535 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Recruiting Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: GZ/SAR402671
22 Recruiting Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
Condition: Urea Cycle Disorders
Intervention: Biological: HepaStem
23 Recruiting Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
Condition: Fabry's Disease
Intervention:
24 Enrolling by invitation A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
Condition: Phenylketonuria
Intervention: Other: Administration of CANTAB and Subject Global Assessment
25 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
26 Enrolling by invitation Testing of Four Home Phenylalanine Monitoring Prototype Devices
Condition: Phenylketonurias
Intervention:
27 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
28 Not yet recruiting Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study
Conditions: Gaucher Disease Type I;   Oxidative Stress
Intervention:
29 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:
30 Recruiting A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
Condition: Niemann-Pick Disease, Type C
Intervention:
31 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
32 Completed Taste Evaluation of Different Liquid Formulations With Eliglustat
Condition: Gaucher Disease
Intervention: Drug: eliglustat
33 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:
34 Not yet recruiting MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
35 Recruiting CPAP for Infantile Pompe Disease
Condition: Pompe Disease
Intervention: Procedure: continuous positive airway pressure
36 Recruiting Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Salbutamol
37 Recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
38 Recruiting A Long-term Study for the Outcome of Pompe Disease
Condition: Pompe Disease
Intervention:
39 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:
40 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

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Indicates status has not been verified in more than two years