436 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 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
4 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:
5 Completed Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
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 Completed
Has Results
Safety Study of Replagal® Therapy in Children With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: Replagal (agalsidase alfa)
12 Recruiting Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Condition: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Intervention:
13 Completed Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
Conditions: Lysosomal Storage Disease;   Peroxisomal Disorder
Interventions: Drug: Campath-1H;   Drug: Clofarabine;   Drug: Melphalan;   Radiation: Total Body Irradiation with Marrow Boosting;   Biological: Hematopoietic stem cell transplantation;   Drug: Cyclosporine A;   Drug: Mycophenolate mofetil
14 Unknown  Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
Conditions: Mucopolysaccharidosis;   Fabry Disease
Intervention:
15 Completed Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Condition: Metachromatic Leukodystrophy
Intervention: Drug: rhASA
16 Completed A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.
Conditions: Gaucher Disease Type I;   Cerebroside Lipidosis Syndrome;   Clucocerebrosidase Deficiency Disease;   Glucosylceramide Beta-Glucosidase Deficiency Disease;   Gaucher Disease, Non-Neuronopathic Form
Intervention: Drug: Cerezyme (imiglucerase for injection)
17 Recruiting Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Condition: Neimann-Pick Disease, Type C
Intervention:
18 Completed
Has Results
Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Condition: Gaucher Disease, Type 1
Interventions: Biological: velaglucerase alfa;   Biological: imiglucerase
19 Completed Genetic and Family Studies of Inherited Muscle Diseases
Conditions: Dermatomyositis;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type VII;   Myositis;   Polymyositis
Intervention:
20 Suspended Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease
Condition: Type I Gaucher Disease
Intervention: Drug: Ambroxol

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Indicates status has not been verified in more than two years