521 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 Completed
Has Results
Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
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 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
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 Recruiting LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
12 Completed Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Condition: Metachromatic Leukodystrophy
Intervention: Drug: rhASA
13 Unknown  Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
Conditions: Mucopolysaccharidosis;   Fabry Disease
Intervention:
14 Not yet recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
15 Withdrawn Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria
Condition: PKU
Interventions: Dietary Supplement: diet;   Drug: sapropterin dihydrochloride
16 Completed Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
Condition: Phenylketonuria
Interventions: Drug: Sapropterin dihydrochloride;   Drug: Placebo
17 Active, not recruiting Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD)
Conditions: Pelizaeus-Merzbacher Disease;   PMD
Intervention: Biological: HuCNS-SC transplant in the lead-in phase
18 Recruiting Home Therapy With VPRIV in Gaucher's Disease
Condition: Gaucher's Disease
Intervention:
19 Active, not recruiting To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
20 Completed Pilot Study on The Flanks of Asian Patients
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System

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Indicates status has not been verified in more than two years