515 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 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:
3 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
4 Recruiting UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy;   Batten Disease;   Mucopolysaccharidosis II;   Leukodystrophy, Globoid Cell;   Leukodystrophy, Metachromatic;   Neimann Pick Disease;   Pelizaeus-Merzbacher Disease;   Sandhoff Disease;   Tay-Sachs Disease;   Brain Diseases, Metabolic, Inborn
Intervention: Biological: DUOC-01
5 Completed Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
6 Recruiting Natural History Study of Children With Metachromatic Leukodystrophy
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Brain Diseases, Metabolic;   Brain Diseases;   Central Nervous System Diseases;   Nervous System Diseases;   Sulfatidosis;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System;   Leukoencephalopathies;   Demyelinating Diseases;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Lipidoses;   Lipid Metabolism, Inborn Errors;   Lysosomal Storage Diseases;   Metabolic Diseases;   Lipid Metabolism Disorders
Intervention: Other: Natural History Study of Children With Metachromatic Leukodystrophy
7 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
8 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
9 Completed Taurine Therapy for SSADH Deficiency
Condition: Succinic Semialdehyde Dehydrogenase
Intervention:
10 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
11 Completed The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)
Conditions: X-linked Adrenoleukodystrophy;   Adrenomyeloneuropathy
Intervention: Drug: Bezafibrate
12 Approved for marketing Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Drug: velaglucerase alfa
13 No longer available Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease
Condition: Gaucher Disease
Intervention: Drug: Plant cell expressed recombinant glucocerebrosidase (prGCD)
14 Recruiting Phenylbutyrate Therapy for Maple Syrup Urine Disease
Condition: Maple Syrup Urine Disease
Interventions: Drug: Phenylbutyrate;   Drug: Placebo powder
15 Completed A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants
Condition: Adrenomyeloneuropathy
Interventions: Drug: N-acetylcysteine;   Drug: lipoic acid;   Drug: vitamin E
16 Terminated A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101
Condition: Type 1 Gaucher Disease
Intervention: Drug: AT2101
17 Recruiting Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease
Condition: Fabry's Disease
Intervention: Drug: GZ/SAR402671
18 Completed Study of the Pathophysiological Mechanisms Involved in Bleeding Events
Condition: Oculocerebrorenal Syndrome
Intervention: Other: Blood sample
19 Completed Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: rAvPAL-PEG
20 Completed Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria
Condition: Phenylketonurias
Intervention: Drug: sapropterin dihydrochloride

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