480 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 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 Completed Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
6 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
7 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
8 Completed Taurine Therapy for SSADH Deficiency
Condition: Succinic Semialdehyde Dehydrogenase
Intervention:
9 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
10 Active, not recruiting A Clinical Study to Evaluate the Safety,Tolerability and PK of ZYT1, Following Oral Administration in Healthy Volunteers
Conditions: Obesity;   Lipid Disorders
Interventions: Drug: ZYT1;   Drug: Placebo tablets
11 Completed Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal Function
Condition: Fabry Disease
Intervention: Drug: AT1001 150 mg
12 Recruiting Alpha-linolenic Acid and Blood Pressure
Conditions: Hypertension;   Lipid Metabolism Disorders
Interventions: Dietary Supplement: Flaxseed oil;   Dietary Supplement: high oleic sunflower oil (HOSF)
13 Completed Study to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity Assessment
Condition: Urea Cycle Disorders
Intervention: Other: sodium [1-13C] acetate
14 Withdrawn Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)
Conditions: X-Linked Adrenoleukodystrophy;   Adrenomyeloneuropathy
Intervention: Drug: Sobetirome
15 Recruiting Pompe Lactation Sub-Registry
Conditions: Glycogen Storage Disease;   Pompe Disease
Intervention: Biological: alglucosidase alfa
16 Completed Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD)
Condition: Gaucher Disease
Intervention: Drug: Human Glucocerebrosidase (prGCD)
17 Completed Stearidonic Acid and Lipid Metabolism
Condition: Lipid Metabolism Disorders
Interventions: Dietary Supplement: Echium oil (SDA-rich oil);   Dietary Supplement: high-oleic acid sunflower oil (HOSO) (low in SDA)
18 Completed
Has Results
Lipid Management in Clinical Practice (MK-0524A-115)
Condition: Lipid Metabolism Disorder
Intervention:
19 Completed Stem Cell Transplantation (SCT) for Genetic Diseases
Conditions: Thrombocytopenia;   Metachromatic Leukodystrophy;   Fanconi's Anemia;   Thalassemia Major;   Pure Red-Cell Aplasia;   Inborn Errors of Metabolism
Intervention: Procedure: Stem Cell Transplantation
20 Completed A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Fabrazyme (agalsidase beta)

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Indicates status has not been verified in more than two years