Study of galactosidase as therapy for type IV galactosemia

Phase II study of galactosidase as therapy for type IV galactosemia

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

JPRN

Registry ID

JPRN-jRCTs021200008

Enrollment

Registered

2020-06-08

Start date

2020-03-01

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

type IV galactosemia galactosemia: galactose mutarotase: GALM

Interventions

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

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion 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.

Exclusion criteria

Exclusion 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

Design outcomes

Primary

Measure	Time frame
Blood galactose levels at 2 or 3 hours after lactose loading	—

Secondary

Measure	Time frame
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	—

Contacts

Public ContactYoichi Wada

Tohoku University Hospital

wada@med.tohoku.ac.jp+81-22-717-7287

Outcome results

None listed

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