Novel replacement therapy for inherited GPI deficiency (IGD)

Novel replacement therapy for inherited GPI deficiency (IGD) - Novel replacement therapy for inherited GPI deficiency (IGD)

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000030314

Enrollment

Registered

2018-01-15

Start date

2019-04-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Inherited GPI deficiency

Interventions

Folinic acid 1mg/kg/day in three divided dose to start. If the 5-MTHF concentration in cerebrospinal fluid will be low after one month, folinic acid will be uo to 2-5mg/kg/day.The period of administra

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. 4) If he/she is enrolled in "Interventional study of vitamin B6 for inherited GPI deficiency", he/she can enroll in this study after 3 months of end of previous study.

Exclusion criteria

Exclusion criteria: 1) The patients with the past history of hypersensitivity for the agent of Folinic acid. 2) The patients whose doctor in charge considered that the participation was not recommended.

Design outcomes

Primary

Measure	Time frame
The frequency of seizures	—

Secondary

Measure	Time frame
Neurological findings Developmental profile MRI findings EEG finding	—

Countries

Japan

Contacts

Public ContactShin Nabatame

Graduate School of Medicine, Osaka University Department of Pediatircs

nabatames@ped.med.osaka-u.ac.jp06-6879-3932

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026