1730 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Natural History of Noncirrhotic Portal Hypertension
Conditions: Cystic Fibrosis;   Immunologic Deficiency Syndrome;   Turner Syndrome;   Congenital Hepatic Fibrosis;   Idiopathic Non-Cirrhotic Portal Hypertension
Intervention:
22 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
23 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
24 Recruiting Biomarker for Mucolipidosis Disorder Type I, II, III or IV
Conditions: Mucolipidosis Type I;   Mucolipidosis Type II;   Mucolipidosis Type III;   Mucolipidosis Type IV;   Mucolipidosis
Intervention:
25 Recruiting Molecular-Guided Therapy for Childhood Cancer
Conditions: Neuroblastoma;   Medulloblastoma;   Glioma;   Ependymoma;   Choroid Plexus Neoplasms;   Craniopharyngioma;   Dysembryoplastic Neuroepithelial Tumor;   Meningioma;   Primitive Neuroectodermal Tumors (PNETs);   Germ Cell Tumors;   Rhabdomyosarcoma;   Non-rhabdomyosarcoma;   Ewings Sarcoma;   Osteosarcoma;   Wilms Tumor;   Renal Cell Carcinoma;   Malignant Rhabdoid Tumor;   Clear Cell Sarcoma;   Liver Tumors
Intervention: Device: Guided Therapy
26 Not yet recruiting Pancreatic Cancer Screening of High-Risk Residents of Arkansas
Conditions: Pancreatic Neoplasms;   Peutz-Jegher's Syndrome;   BRCA1 Gene Mutation;   BRCA2 Gene Mutation;   Ataxia Telangiectasia;   Familial Atypical Mole-Malignant Melanoma Syndrome;   Colorectal Neoplasms, Hereditary Nonpolyposis;   Hereditary Pancreatitis
Intervention: Other: Pancreatic Cancer Screening
27 Recruiting Functional Imaging and Reading Deficit in Children With NF1
Condition: Neurofibromatosis Type 1
Interventions: Other: Neuropsychological assessments;   Radiation: morphological and functional MRI (fMRI);   Genetic: genetic analysis
28 Recruiting Role of Genetic Factors in the Development of Lung Disease
Conditions: Cystic Fibrosis;   Sarcoidosis;   Tuberous Sclerosis;   Asthma
Intervention:
29 Recruiting Registry of Unexplained Cardiac Arrest
Conditions: Cardiac Arrest;   Long QT Syndrome;   Brugada Syndrome;   Catecholaminergi Polymorphic Ventricular Tachycardia;   Idiopathic VentricularFibrillation;   Early Repolarization Syndrome;   Arrhythmogenic Right Ventricular Cardiomyopathy
Intervention:
30 Recruiting Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch
Conditions: Glycogen Storage Disease Type IA;   Glycogen Storage Disease Type IB;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type 0
Intervention:
31 Recruiting Assessment of Algorithm-Based Hydroxyurea Dosing on Fetal Hemoglobin Response, Acute Complications, and Organ Function in People With Sickle Cell Disease
Condition: Sickle Cell Disease
Intervention: Drug: Hydroxyurea
32 Recruiting Investigating Mucinase Activity in Airway Disease
Conditions: Asthma;   Cystic Fibrosis
Intervention:
33 Recruiting Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD)
Condition: Duchenne Muscular Dystrophy
Intervention:
34 Not yet recruiting Allogenic Bone Marrow Derived Mesenchymal Stem Cell Therapy in Cases of Hemophilia
Condition: Hemophilia
Interventions: Biological: Cellular therapy;   Biological: cellular therapy
35 Unknown  Biodistribution of Neutrophile Proteases in the Sputum of Patients Affected by Cystic Fibrosis
Condition: Cystic Fibrosis
Intervention:
36 Recruiting Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome
Condition: Ehlers-Danlos Syndrome Hypermobility Type
Intervention: Device: short-sleeved vest CICATREX SED®)
37 Unknown  Subcapsular Orchiectomy in Men With Klinefelter Syndrome
Condition: Klinefelter Syndrome
Intervention: Procedure: Orchiectomy
38 Recruiting L-citrulline and Metformin in Duchenne's Muscular Dystrophy
Condition: Duchenne's Muscular Dystrophy (DMD)
Interventions: Drug: 750 mg metformin and 7.5 g L-citrulline daily p.o.;   Drug: Placebo
39 Not yet recruiting Exploratory Study of the Cutaneous Penetration of Biodegradable Polymeric Microparticles in Atopic Dermatitis
Condition: Atopic Dermatitis
Intervention: Drug: Biodegradable and biocompatible polymeric microparticles containing a fluorochrome applied to the skin followed by a skin biopsy
40 Recruiting Combination Deferasirox and Deferiprone for Severe Iron Overload in Thalassemia
Condition: Thalassemia Major With Severe Transfusional Iron Overload
Intervention: Drug: Deferasirox and deferiprone

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Indicates status has not been verified in more than two years