1877 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Unknown  Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
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 Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
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 Not yet recruiting Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
Condition: Glycogen Storage Disease Type II-Pompe's Disease
Interventions: Drug: GZ402666;   Drug: alglucosidase alfa (GZ419829)
26 Recruiting TGA (Thrombin Generation Assay) and Prophylaxis in Haemophilia
Condition: Haemophilia A
Intervention: Other: Thrombin generation measurement.
27 Not yet recruiting Standardized Treatment of Pulmonary Exacerbations II
Condition: Pulmonary Cystic Fibrosis
Intervention: Drug: Standard of care IV antibiotic(s)
28 Recruiting Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study
Condition: Duchenne Muscular Dystrophy
Intervention: Other: Set of assessment tools
29 Recruiting Prospective Research Rare Kidney Stones (ProRKS)
Conditions: Hyperoxaluria;   Cystinuria;   Dent Disease;   Lowe Syndrome;   Adenine Phosphoribosyltransferase Deficiency/APRT
Intervention:
30 Recruiting Study To Evaluate Pf-04965842 In Subjects With Moderate To Severe Atopic Dermatitis
Condition: Atopic Dermatitis
Interventions: Drug: PF-04965842;   Drug: Placebo
31 Recruiting Evaluation Of The Pan-microbiome and Host Immune Response in CF
Condition: Cystic Fibrosis (CF)
Intervention: Procedure: Two-Bronchoscope Technique
32 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:
33 Recruiting Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach.
Conditions: Cutaneous Neurofibromas;   Neurofibromatosis Type 1;   Plexiform Neurofibromas
Intervention: Procedure: Skin Biopsy
34 Not yet recruiting World Bleeding Disorders Registry
Condition: Hemophilia A and B
Intervention:
35 Recruiting HLA-Identical Sibling Donor Bone Marrow Transplantation for Individuals With Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen
Condition: Sickle Cell Disease
Intervention: Drug: Fludarabine monophosphate
36 Recruiting Muscle Accrual and Function in Cystic Fibrosis-Impact of Glucose Intolerance
Condition: Cystic Fibrosis
Intervention:
37 Not yet recruiting Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA)
Condition: Periodic Fever
Intervention: Drug: Canakinumab
38 Not yet recruiting Study to Assess the Efficacy and Safety of Raxone in LHON Patients
Condition: Leber's Hereditary Optic Neuropathy (LHON)
Intervention: Drug: Idebenone
39 Recruiting Somatic Comorbidities in Psychiatric Patients
Conditions: Schizophrenia;   Major Depression Disorder;   Bipolar Affective Disorder
Intervention:
40 Recruiting Therapeutic Effect of Colla Corii Asini on Improving Anemia and Hemoglobin Composition in Pregnant Women With Thalassemia
Condition: Thalassemia
Intervention: Drug: Colla corii asini

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Indicates status has not been verified in more than two years