Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting
6491 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
1 Enrolling by invitation Uterine Irrigation Method in Infertility Patients Who Require PGD
Conditions: Pre-Implantation Embryo Recovery;   Genetic Diseases, Inborn
Intervention: Device: Uterine Lavage Group
2 Recruiting Mutations in Genes Associated With Pentalogy of Cantrell
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
3 Enrolling by invitation Utilizing Free DNA in Embryo Culture for PGS
Conditions: Chromosome Abnormalities;   Genetic Diseases, Inborn;   Mutation
Intervention: Procedure: NGS reading for Media Free DNA
4 Completed High-Density Lipoprotein (HDL) Treatment Study
Conditions: Coronary Arteriosclerosis;   Hypoalphalipoproteinemias;   Genetic Diseases, Inborn
Intervention: Drug: Atorvastatin; Fenofibrate; Niacin
5 Recruiting Pilot Study of Cardiac MR in Patients With Muscular Dystrophy
Conditions: Muscular Dystrophies;   Cardiac Fibrosis;   Genetic Diseases, Inborn;   Musculoskeletal Diseases
Intervention:
6 Completed
Has Results
Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)
Conditions: Familial Cold Autoinflammatory Syndrome (FCAS);   Familial Cold Urticaria;   Muckle-Wells Syndrome (MWS);   Genetic Diseases, Inborn
Interventions: Drug: rilonacept 160 mg;   Drug: Placebo
7 Recruiting Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders
Condition: Hereditary Disease
Intervention:
8 Active, not recruiting A Social Media Approach to Improve Genetic Risk Communication Phase I
Condition: Hereditary Diseases
Interventions: Behavioral: Audiotaped Focus Group;   Behavioral: Demographic Questionnaire;   Behavioral: Audiotaped Interview;   Behavioral: WAMMI Inventory
9 Terminated Development of New Prenatal Diagnostic Tests From Maternal Blood
Condition: Hereditary Diseases
Intervention: Genetic: Blood samples
10 Completed Study of Clinical and Molecular Manifestations of Genetic Disorders
Condition: Hereditary Diseases
Intervention:
11 Completed Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population
Condition: Hereditary Diseases
Intervention: Other: Patients
12 Unknown  Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
13 Active, not recruiting Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
Conditions: Lysosomal Storage Diseases;   Inborn Errors of Metabolism
Intervention: Biological: ALD-601
14 Completed Evaluation and Treatment of Patients With Inherited Eye Diseases
Condition: Hereditary Eye Disease
Intervention:
15 Completed Screening for Studies on Inherited Eye Diseases
Condition: Hereditary Eye Disease
Intervention:
16 Recruiting North Carolina Newborn Exome Sequencing for Universal Screening
Conditions: Metabolism, Inborn Errors;   Hearing Loss;   Hereditary Disease
Interventions: Genetic: Well infant, whole exome sequencing;   Genetic: Diagnosed, whole exome sequencing
17 Recruiting Biomarker for Patients With a Cystic Fibrosis Disease
Conditions: Cystic Fibrosis;   Mucoviscidosis;   Hereditary Disease
Intervention:
18 Recruiting Biomarker for Hypophosphatasia Disease
Conditions: HEREDITARY DISEASES;   METABOLISM, INBORN ERRORS;   Hypophosphatasia
Intervention:
19 Recruiting Genomic Sequencing for Childhood Risk and Newborn Illness
Conditions: Hereditary Disease;   Genetic Predisposition to Disease
Interventions: Genetic: Genomic sequencing;   Other: Family history report
20 Active, not recruiting Saffron Supplementation in Stargardt's Disease
Conditions: Retinal Degeneration;   Genetic Disease;   Single-Gene Defects;   Macular Dystrophy
Interventions: Dietary Supplement: Saffron supplementation;   Other: placebo

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Study has passed its completion date and status has not been verified in more than two years.