The effects of vitamin B6 supplementation in clinical symptoms of patients with mutations in genes involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors

The effects of vitamin B6 supplementation in clinical symptoms of patients with mutations in genes involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors: A pilot study

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

IRCT

Registry ID

IRCT20250624066242N4

Enrollment

Registered

2026-05-14

Start date

2026-06-18

Completion date

Unknown

Last updated

2026-06-01

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

Conditions

Inherited glycosylphosphatidylinositol deficiency (IGDs).

Interventions

Intervention group: a total of six children with a confirmed genetic diagnosis of a mutation in a PIG gene, identified through whole-exome sequencing (WES), will be enrolled and received vitamin B6 tr

Eligibility

Sex/Gender

All

Age

No minimum to 18 Years

Inclusion criteria

Inclusion criteria: Children aged 18 years or younger Confirmed genetic diagnosis of PIG mutation

Exclusion criteria

Exclusion criteria: Lack of cooperation or withdrawal of parental consent during the study Inadequate administration or insufficient therapeutic dosing of vitamin B6

Design outcomes

Primary

Measure	Time frame
Number of seizures. Timepoint: Month 1, Month 6, and Month 12 (three time points for measuring the primary outcome in the study). Method of measurement: Number of seizures recorded by the parents.	—

Secondary

Measure	Time frame
Motor assessment. Timepoint: Month 1, Month 6, and Month 12 (three time points for measuring the primary outcome in the study). Method of measurement: Motor status will be evaluated using the standardized GMFM questionnaire.;Cognitive evaluation. Timepoint: Month 1, Month 6, and Month 12 (three time points for measuring the primary outcome in the study). Method of measurement: Cognitive assessment will be performed using age-appropriate ASQ questionnaires.	—

Measure

Time frame

Motor assessment. Timepoint: Month 1, Month 6, and Month 12 (three time points for measuring the primary outcome in the study). Method of measurement: Motor status will be evaluated using the standardized GMFM questionnaire.;Cognitive evaluation. Timepoint: Month 1, Month 6, and Month 12 (three time points for measuring the primary outcome in the study). Method of measurement: Cognitive assessment will be performed using age-appropriate ASQ questionnaires.

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Countries

Iran (Islamic Republic of)

Contacts

Public ContactMehran Beiraghi Toosi

Mashhad University of Medical Sciences

BeiraghiTM@mums.ac.ir+98 51 3844 0350

Outcome results

None listed

Source: IRCT (via WHO ICTRP) · Data processed: Jun 11, 2026