Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...
152 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
Show Display Options
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 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
25 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
26 Not yet recruiting Search for Serum/Plasma Biomarkers in Pompe's Disease
Conditions: Late Onset Pompe Disease;   Pompe Disease
Intervention: Drug: Enzyme Replacement Agent
27 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
28 Recruiting Krabbe Disease Global Patient Registry
Condition: Krabbe Disease
Intervention:
29 Recruiting Pompe Telemedicine Developmental Study
Conditions: Pompe Disease;   Glycogen Storage Disease II
Intervention:
30 Recruiting Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Condition: Urea Cycle Disorders
Interventions: Procedure: MRI;   Behavioral: Behavioral
31 Not yet recruiting VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Drug: VAL-1221 1 mg/kg;   Drug: VAL-1221 3 mg/kg;   Drug: VAL-1221 10 mg/kg;   Drug: RhGAA
32 Recruiting A Natural History Study of Canavan Disease
Condition: Canavan Disease
Intervention:
33 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
Intervention:
34 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
35 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
36 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)
37 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
38 Recruiting Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Condition: Glycogen Storage Disease Type II
Intervention: Other: observation study
39 Recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
40 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given

First Page    Show previous page of results Previous Page (1-20) Studies Shown (21-40) Next Page (41-60) Show next page of results    Last Page
Study has passed its completion date and status has not been verified in more than two years.