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153 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)
Conditions: X-Linked Adrenoleukodystrophy (X-ALD);   Cerebral Adrenoleukodystrophy (CALD);   Adrenoleukodystrophy (ALD)
Intervention: Genetic: Allo-HSCT
22 Recruiting A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
Condition: Cerebral Adrenoleukodystrophy (CALD)
Intervention: Genetic: Lenti-D Drug Product
23 Recruiting Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Condition: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Intervention:
24 Recruiting Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Conditions: Menkes Disease;   Occipital Horn Syndrome
Intervention: Drug: Copper Histidine
25 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
26 Recruiting Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD
Conditions: Argininosuccinate Lyase Deficiency;   Urea Cycle Disorder;   Urea Cycle Disorders, Inborn;   Argininosuccinic Aciduria
Interventions: Dietary Supplement: Neo-ASA;   Dietary Supplement: Placebo
27 Not yet recruiting Search for Serum/Plasma Biomarkers in Pompe's Disease
Conditions: Late Onset Pompe Disease;   Pompe Disease
Intervention: Drug: Enzyme Replacement Agent
28 Not yet recruiting A Study to Assess Safety and Efficacy of NeoGAA Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa
Condition: Glycogen Storage Disease Type II-Pompe's Disease
Interventions: Drug: GZ402666;   Drug: alglucosidase alfa GZ419829
29 Recruiting Krabbe Disease Global Patient Registry
Condition: Krabbe Disease
Intervention:
30 Recruiting Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency
Condition: Ornithine Transcarbamylase (OTC) Deficiency
Intervention: Genetic: scAAV8OTC
31 Recruiting Pompe Telemedicine Developmental Study
Conditions: Pompe Disease;   Glycogen Storage Disease II
Intervention:
32 Recruiting Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Condition: Urea Cycle Disorders
Interventions: Procedure: MRI;   Behavioral: Behavioral
33 Recruiting VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Drug: VAL-1221 3 mg/kg;   Drug: VAL-1221 10 mg/kg;   Drug: VAL-1221 30 mg/kg;   Drug: RhGAA
34 Recruiting A Natural History Study of Canavan Disease
Condition: Canavan Disease
Intervention:
35 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
Intervention:
36 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
37 Recruiting Respiratory Muscle Training in L-Onset Pompe Disease (LOPD)
Condition: Glycogen Storage Disease Type II
Interventions: Device: RMT therapy using modified RMT device;   Device: Sham-RMT therapy using modified RMT device
38 Recruiting Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
Condition: Glycogen Storage Disease Type II-Pompe's Disease
Interventions: Drug: GZ402666;   Drug: alglucosidase alfa (GZ419829)
39 Recruiting Identification of Tongue Involvement in Late-Onset Pompe Disease
Conditions: Myopathy;   Neuropathy;   Glycogen Storage Disease Type II (Late-onset Pompe Disease)
Intervention: Other: Observational study
40 Recruiting Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Condition: Glycogen Storage Disease Type II
Intervention: Other: observation study

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Study has passed its completion date and status has not been verified in more than two years.