Stem cell models of Multiple Endocrine Neoplasia Type1 (MEN-STEM) v1.1
Research type
Research Study
Full title
Investigating Multiple Endocrine Neoplasia Type 1 (MEN1) using patient-derived induced pluripotent stem cells (iPSCs)
IRAS ID
189954
Contact name
Paul Newey
Contact email
Sponsor organisation
University of Dundee
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
4 years, 11 months, 30 days
Research summary
BACKGROUND & RATIONALE: Multiple Endocrine Neoplasia type 1 (MEN1) is an inherited disorder characterized by the development of parathyroid, pituitary and pancreatic neuroendocrine tumours. Individuals who inherit a MEN1 gene mutation are recommended to undergo regular screening with blood tests and scans to detect tumours at an early stage. Pancreatic neuroendocrine tumours (PanNETs) present a particular clinical challenge and are the leading cause of premature death in MEN1 patients. Furthermore, effective medical therapies aimed at preventing or treating such tumours are lacking resulting in significant anxiety for both patients and their families. Currently, it is not understood why individuals with a mutation of the MEN1 gene develop such tumours. Thus, improved laboratory model systems are required to investigate MEN1 gene function and to develop new treatment approaches. OBJECTIVES: To use recent scientific advances to develop specialised cells, known as induced pluripotent stem cells (iPSCs), directly from skin cells from individuals with MEN1. Using recently developed laboratory methods, the iPSCs, which contain the disease relevant MEN1 mutation, will undergo a specialised process known as differentiation, to generate pancreatic endocrine cells. This approach aims to recapitulate the environment within the patient’s own pancreas to investigate the early events in tumour development and to identify new treatment approaches. CLINICAL BENEFITS: The generation of iPSCs from patients with MEN1 offers a unique opportunity to understand the function of the MEN1 gene and to identify the early critical events in PanNET formation as well as other tumour types. In addition, they offer a unique resource for early drug discovery with the potential to identify downstream personalised treatment approaches. In the longer term, these studies may lay the foundation for treatments aimed at tumour prevention in individuals with MEN1.
REC name
East of Scotland Research Ethics Service REC 1
REC reference
15/ES/0159
Date of REC Opinion
19 Oct 2015
REC opinion
Further Information Favourable Opinion