneuploidy
- Pre-implantation genetic testing
- (no location specified)
Jun 29, 2023
Cholesterol, HDL, Lipid Metabolism, Inborn Errors, Tangier Disease Trial in Philadelphia (3H-cholesterol bound to albumin)
Suspended
- Cholesterol, HDL
- +4 more
- 3H-cholesterol bound to albumin
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Philadelphia, PennsylvaniaUniversity of Pennsylvania
Jul 14, 2022
Utilizing Augmented Artificial Intelligence for
Completed
- Inborn Errors of Metabolism
- Plasma amino acid assay
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Karachi, Sindh, PakistanAga Khan University Hospital
Jun 29, 2022
Biomarkers for Inborn Errors of Metabolism
Completed
- Inborn Errors of Metabolism
- Biomarker
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Tirana, Albania
- +12 more
Mar 23, 2022
Genetic Disease, Nervous System Diseases Trial (Patient cohort, Control cohort)
Not yet recruiting
- Genetic Disease
- Nervous System Diseases
- Patient cohort
- Control cohort
- (no location specified)
Sep 15, 2023
Structural Chromosome Rearrangements and Brain Disorders
Enrolling by invitation
- Rare Diseases
- +2 more
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Stockholm, SwedenAnna Lindstrand
Oct 2, 2023
Healthy Volunteer, Muscular Dystrophies, Muscular Disorders, Atrophic Trial in Madison (EDG-5506 Tablet, Radiolabeled EDG-5506
Recruiting
- Healthy Volunteer
- +7 more
- EDG-5506 Tablet
- +2 more
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Madison, WisconsinLabcorp Clinical Research Unit, Inc.
Feb 7, 2023
Obesity, Childhood, Genetic Disease Trial in Houston
Recruiting
- Obesity, Childhood
- Genetic Disease
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Houston, TexasBaylor College of Medicine
Feb 27, 2023
Genetic Study of Obstructive Azoospermia
Recruiting
- Genetic Disease
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Guangzhou, Guangdong, China107 Yan Jiang Xi Road
Nov 20, 2022