168 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting Effect of Age on Glucose and Lipid Metabolism
Conditions: Glucose Metabolism Disorders;   Lipid Metabolism Disorders;   Metabolic Diseases
Intervention: Behavioral: Aerobic Exercise
22 Not yet recruiting A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction
Conditions: Pompe Disease;   Hypersensitivity Reaction
Interventions: Procedure: Blood collection for anti-GAA antibody level;   Procedure: Punch Muscle Biopsy;   Behavioral: Survey;   Drug: Zavesca® 100 mg;   Drug: Zavesca® 300 mg
23 Recruiting Tissue Sample Study for Mitochondrial Disorders
Conditions: Mitochondrial Disorders;   Mitochondrial Disease;   Melas;   Kearns Sayer;   NARP;   MNGIE;   LHON;   Mitochondrial Depletion Syndrome;   Leigh's Disease
Intervention:
24 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
25 Recruiting Human Placental-Derived Stem Cell Transplantation
Conditions: Mucopolysaccharidosis I;   Mucopolysaccharidosis VI;   Adrenoleukodystrophy;   Niemann-Pick Disease;   Metachromatic Leukodystrophy;   Wolman Disease;   Krabbe's Disease;   Gaucher's Disease;   Fucosidosis;   Batten Disease;   Severe Aplastic Anemia;   Diamond-Blackfan Anemia;   Amegakaryocytic Thrombocytopenia;   Myelodysplastic Syndrome;   Acute Myelogenous Leukemia;   Acute Lymphocytic Leukemia
Intervention: Drug: Human Placental Derived Stem Cell
26 Recruiting Evaluation of Patients With Liver Disease
Conditions: Biliary Liver Cirrhosis,;   Hemochromatosis;   Hepatitis;   Hepatolenticular Degeneration;   Liver Disease
Intervention:
27 Not yet recruiting ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
Conditions: Movement Disorders;   Essential Tremor;   Holmes Tremor;   Parkinson's Disease;   Wilson's Disease;   Huntington's Disease;   Dystonia;   Tardive Dyskinesia;   Orofacial Dyskinesias
Intervention: Device: Transcranial ExAblate System
28 Recruiting Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients
Condition: Fabry Disease
Interventions: Procedure: Contrast sensitivity measurement;   Procedure: Slit Lamp assessment and intra-ocular pressure measurement;   Procedure: Visual field testing;   Procedure: Oxygen flow at the optic nerve head measurement;   Drug: Tropicamide;   Device: OSOME
29 Recruiting Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Condition: Peroxisome Biogenesis Disorders
Intervention:
30 Recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA);   Late-onset CPS1 Deficiency (CPSD);   Late-onset Ornithine Transcarbamylase Deficiency (OTCD)
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment
31 Unknown  Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
Condition: Pompe Disease
Intervention: Other: Drawing blood spots from Newborns
32 Recruiting Immune Tolerance Induction Study
Conditions: Pompe Disease;   Glycogen Storage Disease Type II (GSD-II);   Glycogenesis 2 Acid Maltase Deficiency
Intervention: Biological: Myozyme (alglucosidase alfa)
33 Recruiting A Mediterranean-style Breakfast and Postprandial Lipid Disorders in Obese Pre-adolescents and Adults
Condition: Obesity
Interventions: Dietary Supplement: Mediterranean-style breakfast;   Dietary Supplement: Western-style breakfast
34 Recruiting Mitochondrial nt3243 A>G Mutation in Taiwan
Conditions: MELAS Syndrome;   Noninsulin-dependent Diabetes Mellitus With Deafness
Intervention:
35 Recruiting Alpha-linolenic Acid and Blood Pressure
Conditions: Hypertension;   Lipid Metabolism Disorders
Interventions: Dietary Supplement: Flaxseed oil;   Dietary Supplement: high oleic sunflower oil (HOSF)
36 Recruiting Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention:
37 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency;   Ornithine Transcarbamylase Deficiency;   Citrullinemia
Intervention: Biological: Human Heterologous Liver Cells
38 Recruiting An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165
Condition: Phenylketonuria
Intervention: Drug: BMN 165
39 Unknown  Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
40 Not yet recruiting A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)
Condition: Late-onset Pompe Disease
Intervention: Procedure: Respiratory muscle strength measurements by different techniques.

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