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
435 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Unknown  Inactive FSH in Galactosemia
Conditions: Galactosemia;   Premature Ovarian Failure
Intervention: Drug: follitropin and lutropin
22 Completed A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001 (migalastat hydrochloride)
23 Recruiting Inhibitory rTMS in Dystonic Wilson Patients
Conditions: Wilson Disease;   Movement Disorders;   Repetitive Transcranial Magnetic Stimulation
Interventions: Device: Repetitive Transcranial Magnetic Stimulation (rTMS);   Other: pre and post-rTMS electroencephalogram;   Other: WCRS;   Other: handwriting scale DPRE;   Other: visual analog scale of discomfort writing and parameters collected on touchpad
24 Active, not recruiting Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
Condition: Leigh Syndrome
Interventions: Drug: Placebo;   Drug: EPI-743 15 mg/kg;   Drug: EPI-743 5 mg/kg
25 Completed Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I
Condition: Tyrosinemia, Type I
Intervention: Drug: NTBC
26 Completed A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
Condition: Gaucher Disease
Interventions: Drug: ISU302;   Drug: Placebo
27 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
28 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
29 Active, not recruiting Extension Study for Patients Who Have Participated in a BMN 701 Study
Condition: Pompe Disease
Intervention: Biological: BMN 701
30 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
31 Terminated A Pilot Study on Diurnal Variation
Condition: Phenylketonuria (PKU)
Intervention: Drug: Kuvan
32 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;   Other: Respiratory muscle strength training
33 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
34 Enrolling by invitation Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
Condition: Phenylketonuria
Interventions: Dietary Supplement: Amino Acid (AA) Diet Given First;   Dietary Supplement: Glycomacropeptide (GMP) diet given first
35 Completed Follow-up of Adult Phenylketonuria (PKU) Patients
Conditions: Nutritional Deficiencies;   Phenylketonuria
Intervention:
36 Completed
Has Results
Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease
Condition: Lesch-Nyhan Disease
Intervention: Drug: Ecopipam
37 Completed
Has Results
A Study of Fabrazyme in Pediatric Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: Fabrazyme (agalsidase beta)
38 Completed
Has Results
Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease
Conditions: Gaucher Disease, Type 1;   Cerebroside Lipidosis Syndrome;   Glucocerebrosidase Deficiency Disease;   Glucosylceramide Beta-Glucosidase Deficiency Disease;   Gaucher Disease, Non-Neuronopathic Form
Intervention: Drug: Cerezyme
39 Suspended Fabry Screening Study
Condition: Fabry Disease
Intervention:
40 Not yet recruiting Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone

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Indicates status has not been verified in more than two years