Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
1559 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Biomarker for Mucolipidosis Disorder Type I, II, III or IV
Conditions: Mucolipidosis Type I;   Mucolipidosis Type II;   Mucolipidosis Type III;   Mucolipidosis Type IV;   Mucolipidosis
Intervention:
22 Recruiting NeoGAA Extension Study
Condition: Glycogen Storage Disease Type II Pompe Disease
Intervention: Drug: GZ402666
23 Unknown  Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients
Condition: Marfan Syndrome
Interventions: Drug: Losartan and nebivolol;   Drug: Losartan;   Drug: Nebivolol
24 Recruiting Neurobiological Predictors of Huntington's Disease (PREDICT-HD)
Condition: Huntington Disease
Intervention:
25 Recruiting A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
Condition: Spinocerebellar Degeneration
Interventions: Drug: KPS-0373, High dose;   Drug: KPS-0373, Low dose
26 Recruiting Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)
Condition: Congenital Muscular Dystrophy
Intervention: Drug: Omigapil
27 Recruiting Hydroxyurea to Prevent Brain Injury in Sickle Cell Disease
Conditions: Sickle Cell Disease;   Stroke
Interventions: Drug: Hydroxyurea;   Drug: Placebo
28 Recruiting Clinical and Neuropsychological Investigations in Batten Disease
Condition: Neuronal Ceroid Lipofuscinosis
Intervention:
29 Recruiting An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome
Condition: Rett Syndrome
Intervention: Drug: Glatiramer Acetate  (Copaxone®)
30 Recruiting Effect of Lamotrigine on Cognition in NF1
Condition: Neurofibromatosis Type 1
Interventions: Drug: Lamotrigine;   Drug: Placebo
31 Recruiting Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Conditions: Batten Disease;   Late Infantile Neuronal Lipofuscinosis
Intervention:
32 Recruiting Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular Dystrophy
Condition: Facioscapulohumeral Muscular Dystrophy
Intervention: Biological: ATYR1940
33 Recruiting Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
Condition: Fabry Disease
Intervention:
34 Recruiting DS-Connect {TM}: The Down Syndrome Registry
Condition: Down Syndrome
Intervention:
35 Recruiting A Long-Term, Open-Label Study of LUM001 With a Double-Blind, Placebo Controlled, Randomized Drug Withdrawal Period to Evaluate Safety and Efficacy in Children With Alagille Syndrome
Condition: Alagille Syndrome
Interventions: Drug: LUM001;   Drug: Placebo
36 Recruiting Doxycycline Treatment in Mild Graves' Orbitopathy
Conditions: Graves Ophthalmopathy;   Graves Disease;   Eye Diseases;   Thyroid Diseases;   Endocrine System Diseases;   Eye Diseases, Hereditary;   Hyperthyroidism;   Autoimmune Diseases;   Immune System Diseases
Interventions: Drug: Doxycycline;   Drug: placebo
37 Recruiting Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
Condition: Kartagener Syndrome
Intervention:
38 Recruiting Treatment of Dysglycemia Using Sitagliptin in Adolescents With Cystic Fibrosis
Condition: Cystic Fibrosis
Intervention: Drug: Sitagliptin
39 Not yet recruiting Suitability of Nitisinone in Alkaptonuria 2
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
40 Recruiting Safety/Effectiveness Study of Cysteamine Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
Condition: Cystinosis
Intervention: Drug: RP103 Q12H

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Indicates status has not been verified in more than two years