Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome | MicrobiomeTrials← Back to trialsNCT00001456
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
RecruitingOBSERVATIONAL
Trial Details
Enrollment target: 600 participants Locations- National Institutes of Health Clinical Center, Bethesda, Maryland, United States
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Pulmonary FibrosisHealthy VolunteersHermansky-Pudlak Syndrome (HPS)
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Spinal Muscular AtrophyFragile X SyndromeFragile X - PremutationDuchenne Muscular DystrophyHyperinsulinemic Hypoglycemia, Familial 1Diabetes MellitusAdrenoleukodystrophy, NeonatalMedium-chain Acyl-CoA Dehydrogenase Deficiency
Very Long Chain Acyl Coa Dehydrogenase Deficiency
Beta-ketothiolase Deficiency
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Congenital Bile Acid Synthesis Defect Type 2
Pyridoxine-Dependent Epilepsy
Hereditary Fructose Intolerance
Hypophosphatasia
Hyperargininemia
Mucopolysaccharidosis Type 6
Argininosuccinic Aciduria
Citrullinemia, Type I
Wilson Disease
Maple Syrup Urine Disease, Type 1A
Maple Syrup Urine Disease, Type 1B
Biotinidase Deficiency
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Intrinsic Factor Deficiency
Usher Syndrome Type 1D/F Digenic (Diagnosis)
Cystic Fibrosis
Stickler Syndrome Type 2
Stickler Syndrome Type 1
Alport Syndrome, Autosomal Recessive
Alport Syndrome, X-Linked
Carbamoyl Phosphate Synthetase I Deficiency Disease
Carnitine Palmitoyl Transferase 1A Deficiency
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Cerebrotendinous Xanthomatoses
Maple Syrup Urine Disease, Type 2
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Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 5
Supravalvar Aortic Stenosis
Factor X Deficiency
Hemophilia A
Hemophilia B
Tyrosinemia, Type I
Fructose 1,6 Bisphosphatase Deficiency
Glycogen Storage Disease Type I
G6PD Deficiency
Glycogen Storage Disease II
Galactokinase Deficiency
Mucopolysaccharidosis Type IV A
Galactosemias
Guanidinoacetate Methyltransferase Deficiency
Agat Deficiency
Glutaryl-CoA Dehydrogenase Deficiency
Gtp Cyclohydrolase I Deficiency
Hyperinsulinism-Hyperammonemia Syndrome
Primary Hyperoxaluria Type 2
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Mitochondrial Trifunctional Protein Deficiency
Sickle Cell Disease
Beta-Thalassemia
Holocarboxylase Synthetase Deficiency
3-Hydroxy-3-Methylglutaric Aciduria
Primary Hyperoxaluria Type 3
Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 4
Apparent Mineralocorticoid Excess
HSDB
CBAS1
Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type 1
Severe Combined Immunodeficiency, X Linked
Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency
Diabetes Mellitus, Permanent Neonatal
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Glycogen Storage Disease IXB
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MOWS
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Transcobalamin II Deficiency
Thyroid Dyshormonogenesis 3
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Thyroid Dyshormonogenesis 2A
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Usher Syndrome Type 1C
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Von Willebrand Disease, Type 3
Combined Immunodeficiency Due to ZAP70 Deficiency
Adenine Phosphoribosyltransferase Deficiency
Metachromatic Leukodystrophy
Canavan Disease
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17 Alpha-Hydroxylase Deficiency
Smith-Lemli-Opitz Syndrome
Krabbe Disease
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Mucopolysaccharidosis Type 7
Rett Syndrome
Molybdenum Cofactor Deficiency, Type A
Niemann-Pick Disease, Type C1
Niemann-Pick Disease Type C2
Ornithine Aminotransferase Deficiency
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Mucopolysaccharidosis Type 3 A
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Glucose Transporter Type 1 Deficiency Syndrome
Creatine Transporter Deficiency
Niemann-Pick Disease Type A
Pitt Hopkins Syndrome
Tuberous Sclerosis 1
Tuberous Sclerosis 2
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Factor VII Deficiency
Glycogen Storage Disease Type IXA1
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