162 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Not yet recruiting Urease Inhibitor Drug Treatment for Urea Cycle Disorders
Conditions: Ornithine Transcarbamylase Deficiency;   Argininosuccinate Synthetase Deficiency (Citrullinemia);   Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria);   Carbamyl-Phosphate Synthase I Deficiency
Interventions: Drug: Acetohydroxamic Acid;   Drug: Isotopic Intravenous [13C]-Urea
22 Recruiting Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
Conditions: Pompe Disease;   Muscle Weakness
Intervention: Other: Resistance Exercise Training
23 Recruiting Lipidomics and Functional Analyses of Platelets in Fabry Disease
Condition: Fabry Disease
Intervention:
24 Recruiting Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
Conditions: Metabolism, Inborn Errors;   Lipid Metabolism, Inborn Errors;   Carbohydrate Metabolism, Inborn Errors;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);   Carnitine Palmitoyl Transferase 2 Deficiency;   VLCAD Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Multiple Acyl-CoA Dehydrogenase Deficiency;   Carnitine Transporter Deficiency;   Neutral Lipid Storage Disease;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Muscle Phosphofructokinase Deficiency;   Phosphoglucomutase 1 Deficiency;   Phosphoglycerate Mutase Deficiency;   Phosphoglycerate Kinase Deficiency;   Phosphorylase Kinase Deficiency;   Beta Enolase Deficiency;   Lactate Dehydrogenase Deficiency;   Glycogen Synthase Deficiency
Intervention: Other: Sugar
25 Not yet recruiting Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
Condition: Pyruvate Dehydrogenase Complex Deficiency
Interventions: Drug: Dichloroacetate (DCA);   Other: Placebo;   Genetic: Genotype
26 Not yet recruiting Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: arimoclomol;   Drug: Placebo
27 Recruiting SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease
Condition: Gaucher Disease
Intervention:
28 Recruiting A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Dietary Supplement: vitamin D3
29 Recruiting Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
Condition: Gaucher Disease Type 1
Intervention: Drug: N-acetylcysteine
30 Recruiting This Study is to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years
Condition: Gaucher Disease
Intervention: Drug: Velaglucerase alfa
31 Recruiting Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Conditions: Metachromatic Leukodystrophy;   Adrenoleukodystrophy
Intervention: Genetic: transduced CD34+ hematopoietic stem cell
32 Not yet recruiting Simplified Diet Approach in Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: Dietary Protein Counting and Free Fruits and Vegetables
33 Not yet recruiting WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)
Conditions: Severe Dystonia;   Wilson's Disease
Interventions: Device: Medtronic, Activa® PC "on";   Device: Medtronic, Activa® PC "off"
34 Recruiting A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
35 Recruiting A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
36 Recruiting Skeletal Response to Eliglustat in Patients With Gaucher Disease
Condition: Gaucher's Disease
Intervention: Drug: eliglustat
37 Recruiting Study of 2-hydroxypropyl-β-cyclodextrin (VTS-270) to Treat Niemann-Pick Type C1 (NPC1) Disease
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: VTS-270;   Drug: Sham Procedure Control
38 Recruiting The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
Conditions: Gaucher Disease Type 1;   Gaucher Disease Type 3
Intervention: Drug: Velaglucerase alfa
39 Not yet recruiting Prevalence of Pompe's Disease in Respiratory Clinics
Condition: Pompe's Disease
Intervention: Other: Prospective observational study
40 Recruiting Immune Modulation Therapy for Pompe Disease
Condition: Pompe Disease
Interventions: Drug: Rituximab;   Drug: intravenous immune globulin;   Drug: Bortezomib;   Drug: Methotrexate

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Indicates status has not been verified in more than two years