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157 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 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
22 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:
23 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
24 Not yet recruiting Search for Serum/Plasma Biomarkers in Pompe's Disease
Conditions: Late Onset Pompe Disease;   Pompe Disease
Intervention: Drug: Enzyme Replacement Agent
25 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
26 Recruiting Krabbe Disease Global Patient Registry
Condition: Krabbe Disease
Intervention:
27 Recruiting Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency
Condition: Ornithine Transcarbamylase (OTC) Deficiency
Intervention: Genetic: scAAV8OTC
28 Recruiting Pompe Telemedicine Developmental Study
Conditions: Pompe Disease;   Glycogen Storage Disease II
Intervention:
29 Recruiting Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Condition: Urea Cycle Disorders
Interventions: Procedure: MRI;   Behavioral: Behavioral
30 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
31 Recruiting A Natural History Study of Canavan Disease
Condition: Canavan Disease
Intervention:
32 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
Intervention:
33 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
34 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)
35 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
36 Recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
37 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
38 Recruiting Natural History and Outcome Measures in Alexander Disease
Condition: Alexander Disease
Intervention:
39 Recruiting First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
Condition: Pompe Disease
Interventions: Drug: ATB200;   Drug: AT2221
40 Recruiting Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
Conditions: Pompe Disease;   Muscle Weakness
Intervention: Other: Resistance Exercise Training

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