Study of Efficacy of Sirolimus in Patients with Activated PI3Kdelta Syndrome

Study of Efficacy of Sirolimus in Patients with Activated PI3Kdelta Syndrome - Treatment of APDS with Sirolimus

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000023046

Enrollment

Registered

2016-07-08

Start date

2015-09-25

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

Activated PI3Kdelta Syndrome

Interventions

An initial dose of 0.3 mg per surface area of sirolimus is administered once a day. Dose is adjusted to maintain the blood level at 5-10 ng/ml.

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1) Patients with a diagnosis of APDS 2) Patients with clinical signs of lymphoproliferation as follows, lymphadenopathy hepatosplenomegaly and/or ascites lymphoid follicles in colon with diarrhea and bloody stool

Exclusion criteria

Exclusion criteria: 1) Patients with severe infections 2) Patients with severe thrombocytopenia

Design outcomes

Primary

Measure	Time frame
Reduction of lymphadenopathy, hepatosplenomegaly and lymphoid follicles in colon, due to abnormal activation and proliferation of lymphocytes.	—

Secondary

Measure	Time frame
To assess the improvement in increased susceptibility to infection. 1) immunological test 2) lymphocyte function 3) test for fungal infection 4) test for viral infection (CMV, EBV, HHV, HSV)	—

Countries

Japan

Contacts

Public ContactToru Uchiyama

National Center for Child Health and Development Department of Human Genetics

uchiyama-t@ncchd.go.jp03-3416-0181

Outcome results

None listed

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