1743 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 Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
23 Recruiting Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell Transplants
Conditions: Malignancy;   Metabolic Disease;   Genetic Disorder
Intervention: Biological: Thymoglobulin (rATG)
24 Recruiting Prenatal Microarray Follow-Up Study
Condition: Genetic Diseases
Intervention: Other: 3-year follow-up
25 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:
26 Not yet recruiting The NIH Exercise Therapy for Advanced Lung Disease Trials: Response and Adaptation to Aerobic Exercise in Patients With Interstitial Lung Disease
Conditions: Interstitial Lung Disease;   Idiopathic Pulmonary Fibrosis;   Interstitial Pneumonitis;   Desquamative Interstitial Pneumonia
Intervention: Other: Aerobic Exercise Training
27 Recruiting Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Condition: Genetic Diseases
Intervention:
28 Recruiting Personalized Genomic Research
Conditions: Genetics;   Genetic Disease;   Genetic Linkage;   Birth Defects;   Genetic Variation
Intervention:
29 Recruiting Inherited Reproductive Disorders
Conditions: Genetic Disorder;   Infertility;   Hypogonadism;   Amenorrhea
Intervention:
30 Recruiting Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
Condition: Genetic Disorder
Intervention:
31 Unknown  Reproducibility of the Array-Based Comparative Genomic Hybridization (aCGH) System Using Whole Blood Samples
Condition: Genetic Disorders
Intervention:
32 Recruiting Genetic Analysis of Hereditary Disorders of Hearing and Balance
Conditions: Sensorineural Hearing Loss;   Hearing Disorder;   Vestibular Disease
Intervention:
33 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
34 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
35 Recruiting Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Condition: Primary Immune Deficiency
Intervention:
36 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
37 Recruiting Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
Intervention:
38 Recruiting Doxycycline Treatment in Mild Graves' Orbitopathy
Conditions: Graves Ophthalmopathy;   Graves Disease;   Eye Diseases;   Thyroid Diseases;   Endocrine System Diseases;   Eye Diseases, Hereditary;   Hyperthyroidism;   Autoimmune Diseases;   Immune System Diseases
Interventions: Drug: Doxycycline;   Drug: placebo
39 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
40 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:

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Indicates status has not been verified in more than two years