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374 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"

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Rank Status Study
1 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
2 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
3 Recruiting Biomarker for Metachromatic Leukodystrophy Disease
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System
Intervention:
4 Completed Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
5 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
6 Recruiting Taurine Therapy for SSADH Deficiency
Condition: Succinic Semialdehyde Dehydrogenase
Intervention:
7 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
8 Unknown † Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
Conditions: I Cell Disease;   Fucosidosis;   Globoid Cell Leukodystrophy;   Adrenoleukodystrophy;   Mannosidosis;   Niemann-Pick Disease;   Pulmonary Complications;   Mucopolysaccharidosis I;   Mucopolysaccharidosis VI;   Metachromatic Leukodystrophy;   Gaucher's Disease;   Wolman Disease
Intervention:
9 Completed A Study of AT1001 in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001 (migalastat hydrochloride)
10 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
11 Completed Study of BH4, a New and Simple Treatment of Mild PKU
Condition: Phenylketonuria
Intervention: Drug: 5,6,7,8-tetrahydrobiopterin
12 Completed
Has Results 		A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
Conditions: Pompe Disease (Late-onset);   Glycogen Storage Disease Type II (GSD-II);   Acid Maltase Deficiency Disease;   Glycogenosis 2
Interventions: Biological: alglucosidase alfa;   Drug: Placebo
13 Unknown † The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
14 Completed Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
15 Unknown † Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
16 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation
17 Recruiting Immune Tolerance Induction Study
Conditions: Pompe Disease;   Glycogen Storage Disease Type II (GSD-II);   Glycogenesis 2 Acid Maltase Deficiency
Intervention: Biological: Myozyme (alglucosidase alfa)
18 Active, not recruiting Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
Condition: Fabry Disease
Interventions: Drug: migalastat hydrochloride;   Drug: Placebo
19 Active, not recruiting Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
Condition: Pompe Disease
Intervention: Biological: BMN 701
20 Enrolling by invitation An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry Patients
Condition: Fabry Disease
Intervention: Drug: PRX-102
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† Indicates status has not been verified in more than two years