Interventional clinical trials and case series

Currently, no therapeutic interventions are approved for PHTS, however, a limited number of clinical trials have been undertaken using drugs approved for other conditions. Below, we have collected clinical trials and case series in which PHTS or Cowden syndrome patients are/were enrolled.

Active clinical trials

Official title: Phase III multicentric study evaluating the efficacy and safety of sirolimus in Vascular Anomalies that are refractory to standard care (VASE) (NCT02638389)

Status: Ongoing

This phase III, open-label, single-arm trial started in January 2016 aims to enrol 250 patients to evaluate the efficacy and the safety of sirolimus to treat vascular malformations for which conventional therapies are ineffective or are considered high risk. An interim analysis (n=132, three of whom are PHTS patients) reported that sirolimus has a high efficacy and good tolerance in treatment of slow-flow vascular malformations in children and adults.

Queisser et al., 2021; Seront et al., 2023

Completed/terminated clinical trials

Official title: A Pilot Study of Sirolimus (Rapamycin, Rapamune[Registered Trademark]) in Subjects With Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN (NCT00971789)

Status: Completed

The aim of this phase I, open-label, single-arm trial was to inhibit the mTOR pathway and assess the impact on tissues presenting with pathology, including benign as well as malignant tumours. Sirolimus treatment was generally well tolerated in patients (n=18, all of whom had a PTEN germline mutation) with improvements seen in cerebellar function, skin lesions and GI polyps, with tumour assessment showing stable disease in the subset of patients with radiographically measurable disease.

Komiya et al., 2019