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6334 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
1 Enrolling by invitation Utilizing Free DNA in Embryo Culture for PGS
Conditions: Chromosome Abnormalities;   Genetic Diseases, Inborn;   Mutation
Intervention: Procedure: NGS reading for Media Free DNA
2 Enrolling by invitation Uterine Irrigation Method in Infertility Patients Who Require PGD
Conditions: Pre-Implantation Embryo Recovery;   Genetic Diseases, Inborn
Intervention: Device: Uterine Lavage Group
3 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:
4 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
5 Terminated Natural History Study of Children With Metachromatic Leukodystrophy
Conditions: Lipid Metabolism Disorders;   Metachromatic Leukodystrophy (MLD);   Nervous System Diseases;   Brain Diseases;   Central Nervous System Diseases;   Demyelinating Diseases;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Sphingolipidoses;   Hereditary Central Nervous System Demyelinating Diseases;   Metabolic Inborn Brain Diseases;   Lysosomal Storage Diseases;   Metabolic Diseases;   Sulfatidosis
Intervention:
6 Completed 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
7 Completed
Has Results
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
8 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
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 Completed High-Density Lipoprotein (HDL) Treatment Study
Conditions: Coronary Arteriosclerosis;   Hypoalphalipoproteinemias;   Genetic Diseases, Inborn
Intervention: Drug: Atorvastatin; Fenofibrate; Niacin
11 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
12 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
13 Recruiting Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
14 Completed Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome
Condition: Cockayne Syndrome
Intervention: Drug: Prodarsan
15 Completed
Has Results
Study of VX-809 in Cystic Fibrosis Subjects With the ∆F508-CFTR Gene Mutation
Condition: Cystic Fibrosis
Interventions: Drug: VX-809;   Drug: Placebo
16 Recruiting Study to Evaluate the Safety,Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of AIR DNase™in Patients With Cystic Fibrosis Previously Treated With Pulmozyme®
Condition: Cystic Fibrosis
Intervention: Drug: AIR DNase™
17 Recruiting Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy
Conditions: Metabolic Diseases;   Amyloid Neuropathies;   Amyloidosis, Familial;   Polyneuropathies
Intervention:
18 Withdrawn Efficacy and Safety Study of MSRD-100 in Subjects With Atopic Dermatitis >=3 Months of Age and Older
Condition: Atopic Dermatitis
Interventions: Drug: MSRD-100;   Drug: Vehicle
19 Withdrawn Efficacy and Safety Study of MSRD-100 in Subjects With Atopic Dermatitis >=3 Months of Age and Older
Condition: Atopic Dermatitis
Interventions: Drug: MSRD-100;   Drug: Vehicle
20 Recruiting Saline Hypertonic in Preschoolers
Condition: Cystic Fibrosis
Interventions: Drug: 7% Hypertonic Saline (HS);   Drug: 0.9% Isotonic Saline (IS)

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