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1453 studies found for:    Open Studies | "Genetic Diseases, Inborn"

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Rank Status Study
1 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
2 Recruiting Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
3 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:
4 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
5 Recruiting Biomarker for Maroteaux-Lamy Disease
Conditions: Maroteaux-lamy Disease;   Lysosomal Storage Diseases
Intervention:
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 Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy
Conditions: Polyneuropathies;   Amyloidosis;   Amyloid Neuropathies;   Amyloidosis, Familial;   Metabolic Diseases
Intervention:
8 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
9 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
10 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
11 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
12 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:
13 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
14 Unknown † New York Blood Center National Cord Blood Program
Conditions: Leukemia;   Lymphoma;   Genetic Disease;   Severe Aplastic Anemia;   Myelodysplasia
Interventions: Procedure: Umbilical Cord Blood Hematopoietic Stem Cell Transplantation;   Procedure: Umbilical Cord Blood Transplantation
15 Recruiting 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
16 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
17 Unknown † Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell Transplants
Conditions: Malignancy;   Metabolic Disease;   Genetic Disorder
Intervention: Biological: Thymoglobulin (rATG)
18 Recruiting Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Condition: Genetic Diseases
Intervention:
19 Recruiting Personalized Genomic Research: Congenital Malformations
Conditions: Genetics;   Genetic Disease;   Genetic Linkage;   Birth Defects;   Genetic Variation
Intervention:
20 Recruiting Inherited Reproductive Disorders
Conditions: Endocrine Diseases;   Genetic Disorder;   Infertility;   Hypogonadism;   Amenorrhea
Intervention:
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† Indicates status has not been verified in more than two years