Sampling skin from a child with PTEN hamartoma tumour syndrome v1
Research type
Research Study
Full title
INVESTIGATING THE CELLULAR BASIS OF NEUROLOGICAL DISORDERS (HMR code 21-506).
IRAS ID
313985
Contact name
Mustafa Sahin
Contact email
Sponsor organisation
Boston Children's Hospital
Eudract number
0000-000000-00
Duration of Study in the UK
0 years, 5 months, 1 days
Research summary
Research Summary:
The only UK participants in this research study are a father and his 11-year old son with PTEN Hamartoma Tumour Syndrome (usually shortened to PHTS), which is a rare genetic condition that causes an increased risk of certain cancers, benign growths, and neurodevelopmental disorders. It affects about 200-300 people in the UK. PTEN is a gene that prevents cells from growing out of control and becoming tumours. There is an unmet treatment need for PHTS.
Before the start of the covid-19 pandemic, the father, who does not have PHTS, attended Boston Children’s Hospital (BCH), USA, for his child’s care. They were scheduled to visit BCH again for each of them to have a skin biopsy (sample), but they could not do so during the pandemic because of restricted international travel. Although they are now free to travel to the USA, it’s much more convenient for a paediatric dermatologist (skin expert) to obtain the biopsies here in the UK and courier them to the USA.
HMR, a London-based contract research organisation, has agreed to organise the biopsies and provide the out-patient facilities. PTEN Research (a charity) is supporting the study by acting as a ‘go between’ for the two participants, BCH, and HMR. BCH will provide the biopsy kit and fund the study, PTEN Research will fund the collection of the sample at HMR and the cost of transferring the sample to BCH.
We hope that the skin biopsy samples will help develop treatments for PHTS and other neurological disorders.
The participants will make up to 3 outpatient visits during this study, which will take up to 1 month to complete.
Summary of Results:
: The study was not a clinical trial but a basic science study involving procedures with human participants. The study involved the creation of two induced pluripotent stem cell (iPSC) lines for further research. The stem cells will be made available through a third-party cell repository for future use by qualified researchers in line with the study protocol and participant consent.
REC name
South Central - Oxford A Research Ethics Committee
REC reference
22/SC/0147
Date of REC Opinion
31 May 2022
REC opinion
Further Information Favourable Opinion