Development of a stem cell-based therapy to treat cartilage and bone symptoms in Mucopolysaccharidosis type VI
Prof. Dr. Ans van der Ploeg
W.W.M. Pim Pijnappel, Phd
Mike Broeders, MSc
J.P.M. van den Hout, MD, Phd
E. Oussoren, MD. Phd
Krachtbundelsubsidie van Energy4Kids en Stofwisselkracht: €25.000
Start: oktober 2017
Looptijd: 24 maanden
Mucopolysaccharidosis type VI ( MPS type VI ) is a hereditary disease in which patients miss an enzyme essential to break down long chains of sugar molecules (glycosaminoglycans, GAGs) . Due to this missing enzyme, GAGs accumulate inside a part of the cell called the lysosome in connective tissues in the body.
One of the main affected tissues where GAGs accumulate are bone and cart ilage . Even at an early age of life, this often leads to joint and hip disease with wheelchair dependency and the need of orthopaedic surgery . T hese clinical problems have severe impact on the quality of life. The current ly available treatment s seem ineffe ctive in preventing skeletal complications. We aim to develop a new therapy to treat the affected cartilage and bone , with the purpose to improv e mobility , relief pain and increase the quality of life . In our laboratory, we have developed a method to produce the missing enzyme in patient - derived cells , and we aim to transplant these cells into the joints in an animal model as a proof of concept for improving bone and cartilage function.