Grant: Operating Grant: Clinical Trials Projects-Canadian sites of international trials

Mucopolysaccharidoses (MPS) is a group of rare diseases associated with skeletal abnormalities, joint stiffness, short stature, pain, and, in some subtypes, cognitive disabilities. Although treatments have improved life expectancy and cognitive outcomes for some individuals with MPS, additional therapies are needed to reduce pain and improve quality of life. Patients with MPS have high levels of a protein called TNF-alpha, which causes inflammation and joint pain similar to individuals with some types of arthritis. A medication called adalimumab has been shown to reduce TNF-alpha levels, pain and inflammation in patients with arthritis and early studies suggest it may be able to do the same in patients with MPS. There is an existing clinical trial, led from the United States, that is currently investigating whether adalimumab can safely reduce pain and improve quality of life in a small group of patients with MPS. In our study, Canadian patients aged 5 years or older with MPS subtypes I, II, IVA and VI will be invited to join this ongoing trial. Participants will be assigned by random chance to receive either adalimumab or a placebo (a treatment that does not contain any active medication) for 16 weeks. During that time, the participants will not know which treatment (adalimumab or placebo) they are receiving. At the end of 16 weeks, we will compare pain levels between the 2 groups as well as quality of life, joint range of motion, and some additional measures. After 16 weeks, all trial participants, including those who received the placebo, will be invited to receive adalimumab for an additional 16 weeks. This will help us to better understand safety and impacts on pain over a longer period. Including Canadian participants in this trial will enable researchers to more precisely estimate whether adalimumab reduces pain for patients with MPS. A reduction in pain and inflammation is anticipated to provide patients with better quality of life.