Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting
150 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
Show Display Options
Rank Status Study
21 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:
22 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
23 Recruiting Pompe Telemedicine Developmental Study
Conditions: Pompe Disease;   Glycogen Storage Disease II
Intervention:
24 Recruiting Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Condition: Urea Cycle Disorders
Interventions: Procedure: MRI;   Behavioral: Behavioral
25 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
26 Recruiting A Natural History Study of Canavan Disease
Condition: Canavan Disease
Intervention:
27 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
Intervention:
28 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
29 Not yet recruiting Respiratory Muscle Training in LOPD
Condition: Glycogen Storage Disease Type II
Interventions: Device: RMT therapy using modified RMT device;   Device: Sham-RMT therapy using modified RMT device
30 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)
31 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
32 Recruiting Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Condition: Glycogen Storage Disease Type II
Intervention: Other: observation study
33 Recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
34 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
35 Recruiting Natural History and Outcome Measures in Alexander Disease
Condition: Alexander Disease
Intervention:
36 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
37 Recruiting Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
Conditions: Pompe Disease;   Muscle Weakness
Intervention: Other: Resistance Exercise Training
38 Not yet recruiting Prevalence of Pompe's Disease in Respiratory Clinics
Condition: Pompe's Disease
Intervention: Other: Prospective observational study
39 Recruiting Immune Modulation Therapy for Pompe Disease
Condition: Pompe Disease
Interventions: Drug: Rituximab;   Drug: intravenous immune globulin;   Drug: Bortezomib;   Drug: Methotrexate
40 Recruiting Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
Condition: Urea Cycle Disorders
Intervention: Biological: HepaStem

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.