521 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Completed Study of Homocysteine Metabolism in Homocystinuria
Condition: Homocystinuria
Intervention:
22 Suspended Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate
23 Completed The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)
Condition: Neutral Lipid Storage Disease
Intervention: Drug: Fibrate treatment
24 Terminated Enzyme Replacement Therapy in Fabry Disease
Condition: Fabry Disease
Intervention: Other: Biochemical analyses.
25 Completed Fabry and Stroke Epidemiological Protocol (FASEP): Risk Factors In Ischemic Stroke Patients With Fabry Disease
Conditions: Cerebrovascular Accident;   Stroke, Acute;   Cerebral Stroke
Intervention:
26 Recruiting A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention: Drug: RAVICTI
27 Unknown  Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Condition: Phenylketonuria
Intervention: Drug: tetrahydrobiopterin (BH4)
28 Completed
Has Results
Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: Replagal
29 Recruiting Response to Diaphragmatic Pacing in Subjects With Pompe Disease
Condition: Pompe Disease
Interventions: Other: Pulmonary function testing;   Other: Resting breathing pattern;   Other: Respiratory muscle endurance test;   Other: Phrenic nerve stimulation;   Other: Maximal inspiratory pressure;   Other: Forced expiratory testing;   Other: EMG
30 Recruiting A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction
Conditions: Pompe Disease;   Hypersensitivity Reaction
Interventions: Procedure: Blood collection for anti-GAA antibody level;   Procedure: Punch Muscle Biopsy;   Behavioral: Survey;   Drug: Zavesca® 100 mg;   Drug: Zavesca® 300 mg
31 Terminated A Pilot Study on Diurnal Variation
Condition: Phenylketonuria (PKU)
Intervention: Drug: Kuvan
32 Completed
Has Results
Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
Condition: Phenylketonurias
Intervention: Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
33 Completed Comparison of BMD Measurement by DEXA to BeamMed Speed-of-Sound Measurement at Forearm in Patients With Gaucher Disease
Condition: Gaucher Disease Type 1
Intervention: Device: BeamMed Speed-of-Sound bone strength test at forearm
34 Completed
Has Results
Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase
Condition: Gaucher Disease, Type 1
Intervention: Biological: GA-GCB (velaglucerase alfa)
35 Completed Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy
Condition: Gaucher Disease, Type 1
Intervention: Drug: AT2101
36 Unknown  Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis
Condition: Gangliosidoses GM2
Intervention: Drug: miglustat
37 Recruiting Biomarker for GM1/GM2 - Gangliosidoses
Conditions: Gangliosidosis;   GM1-Gangliosidosis;   GM2-Gangliosidosis;   Hexosaminidase Activator Deficiency;   Tay-Sachs Disease, AB Variant;   Hexosaminidase A and B Deficiency;   Sandhoff Disease
Intervention:
38 Recruiting PKU Kuvan Imaging Study
Condition: Phenylketonuria
Intervention:
39 Recruiting Neurocognitive Outcomes in Mild Hyperphenylalaninemia Study
Conditions: Phenylketonuria;   Mild Hyperphenylalaninemia
Intervention:
40 Recruiting Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Condition: Pompe Disease
Intervention: Other: Observational

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Indicates status has not been verified in more than two years