5346 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
1 Completed An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
Conditions: Charcot Marie Tooth Disease (CMT);   Hereditary Sensory and Motor Neuropathy;   Nerve Compression Syndromes;   Tooth Diseases;   Congenital Abnormalities;   Genetic Diseases, Inborn;   Heredodegenerative Disorders, Nervous System
Intervention:
2 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
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 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
5 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
6 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
7 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
8 Completed High-Density Lipoprotein (HDL) Treatment Study
Conditions: Coronary Arteriosclerosis;   Hypoalphalipoproteinemias;   Genetic Diseases, Inborn
Intervention: Drug: Atorvastatin; Fenofibrate; Niacin
9 Completed
Has Results
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: mipomersen;   Drug: Placebo
10 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
11 Recruiting Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
12 Completed Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome
Condition: Cockayne Syndrome
Intervention: Drug: Prodarsan
13 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
14 Recruiting Saline Hypertonic in Preschoolers
Condition: Cystic Fibrosis
Interventions: Drug: 7% Hypertonic Saline (HS);   Drug: 0.9% Isotonic Saline (IS)
15 Withdrawn Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
Condition: Congenital Adrenal Hyperplasia
Intervention: Drug: NBI-77860
16 Recruiting Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB
Condition: Mucopolysaccharidosis IIIB
Intervention: Drug: SBC-103
17 Recruiting Biomarker for Hurler Disease
Conditions: Mucopolysaccharidosis Type I;   MPS I;   Hurler-Scheie Syndrome;   Gargoylism, Hurler Syndrome
Intervention:
18 Active, not recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
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 Not yet recruiting Study of Recombinant Factor IX Product, IB1001, in Previously Treated Subjects With Hemophilia B
Condition: Hemophilia B
Intervention: Biological: IB1001

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Indicates status has not been verified in more than two years