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Trial of Taselisib in Overgrowth

NCT03290092 · Status: TERMINATED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 19

Last updated 2026-02-04

No results posted yet for this study

Summary

Segmental overgrowth disorders are rare conditions characterised by abnormal growth which is usually asymmetric and confined to discrete parts of the body. We and others have identified mosaic activating mutations in the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K; encoded by the PIK3CA gene) in a subset of overgrowth disorders. The PI3K-AKT-mTOR is a critical signalling pathway, which regulates cellular growth, proliferation and survival. Activating mutations in PIK3CA lead to increased activation of the PI3K-AKT-mTORC1 axis, which in turn promotes excessive growth in affected tissue.

The PIK3CA-related overgrowth spectrum is wide, and depends upon the timing of the founder mutation in embryogenesis, and potentially upon the exact mutation. Clinical presentation ranges from isolated enlargement of a digit, to extensive overgrowth of limbs, abdomen and in some cases the brain, and may be accompanied by vascular or lymphatic malformations. Associated morbidity can be profound, with functional impairment, debilitating haemorrhages and thromboses, coupled with neurological sequelae and, in some cases, death. At present, serial debulking surgery is the only available therapeutic option.

The identification of gain-of-function mutations in PI3K has raised the possibility of treatment with drugs that inhibit PIK3CA (the p110 alpha catalytic subunit of PI3K). Taselisib is a selective inhibitor of class I PI3Ks and has direct inhibitory activity of the p110α isoform with a Kiapp value of 0.29 nmol/l.

Conditions

  • PIK3CA-Related Overgrowth

Interventions

DRUG

Taselisib (GDC0032)

The first six participants cohort receive a starting dose of 1mg once daily of taselisib during four weeks.

DRUG

Taselisib (GDC0032)

The starting dose of the second cohort of 24 patients is 2 mg once daily. This dose may be adjusted down according to the pharmacokinetic data or tolerability data derived from the first cohort.

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
16 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-07-31
Primary Completion
2019-02-14
Completion
2019-11-04

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03290092 on ClinicalTrials.gov