139 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
Conditions: Childhood Cerebral Adrenoleukodystrophy;   (X-linked Adrenoleukodystrophy Cerebral Childhood)
Interventions: Genetic: Lenti-D Drug Product;   Drug: Busulfan;   Drug: Cyclophosphamide;   Drug: Filgrastim
22 Unknown  Oral Glyceryl Triacetate (GTA) in Newborns With Canavan
Condition: Canavan Disease
Interventions: Dietary Supplement: GTA (Glyceryl triacetate);   Drug: GTA glyceryl triacetate
23 Recruiting Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
Condition: Fabry Disease
Intervention:
24 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:
25 Recruiting A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Iohexol
26 Recruiting Neurocognitive Outcomes in Mild Hyperphenylalaninemia Study
Conditions: Phenylketonuria;   Mild Hyperphenylalaninemia
Intervention:
27 Unknown  Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders
Conditions: Phenylketonuria;   Behavior and Behavior Mechanisms;   PAH Gene Expression
Intervention: Drug: sapropterin dihydrochloride
28 Recruiting Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Condition: Pompe Disease
Intervention: Other: Observational
29 Recruiting The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease
Conditions: Fabry Disease;   Fabry´s Disease;   Anderson-Fabry Disease
Intervention:
30 Recruiting Betaine and Peroxisome Biogenesis Disorders
Condition: Peroxisome Biogenesis Disorder (PBD)
Intervention: Drug: Betaine
31 Recruiting A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: agalsidase alfa
32 Recruiting Nitric Oxide Supplementation in Argininosuccinic Aciduria
Conditions: Argininosuccinic Aciduria;   Argininosuccinate Lyase Deficiency;   Urea Cycle Disorders
Interventions: Dietary Supplement: Nitric oxide supplement;   Dietary Supplement: Placebo
33 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
34 Recruiting Biomarker for Farber Disease
Conditions: Farber's Lipogranulomatosis;   Ceramidase Deficiency;   Farber Disease;   Acid Ceramidase Deficiency;   AC Deficiency
Intervention:
35 Recruiting Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients
Condition: Fabry Disease
Intervention: Drug: PRX-102
36 Recruiting Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Conditions: Mucopolysaccharidosis;   Hurler Syndrome;   Hunter Syndrome;   Maroteaux-Lamy Syndrome;   Sly Syndrome;   Alpha Mannosidosis;   Fucosidosis;   Aspartylglucosaminuria;   Adrenoleukodystrophy (ALD);   Krabbe Disease;   Metachromatic Leukodystrophy (MLD);   Sphingolipidoses;   Peroxisomal Disorders
Interventions: Drug: Campath-1H;   Drug: Cyclophosphamide;   Drug: Busulfan;   Procedure: Allogeneic stem cell transplantation;   Drug: Cyclosporine A;   Drug: Mycophenolate Mofetil
37 Unknown  Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
Conditions: Fabry Disease, Cardiac Variant;   Right Ventricular Hypertrophy
Intervention:
38 Recruiting Muscle Response to Enzyme Replacement Therapy in Pompe Disease
Condition: Pompe Disease
Intervention:
39 Not yet recruiting Diet and Exercise in Pompe Disease
Conditions: Pompe Disease;   Glycogen Storage Disease Type II;   Lysosomal Storage Diseases
Intervention: Other: Diet and Exercise
40 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Biological: HHLivC

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Indicates status has not been verified in more than two years