480 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Completed
Has Results
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan®
22 Completed Open Label Long-term Safety Study of AT1001 in Patients With Fabry Disease Who Have Completed a Previous AT1001 Study
Condition: Fabry Disease
Intervention: Drug: AT1001
23 Recruiting Evaluation of Patients With Liver Disease
Conditions: Biliary Liver Cirrhosis,;   Hemochromatosis;   Hepatitis;   Hepatolenticular Degeneration;   Liver Disease
Intervention:
24 Completed Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001
25 Recruiting Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study.
Condition: Fabry Disease
Intervention: Device: ResMed Apnea Link plus
26 Completed Data Collection in Women With Fabry Disease
Condition: Fabry Disease
Intervention:
27 Completed Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)
Condition: MELAS Syndrome
Intervention: Biological: Intramuscular seasonal trivalent inactivated influenza vaccine
28 Completed Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells
Condition: Gaucher's Disease
Intervention: Genetic: human glucocerebrosidase cDNA
29 Completed Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®
Conditions: Pompe Disease (Late-Onset);   Glycogen Storage Disease Type II (GSD II);   Glycogenesis 2 Acid Maltase Deficiency
Intervention:
30 Completed Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Cholestasis
Intervention: Drug: Cholic Acids
31 Completed Hyperphenylalaninemia in Cerebral Malaria
Condition: Plasmodium Falciparum Malaria
Intervention:
32 Recruiting Clinical and Basic Investigations Into Erdheim Chester Disease
Conditions: Myelofibrosis;   Gaucher Disease;   Pulmonary Fibrosis;   Hermansky-Pudlak Syndrome (HPS);   Cancer
Intervention:
33 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
34 Enrolling by invitation Extension Study of PRX-102 for 24 Months
Condition: Fabry Disease
Intervention: Drug: PRX-102
35 Active, not recruiting Pilot Study To Assess CAT-2003 in Patients With Severe Hypertriglyceridemia
Conditions: Hyperlipidemias;   Hypertriglyceridemia;   Dyslipidemias;   Lipid Metabolism Disorders;   Metabolic Diseases
Interventions: Drug: CAT-2003;   Drug: Placebo
36 Enrolling by invitation Effects of Kuvan on Brain and Cognition in Individuals With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
37 Active, not recruiting Canakinumab in Patients With Active Hyper-IgD Syndrome
Condition: Mevalonate Kinase Deficiency
Intervention: Drug: Canakinumab
38 Completed Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients
Condition: Gaucher Disease
Intervention: Drug: PRX-112
39 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
40 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

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Indicates status has not been verified in more than two years