Study of galactosidase as therapy for type IV galactosemia

JRCT ID: jRCTs021200008

Registered date:08/06/2020

Basic Information

• Recruitment status: Complete
• Health condition(s) or Problem(s) studied: type IV galactosemia
• Date of first enrollment: 01/03/2020
• Target sample size: 8
• Study type: Interventional

Intervention(s)

Test twice per patient will be performed using crossover technique.
group A: (lactose and galactosidase loading) , followed by (lactose loading)
group B: (lactose loading) , followed by (lactose and galactosidase loading)
Dose of lactose and galactosidase are 1.0 g/kg and 0.05 g/kg, respectively.
Eight cases are devided to group A or B.

Outcome(s)

• Primary Outcome: Blood galactose levels at 2 or 3 hours after lactose loading

Secondary Outcome

Difference between peak level of blood galactose and minimum level of blood galactose after 30 minutes after lactose loading
Peak level of blood galactose
Peak level of urine galactitol

Key inclusion & exclusion criteria

• Age minimum: >= 1age old
• Age maximum: < 10age old
• Gender: Both
• Include criteria: Patients are diagnosed to type IV galactosemia by genetic test (pathogenic variants in GALM gene are identified by exome or direct sequencing) or GALM enzyme activity test.

Exclude criteria

(1) Patients with severe liver disease or liver injury (AST, ALT > 1.25 x upper limits of normal)
(2) Patients have participated to other clinical study or trial
(3) Patients with constipation which is in need of treat
(4) Patients with psychological problem

Related Information

• Primary Sponsor: Kure Shigeo