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Found 2288 studies with search of: "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
1 Completed
Has Results 		Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)
Conditions: Familial Cold Autoinflammatory Syndrome (FCAS);   Familial Cold Urticaria;   Muckle-Wells Syndrome (MWS);   Genetic Diseases, Inborn
Interventions: Drug: rilonacept 160 mg;   Drug: Placebo
2 Enrolling by invitation An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Hypercholesterolemia, Autosomal Dominant;   Hyperlipidemias;   Metabolic Diseases;   Hyperlipoproteinemia Type II;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Metabolic Disorder;   Congenital Abnormalities;   Hypercholesterolemia;   Hyperlipoproteinemias;   Dyslipidemias;   Lipid Metabolism Disorders
Intervention: Drug: mipomersen sodium
3 Completed High-Density Lipoprotein (HDL) Treatment Study
Conditions: Coronary Arteriosclerosis;   Hypoalphalipoproteinemias;   Genetic Diseases, Inborn
Intervention: Drug: Atorvastatin; Fenofibrate; Niacin
4 Completed Study to Assess the Safety and Efficacy of ISIS 301012 in Homozygous Familial Hypercholesterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Hypercholesterolemia, Autosomal Dominant;   Hyperlipidemias;   Metabolic Diseases;   Hyperlipoproteinemia Type II;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Metabolic Disorder;   Congenital Abnormalities;   Hypercholesterolemia;   Hyperlipoproteinemias;   Dyslipidemias;   Lipid Metabolism Disorders
Interventions: Drug: mipomersen sodium;   Drug: Placebo
5 Active, not recruiting Measure Liver Fat Content After ISIS 301012 Administration
Conditions: Lipid Metabolism, Inborn Errors;   Hyperlipidemias;   Metabolic Diseases;   Hypolipoproteinemia;   Hypolipoproteinemias;   Hypobetalipoproteinemias;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Congenital Abnormalities;   Metabolic Disorder;   Hypercholesterolemia;   Dyslipidemias;   Lipid Metabolism Disorders
Interventions: Drug: mipomersen sodium;   Drug: Placebo;   Drug: placebo
6 Active, not recruiting Open Label Extension of ISIS 301012 to Treat Familial Hypercholesterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Hypercholesterolemia, Autosomal Dominant;   Hyperlipidemias;   Metabolic Diseases;   Hyperlipoproteinemia Type II;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Metabolic Disorder;   Congenital Abnormalities;   Hypercholesterolemia;   Hyperlipoproteinemias;   Dyslipidemias;   Lipid Metabolism Disorders
Intervention: Drug: mipomersen sodium
7 Recruiting Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
8 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
9 Recruiting Review of Safety Using Rilonacept in Preventing Gout Exacerbations (RE-SURGE)
Condition: Gout
Interventions: Biological: Rilonacept;   Other: Placebo
10 Recruiting Study Utilizing Rilonacept in Gout Exacerbations
Condition: Acute Gout Flare
Interventions: Drug: placebo and indomethacin;   Drug: rilonacept and indomethacin;   Drug: rilonacept and placebo
11 Active, not recruiting PREventative Study Against URate-lowering Drug-induced Gout Exacerbations 1
Condition: Intercritical Gout
Intervention: Drug: rilonacept
12 Recruiting PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2)
Condition: Gout
Interventions: Drug: placebo;   Drug: rilonacept
13 Recruiting 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
14 Completed Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Condition: Gaucher Disease
Intervention: Procedure: Blood sample
15 Completed Study of VX-809 in Cystic Fibrosis Subjects With the ∆F508-CFTR Gene Mutation
Condition: Cystic Fibrosis
Interventions: Drug: VX-809;   Drug: VX-809 Placebo
16 Completed Fundus Changes in the Microphthalmy Eyes
Condition: Eye Diseases, Hereditary
Intervention:
17 Completed Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis
Conditions: Genetic Disorders;   Sickle Cell Anemia
Intervention: Procedure: Busulfan, Cyclophosphamide, BMD
18 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
19 Recruiting Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Conditions: Lymphocyte Homeostasis;   Genetic Diseases
Intervention:
20 Completed Study of Clinical and Molecular Manifestations of Genetic Disorders
Condition: Hereditary Diseases
Intervention:

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