Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
492 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Recruiting Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
Condition: Neimann-Pick Disease
Intervention: Drug: Vorinostat
22 Completed Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
Condition: Pompe's Disease
Intervention: Procedure: blood test
23 Active, not recruiting Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN)
Conditions: Urea Cycle Disorders,;   Crigler Najjar Syndrome
Intervention: Biological: HepaStem
24 Completed A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease
Condition: Glycogen Storage Disease Type II
Intervention: Biological: Myozyme
25 Not yet recruiting ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
Conditions: Movement Disorders;   Essential Tremor;   Holmes Tremor;   Parkinson's Disease;   Wilson's Disease;   Huntington's Disease;   Dystonia;   Tardive Dyskinesia;   Orofacial Dyskinesias
Intervention: Device: Transcranial ExAblate System
26 Active, not recruiting Canakinumab in Patients With Active Hyper-IgD Syndrome
Condition: Mevalonate Kinase Deficiency
Intervention: Drug: Canakinumab
27 Enrolling by invitation Effects of Kuvan on Brain and Cognition in Individuals With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
28 Completed Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration
Conditions: Lipid Metabolism, Inborn Errors;   Hyperlipidemias;   Metabolic Diseases;   Hypolipoproteinemia;   Hypolipoproteinemias;   Hypobetalipoproteinemias;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Congenital Abnormalities;   Metabolic Disorder;   Hypercholesterolemia;   Dyslipidemias;   Lipid Metabolism Disorders
Interventions: Drug: ISIS 301012 (mipomersen)  sodium;   Drug: Placebo;   Drug: ISIS 301012 (mipomersen) sodium;   Drug: placebo;   Drug: ISIS 301012 (mipomersen)   sodium
29 Completed Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients
Condition: Gaucher Disease
Intervention: Drug: PRX-112
30 Completed Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Procedure: MRI
31 Unknown  Thrombocytopathy in Gaucher Disease Patients
Conditions: Gaucher Disease;   Thrombocytopathy
Intervention:
32 Completed A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease
Intervention:
33 Active, not recruiting A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Patients With Infantile-Onset Pompe Disease Who Have Never Been Treated
Conditions: Pompe Disease (Infantile-Onset);   Glycogen Storage Disease Type II (GSD II);   Glycogenosis 2;   Acid Maltase Deficiency
Intervention: Biological: alglucosidase alfa
34 Completed Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
Conditions: Pompe Disease;   Glycogen Storage Disease Type II;   Acid Maltase Deficiency Disease;   Glycogenosis 2
Intervention: Drug: recombinant human acid alpha-glucosidase (rhGAA)
35 Recruiting Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients
Condition: Wilson Disease
Interventions: Drug: WTX101;   Drug: Omeprazole
36 Active, not recruiting Colder Flank Study
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
37 Completed Antiproteinuric Agents and Fabry Disease
Conditions: Fabry Disease;   Proteinuria
Intervention:
38 Completed
Has Results
This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.
Condition: Fabry Disease
Intervention: Biological: agalsidase alfa
39 Completed An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Replagal
40 Completed PET Scan of Brain Metabolism in Relation to Age and Disease
Conditions: Alzheimer's Disease;   Brain Neoplasm;   Niemann Pick Disease
Intervention: Drug: 15 O Water

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Indicates status has not been verified in more than two years