1877 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
1 Recruiting Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
2 Recruiting Study to Evaluate the Safety,Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of AIR DNase™in Patients With Cystic Fibrosis Previously Treated With Pulmozyme®
Condition: Cystic Fibrosis
Intervention: Drug: AIR DNase™
3 Recruiting Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy
Conditions: Metabolic Diseases;   Amyloid Neuropathies;   Amyloidosis, Familial;   Polyneuropathies
Intervention:
4 Not yet recruiting Efficacy and Safety Study of MSRD-100 in Subjects With Atopic Dermatitis >=3 Months of Age and Older
Condition: Atopic Dermatitis
Interventions: Drug: MSRD-100;   Drug: Vehicle
5 Not yet recruiting Efficacy and Safety Study of MSRD-100 in Subjects With Atopic Dermatitis >=3 Months of Age and Older
Condition: Atopic Dermatitis
Interventions: Drug: MSRD-100;   Drug: Vehicle
6 Recruiting Saline Hypertonic in Preschoolers
Condition: Cystic Fibrosis
Interventions: Drug: 7% Hypertonic Saline (HS);   Drug: 0.9% Isotonic Saline (IS)
7 Recruiting Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease
Conditions: Mucopolysaccharidosis Type I;   MPS I;   Hurler-Scheie Syndrome;   Gargoylism, Hurler Syndrome
Intervention:
8 Unknown  Study of Recombinant Factor IX Product, IB1001, in Previously Treated Subjects With Hemophilia B
Condition: Hemophilia B
Intervention: Biological: IB1001
9 Recruiting Biomarker for Maroteaux-Lamy Disease
Conditions: Maroteaux-lamy Disease;   Lysosomal Storage Diseases
Intervention:
10 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
11 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
12 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
13 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:
14 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
15 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;   Leukocyte Disorders;   Anemia Due to Intrinsic Red Cell Abnormality
Intervention: Biological: CD34+ enriched, T Cell Depleted donor stem cell product
16 Recruiting Pediatric Patients With Metabolic or Other Genetic Disorders
Conditions: Genetic Disorder;   Asperger Disorder;   Autism Spectrum Disorder;   Fragile X Syndrome;   Developmental Delay
Intervention:
17 Recruiting Natural History of Noncirrhotic Portal Hypertension
Conditions: Cystic Fibrosis;   Immunologic Deficiency Syndrome;   Turner Syndrome;   Congenital Hepatic Fibrosis;   Idiopathic Non-Cirrhotic Portal Hypertension
Intervention:
18 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
Interventions: Other: Aerobic Exercise Training;   Other: Education
19 Recruiting Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years
Condition: Ataxic Infantile Cerebral Palsy
Intervention: Biological: stem cell (MNCs )
20 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:

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Indicates status has not been verified in more than two years