Trial of lactose supplementation in CDG

JRCT ID: jRCTs061200059

Registered date:04/03/2021

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Congenital disorder of glycosylation
• Date of first enrollment: 13/06/2021
• Target sample size: 5
• Study type: Interventional
• Intervention(s): Administration of lactose hydrate.

Outcome(s)

• Primary Outcome: Differences of frequencies of epileptic seizures between baseline and 52 weeks later.

Secondary Outcome

Variabilities of
1) Epileptic seizures
2) Scores of Nijmegen Pediatric CDG Rating Scale
3) Interictal epileptiform discarges in EEG
4) Serum galactosylglycan

Key inclusion & exclusion criteria

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

Include criteria

Patients with
1) CDG having the mutation in one of the genes of SLC35A2, PGM1, SLC39A8, or TMEM165.
2) At least one epileptic seizure 28 days prior to the drug administration.

Exclude criteria

Patients with
1) Dairy allergies.
2) Lactose intolerance.
3) Diabetes mellitus.
4) Severe liver, renal, or cardiac dysfunction.
5) Pregnancy or nursing.
6) Participating in other clinical trials or stidies within three months before enrollment.
7) Judgement to be ineligible for trial.

Related Information

• Primary Sponsor: Maegaki Yoshihiro