176 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting Evaluating the Potential of the Diet as Disease Modifier in Amyotrophic Lateral Sclerosis (JERN_ALS)
Conditions: Amyotrophic Lateral Sclerosis;   Dietary Habits;   Disorder of Fatty Acid Metabolism
Intervention:
22 Recruiting Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Conditions: Metachromatic Leukodystrophy;   Adrenoleukodystrophy
Intervention: Genetic: transduced CD34+ hematopoietic stem cell
23 Not yet recruiting Simplified Diet Approach in Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: Dietary Protein Counting and Free Fruits and Vegetables
24 Not yet recruiting WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)
Conditions: Severe Dystonia;   Wilson's Disease
Interventions: Device: Medtronic, Activa® PC "on";   Device: Medtronic, Activa® PC "off"
25 Recruiting A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
26 Recruiting A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
27 Recruiting Skeletal Response to Eliglustat in Patients With Gaucher Disease
Condition: Gaucher's Disease
Intervention: Drug: eliglustat
28 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
29 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
30 Not yet recruiting Prevalence of Pompe's Disease in Respiratory Clinics
Condition: Pompe's Disease
Intervention: Other: Prospective observational study
31 Recruiting Immune Modulation Therapy for Pompe Disease
Condition: Pompe Disease
Interventions: Drug: Rituximab;   Drug: intravenous immune globulin;   Drug: Bortezomib;   Drug: Methotrexate
32 Recruiting Miglustat on Gaucher Disease Type IIIB
Condition: Gaucher Disease
Interventions: Drug: Miglustat;   Drug: ERT
33 Recruiting Intervention and Outcomes in Duarte Galactosemia
Condition: Duarte Galactosemia
Intervention:
34 Recruiting Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
Condition: Urea Cycle Disorders
Intervention: Biological: HepaStem
35 Not yet recruiting A Study of AEB1102 in Patients With Arginase I Deficiency
Conditions: Arginase I Deficiency;   Hyperargininemia
Intervention: Drug: AEB1102
36 Recruiting Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
Condition: Fabry's Disease
Intervention:
37 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
38 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
39 Recruiting Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study
Conditions: Gaucher Disease Type I;   Oxidative Stress
Intervention:
40 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
Intervention:

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Indicates status has not been verified in more than two years