182 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
22 Recruiting Skeletal Response to Eliglustat in Patients With Gaucher Disease
Condition: Gaucher's Disease
Intervention: Drug: eliglustat
23 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
24 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
25 Not yet recruiting Prevalence of Pompe's Disease in Respiratory Clinics
Condition: Pompe's Disease
Intervention: Other: Prospective observational study
26 Recruiting Immune Modulation Therapy for Pompe Disease
Condition: Pompe Disease
Interventions: Drug: Rituximab;   Drug: intravenous immune globulin;   Drug: Bortezomib;   Drug: Methotrexate
27 Recruiting Miglustat on Gaucher Disease Type IIIB
Condition: Gaucher Disease
Interventions: Drug: Miglustat;   Drug: ERT
28 Recruiting Intervention and Outcomes in Duarte Galactosemia
Condition: Duarte Galactosemia
29 Recruiting Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
Condition: Urea Cycle Disorders
Intervention: Biological: HepaStem
30 Recruiting Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
Condition: Fabry's Disease
31 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
32 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
33 Recruiting Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study
Conditions: Gaucher Disease Type I;   Oxidative Stress
34 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
35 Recruiting A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
Condition: Niemann-Pick Disease, Type C
36 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
37 Recruiting LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
38 Not yet recruiting MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
39 Recruiting CPAP for Infantile Pompe Disease
Condition: Pompe Disease
Intervention: Procedure: continuous positive airway pressure
40 Recruiting Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Salbutamol

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Indicates status has not been verified in more than two years