1637 studies found for:    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 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
3 Recruiting Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
4 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:
5 Unknown  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
6 Not yet recruiting Study of Recombinant Factor IX Product, IB1001, in Previously Treated Subjects With Hemophilia B
Condition: Hemophilia B
Intervention: Biological: IB1001
7 Recruiting Biomarker for Maroteaux-Lamy Disease
Conditions: Maroteaux-lamy Disease;   Lysosomal Storage Diseases
Intervention:
8 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
9 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
10 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
11 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
12 Recruiting Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
Condition: MPS IIIB (Sanfilippo B Syndrome)
Intervention:
13 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
14 Not yet recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
15 Recruiting Clinical Implementation of Carrier Status Using Next Generation Sequencing
Condition: Genetic Disorders
Interventions: Genetic: Whole Genome Sequencing;   Genetic: Carrier status testing
16 Recruiting Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
Conditions: Amyotrophic Lateral Sclerosis;   Frontotemporal Dementia;   PLS;   Motor Neuron Disease;   Lou Gehrigs Disease;   Familial Disease;   Amyotrophic Lateral Sclerosis, Sporadic
Intervention:
17 Recruiting A Social Media Approach to Improve Genetic Risk Communication Phase I
Condition: Hereditary Diseases
Interventions: Behavioral: Audiotaped Focus Group;   Behavioral: Demographic Questionnaire;   Behavioral: Audiotaped Interview;   Behavioral: WAMMI Inventory
18 Available Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Conditions: Fanconi Anemia;   Autosomal or Sex Linked Recessive Genetic Disease;   Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.;   Hematopoiesis Maintainance.
Interventions: Genetic: human whole exome;   Genetic: whole genomic
19 Recruiting New York Blood Center National Cord Blood Program
Conditions: Leukemia;   Lymphoma;   Genetic Disease;   Severe Aplastic Anemia;   Myelodysplasia
Intervention: Biological: Umbilical Cord Blood Transplantation
20 Unknown  Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
Conditions: Sickle Cell Disease;   Thalassemia;   Anemia;   Granuloma;   Wiskott-Aldrich Syndrome;   Chediak Higashi Syndrome;   Osteopetrosis;   Neutropenia;   Thrombocytopenia;   Hurler Disease;   Niemann-Pick Disease;   Fucosidosis
Intervention: Procedure: Hematopoietic stem cell transplantation

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Indicates status has not been verified in more than two years