Novel replacement therapy for inherited GPI deficiency

JRCT ID: jRCTs051180113

Registered date:11/03/2019

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Inherited GPI deficiency
• Date of first enrollment: 08/11/2021
• Target sample size: 5
• Study type: Interventional
• Intervention(s): 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 administration is six months in principle.

Outcome(s)

• Primary Outcome: The frequency of seizures
• Secondary Outcome: Neurological findings, Developmental profile, MRI findings, EEG finding

Key inclusion & exclusion criteria

• Age minimum: Not applicable
• Age maximum: Not applicable
• Gender: Both

Include criteria

The patients of inherited GPI deficiency diagnosed by FACS analysis of granulocyte or genetic analysis.
The patient or his/her guardians approved with the participation in the study after the explanation with informed consent form.
There is no restriction about severity or age, if the patient is tolerable for evaluation.
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.

Exclude criteria

The patients with the past history of hypersensitivity for the agent of Folinic acid.
The patients whose doctor in charge considered that the participation was not recommended.

Related Information

• Primary Sponsor: Nabatame Shin
• Source(s) of Monetary Support: Japan Research Foundation for Clinical Pharmacology
• Secondary ID(s): UMIN000030314