5965 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
21 Active, not recruiting Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB
Condition: Mucopolysaccharidosis IIIB
Intervention: Drug: SBC-103
22 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:
23 Active, not recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
24 Active, not recruiting Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy
Conditions: Mucopolysaccharidosis Type III A;   Sanfilippo Disease Type A
Intervention: Genetic: SAF-301
25 Unknown  Study of Recombinant Factor IX Product, IB1001, in Previously Treated Subjects With Hemophilia B
Condition: Hemophilia B
Intervention: Biological: IB1001
26 Completed
Has Results
Open-label, Single-arm Study to Assess the Pharmacokinetics, Safety, and Tolerability of a Single Subcutaneous Dose of Icatibant in Healthy Japanese Volunteers
Condition: Hereditary Angioedema (HAE)
Intervention: Drug: Icatibant (30 mg)
27 Completed Atopic Dermatitis Research Network (ADRN) Influenza Vaccine Study
Condition: Dermatitis, Atopic
Interventions: Biological: Fluzone® Intradermal Vaccine;   Biological: Fluzone® (Intramuscular) vaccine
28 Completed Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy
Conditions: Polyneuropathies;   Amyloidosis;   Amyloid Neuropathies;   Amyloidosis, Familial;   Metabolic Diseases
Intervention:
29 Completed A Open-label Food Effect Study With SEN0014196 in Subjects With Huntington Disease
Condition: Huntington's Disease
Intervention: Drug: SEN0014196
30 Completed An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients With SEN0014196
Condition: Huntington Disease
Interventions: Drug: SEN0014196 (Low Dose);   Drug: SEN0014196 (High Dose);   Drug: Placebo
31 Completed Intracerebral Gene Therapy for Sanfilippo Type A Syndrome
Conditions: Mucopolysaccharidosis Type III A;   Sanfilippo Disease Type A
Intervention: Genetic: SAF-301
32 Recruiting Biomarker for Maroteaux-Lamy Disease
Conditions: Maroteaux-lamy Disease;   Lysosomal Storage Diseases
Intervention:
33 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
34 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
35 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
36 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:
37 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
38 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
39 Active, not 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
40 Completed PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2)
Condition: Gout
Interventions: Drug: placebo;   Drug: rilonacept

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Indicates status has not been verified in more than two years