163 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
Show Display Options
Rank Status Study
21 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
22 Recruiting Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Genetic: intracerebral administration of AAVrh.10cuARSA
23 Recruiting Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation
Conditions: Fabry Disease;   Cerebrovascular Accident
Intervention: Other: No intervention
24 Recruiting Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Condition: Phenylketonuria (PKU) and Hyperphenylalaninemia
Intervention:
25 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
26 Recruiting Clinical and Basic Investigations Into Erdheim Chester Disease
Conditions: Myelofibrosis;   Gaucher Disease;   Pulmonary Fibrosis;   Hermansky-Pudlak Syndrome (HPS);   Cancer
Intervention:
27 Recruiting Kuvan®'s Effect on the Cognition of Children With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan®
28 Recruiting Biomarker for Glycogen Storage Diseases
Conditions: Fructose Metabolism, Inborn Errors;   Glycogen Storage Disease;   Glycogen Storage Disease Type I;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Glycogen Storage Disease Type VI;   Glycogen Storage Disease Type VII;   Glycogen Storage Disease Type VIII
Intervention:
29 Recruiting A High-Resolution Magnetic Resonance Imaging Study to Evaluate the Effect of Rosuvastatin on Carotid Atherosclerotic Plaques
Conditions: Arteriosclerosis;   Diabetes Mellitus;   Lipid Disorder
Interventions: Drug: Rosuvastatin 5mg;   Drug: Rosuvastatin 20mg
30 Recruiting A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease
Condition: Late-onset Pompe Patients Untreated or Treated With rhGAA.
Intervention:
31 Recruiting Inhibitory rTMS in Dystonic Wilson Patients
Conditions: Wilson Disease;   Movement Disorders;   Repetitive Transcranial Magnetic Stimulation
Interventions: Device: Repetitive Transcranial Magnetic Stimulation (rTMS);   Other: pre and post-rTMS electroencephalogram;   Other: WCRS;   Other: handwriting scale DPRE;   Other: visual analog scale of discomfort writing and parameters collected on touchpad
32 Recruiting Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Condition: Pompe Disease
Interventions: Drug: Clenbuterol;   Drug: Placebo
33 Unknown  The Effect of a Coloring Prompt on Health Engagement
Conditions: In Need of a Pap Smear (Cervical Cancer Screening);   In Need of a Blood Pressure Check (Hypertension Screening);   In Need of a Cholesterol Test (Lipid Disorder Screening);   In Need of a Fasting Plasma Glucose Test (Diabetes)
Interventions: Behavioral: Planning Prompt;   Behavioral: Control Condition
34 Recruiting Pharmacokinetics of Alglucosidase Alfa in Patients Aged 8-18 Years of Age
Conditions: Pompe Disease (Late-Onset);   Glycogen Storage Disease Type II (GSD II);   Glycogenesis 2;   Acid Maltase Deficiency
Intervention: Biological: alglucosidase alfa
35 Unknown  Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children
Condition: Adrenoleukodystrophy
Intervention: Procedure: blood sampling and medical records
36 Unknown  Evaluate the Safety and Exploratory Efficacy of GC1119
Condition: Fabry Disease
Interventions: Biological: GC1119, 0.5mg/kg;   Biological: GC1119, 1.0mg/kg
37 Not yet recruiting MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
38 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
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 Recruiting Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C
Conditions: Gaucher Disease;   Hepatitis C
Intervention:

First Page    Show previous page of results Previous Page (1-20) Studies Shown (21-40) Next Page (41-60) Show next page of results    Last Page
Indicates status has not been verified in more than two years