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4970 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
21 Completed Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis
Conditions: Familial Adenomatous Polyposis;   Duodenal Neoplasms;   Duodenal Polyps
Interventions: Drug: Celecoxib;   Drug: Ursodeoxycholic acid;   Drug: Placebo
22 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
23 Completed
Has Results
Safety Study of Ivacaftor in Subjects With Cystic Fibrosis
Condition: Cystic Fibrosis
Interventions: Drug: Ivacaftor 25 mg/75 mg;   Drug: Ivacaftor 75 mg/150 mg;   Drug: Ivacaftor 150 mg or 250 mg;   Drug: Placebo
24 Completed
Has Results
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older With the G551D Mutation
Condition: Cystic Fibrosis
Interventions: Drug: Ivacaftor;   Drug: Placebo
25 Completed Study Utilizing Rilonacept in Gout Exacerbations
Condition: Acute Gout Flare
Interventions: Drug: rilonacept;   Drug: indomethacin;   Other: placebo
26 Completed
Has Results
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 6 to 11 Years With the G551D Mutation
Condition: Cystic Fibrosis
Interventions: Drug: Ivacaftor;   Drug: Placebo
27 Completed Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy
Conditions: Polyneuropathies;   Amyloidosis;   Amyloid Neuropathies;   Amyloidosis, Familial;   Metabolic Diseases
Intervention:
28 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Muscular Dystrophy;   Congenital Muscular Dystrophy;   Fukutin-related Protein Gene;   Limb Girdle;   FKRP Gene;   Childhood Onset LGMD;   Adult Onset LGMD;   POMT1;   POMT2;   POMGnT1;   LARGE;   Alpha Dystroglycan;   Dystroglycanopathy;   Centronuclear;   Multiminicore;   Multicore;   Minicore;   Congenital Fiber Type Disproportion;   Myotubular;   Nemaline;   Congenital Myopathy;   Neuromuscular;   Rigid Spine;   Phenotype-Genotype Correlation;   Cough Assisted Device;   Neuromuscular Disease;   Respiratory Exacerbation;   Invasive Ventilation;   Chest Physiotherapy;   Congenital Myopathies;   Genetic Mutations;   Hypertrophic Cardiomyopathy;   Wheelchair Use;   Cataract;   Opthalmoplegia;   Ullrich Congenital Muscular Dystrophy;   Intermediate Collagen VI Myopathy;   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   MDC1A;   Merosin Deficient Congenital Muscular Dystrophy;   Congenital Muscular Dystrophy Undiagnosed;   Congenital Muscular Dystrophy Merosin Positive;   Walker Warburg Syndrome;   Muscle Eye Brain Disease;   Fukuyama;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   Laminopathy;   Lamin AC;   SEPN 1 Related Myopathies;   Bethlem Myopathy;   Dystroglycanopathies;   LGMD2K;   LGMD2I;   LGMD2L;   LGMD2N;   Actin Aggregation Myopathy;   Cap Disease;   Central Core Disease;   Centronuclear Myopathy;   Core Rod Myopathy;   Hyaline Body Myopathy;   Multiminicore Myopathy;   Myotubular Myopathy;   Nemaline Myopathy;   Tubular Aggregate Myopathy;   Zebra Body Disease Myopathy;   Congenital Myopathy Other;   Reducing Body Myopathy;   Sarcotubular Myopathy;   Spheroid Body Myopathy
Intervention:
29 Completed Atopic Dermatitis Research Network (ADRN) Influenza Vaccine Study
Condition: Dermatitis, Atopic
Interventions: Biological: Fluzone® Intradermal Vaccine;   Biological: Fluzone® (Intramuscular) vaccine
30 Recruiting Biomarker for Hurler Disease
Conditions: Mucopolysaccharidosis Type I;   MPS I;   Hurler-Scheie Syndrome;   Gargoylism, Hurler Syndrome
Intervention:
31 Completed PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2)
Condition: Gout
Interventions: Drug: placebo;   Drug: rilonacept
32 Recruiting Biomarker for Maroteaux-Lamy Disease
Conditions: Maroteaux-lamy Disease;   Lysosomal Storage Diseases
Intervention:
33 Recruiting Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients
Conditions: Retinitis Pigmentosa;   Retinal Degeneration
Intervention: Device: Device name: "Retina Implant model Alpha". Surgical implantation of medical device into eye
34 Available Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant
Conditions: Acute Lymphoblastic Leukemia;   Acute Myeloid Leukemia;   Chronic Myeloid Leukemia;   Myelodysplastic Syndrome;   Lymphomas;   Bone Marrow Failure;   Hemoglobinopathy;   Immune Deficiency;   Osteopetrosis;   Cytopenias;   White Blood Cell Abnormalities;   Red Blood Cell Abnormalities
Intervention: Biological: CD34+ enriched, T Cell Depleted donor stem cell product
35 Active, not recruiting Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
Condition: MPS IIIB (Sanfilippo B Syndrome)
Intervention:
36 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
37 Completed Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Condition: Gaucher Disease
Intervention: Procedure: Blood sample
38 Completed A Open-label Food Effect Study With SEN0014196 in Subjects With Huntington Disease
Condition: Huntington's Disease
Intervention: Drug: SEN0014196
39 Completed PREventative Study Against URate-lowering Drug-induced Gout Exacerbations 1
Condition: Intercritical Gout
Intervention: Drug: rilonacept
40 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:

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