1630 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
22 Recruiting Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell Transplants
Conditions: Malignancy;   Metabolic Disease;   Genetic Disorder
Intervention: Biological: Thymoglobulin (rATG)
23 Recruiting North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Conditions: Mitochondrial Disorders;   Mitochondrial Genetic Disorders;   Mitochondrial Diseases;   Disorder of Mitochondrial Respiratory Chain Complexes;   Deletion and Duplication of Mitochondrial DNA
Intervention:
24 Recruiting Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Condition: Genetic Diseases
Intervention:
25 Recruiting Personalized Genomic Research: Congenital Malformations
Conditions: Genetics;   Genetic Disease;   Genetic Linkage;   Birth Defects;   Genetic Variation
Intervention:
26 Recruiting Inherited Reproductive Disorders
Conditions: Endocrine Diseases;   Genetic Disorder;   Infertility;   Hypogonadism;   Amenorrhea
Intervention:
27 Recruiting Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
Condition: Genetic Disorder
Intervention:
28 Unknown  Reproducibility of the Array-Based Comparative Genomic Hybridization (aCGH) System Using Whole Blood Samples
Condition: Genetic Disorders
Intervention:
29 Recruiting Brain-Derived Neurotrophic Factor in Obesity and Brain Function
Conditions: Obesity;   Genetic Disorder;   Mental Retardation;   Developmental Delay
Intervention:
30 Recruiting Genetic Analysis of Hereditary Disorders of Hearing and Balance
Conditions: Sensorineural Hearing Loss;   Hearing Disorder;   Vestibular Disease
Intervention:
31 Recruiting Cord Blood Transplantation in Severe Aplastic Anemia
Conditions: Hereditary Diseases;   Acquired Aplastic Anemia;   Relapse;   Absence of an HLA Identical Donor
Intervention: Procedure: Cord Blood Transplantation
32 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
33 Recruiting Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Conditions: Lymphocyte Homeostasis;   Genetic Diseases
Intervention:
34 Recruiting Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome
Conditions: Genetic Disorder;   Noonan Syndrome
Intervention: Drug: somatropin
35 Recruiting Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
Intervention:
36 Recruiting Saffron Supplementation in Stargardt's Disease
Conditions: Retinal Degeneration;   Genetic Disease;   Single-Gene Defects;   Macular Dystrophy
Interventions: Dietary Supplement: Saffron supplementation;   Other: placebo
37 Recruiting EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Conditions: Methylmalonic Aciduria and Homocystinuria,Cblc Type;   Genetic Disease;   Retinopathy
Interventions: Drug: Epi-743;   Other: Placebo supplementation
38 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
39 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
40 Recruiting Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
Condition: Williams Beuren Syndrome
Interventions: Drug: Minoxidil;   Drug: Placebo

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Indicates status has not been verified in more than two years