175 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
Condition: Fabry's Disease
22 Recruiting Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Conditions: Fabry's Disease;   Chronic Pain
Intervention: Genetic: Diagnosis of Fabry disease
23 Recruiting Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
Condition: Phenylketonuria (PKU)
Interventions: Dietary Supplement: Phenylketonuria-type diet;   Other: Normal (control) diet
24 Not yet recruiting Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study
Conditions: Gaucher Disease Type I;   Oxidative Stress
25 Recruiting Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
26 Recruiting A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
Condition: Niemann-Pick Disease, Type C
27 Not yet recruiting Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine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
28 Recruiting LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
29 Not yet recruiting MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
30 Recruiting CPAP for Infantile Pompe Disease
Condition: Pompe Disease
Intervention: Procedure: continuous positive airway pressure
31 Recruiting Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Salbutamol
32 Recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
33 Recruiting A Long-term Study for the Outcome of Pompe Disease
Condition: Pompe Disease
34 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
35 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
36 Recruiting A Pilot Study of Pyridostigmine in Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Pyridostigmine Bromide
37 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
38 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
39 Recruiting The Metabolic Effect of Walnuts in Healthy Subjects
Condition: Lipid Metabolism Disorders
Intervention: Other: walnuts
40 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

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Indicates status has not been verified in more than two years