140 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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1 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
2 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
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 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 Recruiting Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
Condition: Gaucher Disease
Intervention: Drug: Imiglucérase (drug) pharmacokinetics
7 Recruiting Screening for Fabry Disease in a Pediatric Population at Risk
Conditions: Chronic Pain in the Extremities;   Chronic Abdominal Pain;   Fabry Disease
Intervention: Other: Screening for Fabry disease
8 Recruiting Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Conditions: Menkes Disease;   Occipital Horn Syndrome;   Unexplained Copper Deficiency
Intervention: Drug: Copper Histidine
9 Recruiting Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: migalastat HCl 150 mg
10 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
11 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
12 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation;   Behavioral: Psychological Assessment
13 Recruiting Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
Condition: UCDs (The Data May be Helpful in the Treatment of UCDs.)
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylbutyrate;   Drug: Phenylbutyrate and Benzoate
14 Recruiting International Collaborative Gaucher Group (ICGG) Gaucher Registry
Conditions: Gaucher Disease;   Cerebroside Lipidosis Syndrome;   Glucocerebrosidase Deficiency Disease;   Glucosylceramide Beta-Glucosidase Deficiency Disease
Intervention:
15 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
16 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
17 Recruiting Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
Condition: Fabry Disease
Intervention:
18 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
19 Available Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Drug: Lorenzo's Oil
20 Recruiting A Natural History Study of the Gangliosidoses
Conditions: Tay Sachs Disease;   Sandhoff Disease;   Late Onset Tay Sachs Disease
Intervention:

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