514 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 Completed Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
3 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
4 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
5 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:
6 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
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 Active, not recruiting Study of the Long-term Effects of Exercise on Heath Indicators in Older People
Conditions: Hypertension With Complications and Secondary Hypertension;   Overweight and Obesity;   Lipid Metabolism Disorders;   Sarcopenia;   Osteoporosis;   Personal Satisfaction
Intervention: Behavioral: Exercise training
12 Completed Glycosylation in Patients With Galactosaemia
Condition: Classical Galactosaemia
Interventions: Other: lactose-free diet;   Dietary Supplement: Temporary oral galactose supplements
13 Active, not recruiting The Natural History of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention:
14 Completed Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies
Conditions: Pompe Disease Infantile-Onset;   Glycogen Storage Disease Type II
Intervention: Biological: Myozyme
15 Completed Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease
Conditions: Glycogen Storage Disease Type II;   Glycogenosis 2
Intervention: Biological: Myozyme
16 Enrolling by invitation Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Condition: Leigh Syndrome
Intervention: Drug: EPI-743
17 Active, not recruiting Colder Flank Study
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
18 Unknown  Thrombocytopathy in Gaucher Disease Patients
Conditions: Gaucher Disease;   Thrombocytopathy
Intervention:
19 Completed Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Procedure: MRI
20 Completed A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease
Intervention:

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