171 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Not yet recruiting Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
Condition: Wilson Disease
Intervention: Drug: trientine dihydrochloride
22 Recruiting LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
23 Not yet recruiting MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
24 Recruiting CPAP for Infantile Pompe Disease
Condition: Pompe Disease
Intervention: Procedure: continuous positive airway pressure
25 Recruiting Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Salbutamol
26 Recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
27 Recruiting A Long-term Study for the Outcome of Pompe Disease
Condition: Pompe Disease
Intervention:
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 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
30 Not yet recruiting A Pilot Study of Pyridostigmine in Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Pyridostigmine Bromide
31 Recruiting Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Other: Thoracic MRI;   Other: Spirometry;   Other: Inspiratory Load Compensation;   Other: Maximal Inspiratory Pressure;   Other: Resting Breathing Pattern;   Other: Respiratory Muscle Endurance Test
32 Recruiting Response to Diaphragmatic Pacing in Subjects With Pompe Disease
Condition: Pompe Disease
Interventions: Other: Pulmonary function testing;   Other: Resting breathing pattern;   Other: Respiratory muscle endurance test;   Other: Phrenic nerve stimulation;   Other: Maximal inspiratory pressure;   Other: Forced expiratory testing;   Other: EMG
33 Recruiting Distal Thigh Study
Condition: Body Fat Disorder
Intervention: Device: The ZELTIQ System
34 Recruiting The Metabolic Effect of Walnuts in Healthy Subjects
Condition: Lipid Metabolism Disorders
Intervention: Other: walnuts
35 Recruiting Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
36 Recruiting Genes Involved in Lipid Disorders
Condition: Dyslipidemia
Intervention:
37 Recruiting Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Condition: Urea Cycle Disorders
Intervention:
38 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
39 Recruiting Biomarker for Mucolipidosis Disorder Type I, II, III or IV
Conditions: Mucolipidosis Type I;   Mucolipidosis Type II;   Mucolipidosis Type III;   Mucolipidosis Type IV;   Mucolipidosis
Intervention:
40 Recruiting Biomarker for GM1/GM2 - Gangliosidoses
Conditions: Gangliosidosis;   GM1-Gangliosidosis;   GM2-Gangliosidosis;   Hexosaminidase Activator Deficiency;   Tay-Sachs Disease, AB Variant;   Hexosaminidase A and B Deficiency;   Sandhoff Disease
Intervention:

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Indicates status has not been verified in more than two years