Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
4946 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
Hide Display Options

Display Options

Study Details
Participant Details
Identifiers
Dates
Rank Status Study
1 Completed An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) 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
2 Completed
Has Results
Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) 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;   Drug: Placebo
3 Recruiting Natural History Study of Children With Metachromatic Leukodystrophy
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Brain Diseases, Metabolic;   Brain Diseases;   Central Nervous System Diseases;   Nervous System Diseases;   Sulfatidosis;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System;   Leukoencephalopathies;   Demyelinating Diseases;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Lipidoses;   Lipid Metabolism, Inborn Errors;   Lysosomal Storage Diseases;   Metabolic Diseases;   Lipid Metabolism Disorders
Intervention: Other: Natural History Study of Children With Metachromatic Leukodystrophy
4 Completed High-Density Lipoprotein (HDL) Treatment Study
Conditions: Coronary Arteriosclerosis;   Hypoalphalipoproteinemias;   Genetic Diseases, Inborn
Intervention: Drug: Atorvastatin; Fenofibrate; Niacin
5 Enrolling by invitation Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy
Conditions: Muscular Dystrophy, Duchenne;   Muscular Dystrophies;   Muscular Disorders, Atrophic;   Muscular Diseases;   Musculoskeletal Diseases;   Neuromuscular Diseases;   Nervous System Diseases;   Genetic Diseases, X-Linked;   Genetic Diseases, Inborn
Intervention: Drug: Ataluren
6 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
7 Active, not recruiting Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy
Conditions: Muscular Dystrophy, Duchenne;   Muscular Dystrophies;   Muscular Disorders, Atrophic;   Muscular Diseases;   Musculoskeletal Diseases;   Neuromuscular Diseases;   Nervous System Diseases;   Genetic Diseases, X-Linked;   Genetic Diseases, Inborn
Interventions: Drug: Ataluren;   Drug: Placebo
8 Completed Measure Liver Fat Content After ISIS 301012 (Mipomersen) 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: ISIS 301012 (mipomersen)  sodium;   Drug: Placebo;   Drug: ISIS 301012 (mipomersen) sodium;   Drug: placebo;   Drug: ISIS 301012 (mipomersen)   sodium
9 Completed
Has Results
Open Label Extension of ISIS 301012 (Mipomersen) 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
10 Recruiting Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
11 Completed Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome
Condition: Cockayne Syndrome
Intervention: Drug: Prodarsan
12 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
13 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
14 Completed An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients With SEN0014196
Condition: Huntington's Disease
Interventions: Drug: SEN0014196 (Low Dose);   Drug: SEN0014196 (High Dose);   Drug: Placebo
15 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
16 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:
17 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
18 Completed PREventative Study Against URate-lowering Drug-induced Gout Exacerbations 1
Condition: Intercritical Gout
Intervention: Drug: rilonacept
19 Active, not recruiting Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy
Conditions: Mucopolysaccharidosis Type III A;   Sanfilippo Disease Type A
Intervention: Genetic: SAF-301
20 Completed Open-label, Single-arm Study to Assess the Pharmacokinetics, Safety, and Tolerability of a Single Subcutaneous Dose of Icatibant in Healthy Japanese Volunteers
Condition: Hereditary Angioedema (HAE)
Intervention: Drug: Icatibant (30 mg)

   Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results    Last Page
Indicates status has not been verified in more than two years