1538 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
1 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
2 Recruiting Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
3 Recruiting Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB
Condition: Mucopolysaccharidosis IIIB
Intervention: Drug: SBC-103
4 Recruiting Biomarker for Hurler Disease
Conditions: Mucopolysaccharidosis Type I;   MPS I;   Hurler-Scheie Syndrome;   Gargoylism, Hurler Syndrome
Intervention:
5 Recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
6 Available Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant
Conditions: Acute Lymphoblastic Leukemia;   Acute Myeloid Leukemia;   Chronic Myeloid Leukemia;   Myelodysplastic Syndrome;   Lymphomas;   Bone Marrow Failure;   Hemoglobinopathy;   Immune Deficiency;   Osteopetrosis;   Cytopenias;   White Blood Cell Abnormalities;   Red Blood Cell Abnormalities
Intervention: Biological: CD34+ enriched, T Cell Depleted donor stem cell product
7 Recruiting Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
Condition: Congenital Adrenal Hyperplasia
Intervention: Drug: NBI-77860
8 Recruiting Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients
Conditions: Retinitis Pigmentosa;   Retinal Degeneration
Intervention: Device: Device name: "Retina Implant model Alpha". Surgical implantation of medical device into eye
9 Not yet recruiting Saline Hypertonic in Preschoolers
Condition: Cystic Fibrosis
Interventions: Drug: 7% Hypertonic Saline (HS);   Drug: 0.9% Isotonic Saline (IS)
10 Recruiting Biomarker for Maroteaux-Lamy Disease
Conditions: Maroteaux-lamy Disease;   Lysosomal Storage Diseases
Intervention:
11 Not yet recruiting Study of Recombinant Factor IX Product, IB1001, in Previously Treated Subjects With Hemophilia B
Condition: Hemophilia B
Intervention: Biological: IB1001
12 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Muscular Dystrophy;   Congenital Muscular Dystrophy;   Fukutin-related Protein Gene;   Limb Girdle;   FKRP Gene;   Childhood Onset LGMD;   Adult Onset LGMD;   POMT1;   POMT2;   POMGnT1;   LARGE;   Alpha Dystroglycan;   Dystroglycanopathy;   Centronuclear;   Multiminicore;   Multicore;   Minicore;   Congenital Fiber Type Disproportion;   Myotubular;   Nemaline;   Congenital Myopathy;   Neuromuscular;   Rigid Spine;   Phenotype-Genotype Correlation;   Cough Assisted Device;   Neuromuscular Disease;   Respiratory Exacerbation;   Invasive Ventilation;   Chest Physiotherapy;   Congenital Myopathies;   Genetic Mutations;   Hypertrophic Cardiomyopathy;   Wheelchair Use;   Cataract;   Opthalmoplegia;   Ullrich Congenital Muscular Dystrophy;   Intermediate Collagen VI Myopathy;   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   MDC1A;   Merosin Deficient Congenital Muscular Dystrophy;   Congenital Muscular Dystrophy Undiagnosed;   Congenital Muscular Dystrophy Merosin Positive;   Walker Warburg Syndrome;   Muscle Eye Brain Disease;   Fukuyama;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   Laminopathy;   Lamin AC;   SEPN 1 Related Myopathies;   Bethlem Myopathy;   Dystroglycanopathies;   LGMD2K;   LGMD2I;   LGMD2L;   LGMD2N;   Actin Aggregation Myopathy;   Cap Disease;   Central Core Disease;   Centronuclear Myopathy;   Core Rod Myopathy;   Hyaline Body Myopathy;   Multiminicore Myopathy;   Myotubular Myopathy;   Nemaline Myopathy;   Tubular Aggregate Myopathy;   Zebra Body Disease Myopathy;   Congenital Myopathy Other;   Reducing Body Myopathy;   Sarcotubular Myopathy;   Spheroid Body Myopathy
Intervention:
13 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
14 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
15 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
16 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
17 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
18 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
19 Recruiting The NIH Exercise Therapy for Advanced Lung Disease Trials: Response and Adaptation to Aerobic Exercise in Patients With Interstitial Lung Disease
Conditions: Interstitial Lung Disease;   Idiopathic Pulmonary Fibrosis;   Interstitial Pneumonitis;   Desquamative Interstitial Pneumonia
Intervention: Other: Aerobic Exercise Training
20 Recruiting Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
Intervention:

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Indicates status has not been verified in more than two years