Inherited GPI deficiency
Conditions
Interventions
Initial dose: pyridoxine 10-15 mg/kg/day 1-2 weeks after the initiation, the dose is increased to maintenance dose, if there is no adverse effect. Maintenance dose: pyridoxine 20-30 mg/kg/day We p
Sponsors
The Graduate School of Medicine, Osaka University
Department of Child Neurology, Tottori University Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) The patients of inherited GPI deficiency diagnosed by FACS analysis of granulocyte or genetic analysis. 2) The patient or his/her guardians approved with the participation in the study after the explanation with informed consent form. 3) There is no restriction about severity or age, if the patient is tolerable for evaluation.
Exclusion criteria
Exclusion criteria: 1) The patients with the past history of hypersensitivity for the agent of vitamin B6. 2) The patients whose doctor in charge considered that the participation was not recommended.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The frequency of seizures during a year after the initiation of the administration Developmental profile during a year after the initiation of the administration | — |
Secondary
| Measure | Time frame |
|---|---|
| MRI finding during a year after the initiation of the administration EEG finding during a year after the initiation of the administration | — |
Countries
Japan
Contacts
Public ContactShin Nabatame
Osaka University Hospital Department of Pediatrics
Outcome results
None listed