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6837 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
21 Completed Fundus Changes in the Microphthalmy Eyes
Condition: Eye Diseases, Hereditary
Intervention:
22 Completed Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
Intervention:
23 Recruiting A Study Comparing the Quality of Life of Patients in the Treatment of Eczema by Pediatric Generalists and Specialists
Conditions: Eczema;   Dermatitis;   Dermatitis, Atopic;   Genetic Disease, Inborn;   Hypersensitivity;   Hypersensitivity, Immediate;   Immune System Diseases;   Skin Diseases;   Skin Diseases, Eczematous;   Skin Diseases, Genetic
Interventions: Other: Care provided by general pediatrician;   Other: Care provided by pediatric dermatologist
24 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
25 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
26 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:
27 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:
28 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
29 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
30 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
31 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
32 Completed Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance
Conditions: Hereditary Fructose Intolerance;   Fructose Metabolism, Inborn Errors;   Glucose Metabolism Disorders
Intervention: Other: Test meal
33 Completed Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM
Conditions: Cytochrome P450 CYP2D6 Enzyme Deficiency;   Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant;   Ultrarapid Metabolizer Due to Cytochrome P450 CYP2D6 Variant;   Extensive Metabolizer Due to Cytochrome P450 CYP2D6 Variant;   Cytochrome P450 CYP2C9 Enzyme Deficiency;   Cytochrome P450 CYP2C19 Enzyme Deficiency;   Drug Metabolism, Poor, CYP2D6-RELATED;   Drug Metabolism, Poor, CYP2C19-RELATED;   CYP2D6 Polymorphism
Interventions: Genetic: Pharmacogenetic testing;   Other: Software-based drug & gene interaction risk analysis;   Other: MTM
34 Recruiting The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
Conditions: UCD;   MMA;   Acidemias;   Fatty Acid Oxidation Defects;   Mitochondrial Disease
Intervention:
35 Terminated Pharmacogenetic Factors and Side Effects of Metoclopramide and Diphenhydramine
Condition: Drug Metabolism, Poor, CYP2D6-RELATED
Interventions: Drug: Diphenhydramine;   Drug: Metoclopramide
36 Suspended Ataluren for Nonsense Mutation Methylmalonic Acidemia
Condition: Amino Acid Metabolism, Inborn Errors
Intervention: Drug: Ataluren (PTC124)
37 Terminated In Vitro NMR Spectroscopy in Neurological Diseases
Condition: Neurological Diseases
Intervention:
38 Recruiting Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Condition: Metabolism
Intervention:
39 Unknown  Bezafibrate Trial in CPT2 Deficiency
Condition: Carnitine Palmitoyl Transferase 2 Deficiency
Intervention: Drug: bezafibrate (drug)
40 Completed Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids
Condition: Inborn Errors of Metabolism
Intervention: Drug: Oil special 107 and MYGLIOL 810

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Study has passed its completion date and status has not been verified in more than two years.