Hello MPS II Fund and Trey supporters, YOU did it!!!!! I've said so many times that your donations and support will save boys' lives, I wanted to share this with you. It's for real! Read here for more information: https://www.biospace.com/article/releases/avrobio-expands-lentiviral-gene-therapy-pipeline-with-program-for-hunter-syndrome/?fbclid=IwAR38gjxRLRkcWRXzOzfJk36s_uTpD2GaqUK7Ffy9PqkpCmdwVgiEOjWYnbg Our fundraising and YOUR support in all the multitude of ways has landed in a gene therapy for MPS II
Genetic Condition Caused By Enzyme Deficiency
Missing or deficient enzyme (iduronate-2-sulfatase – I2S) causes cellular waste from the cells to store in the bones, tissues, organs, and muscles. This disease is characterized as a lysosomal storage disorder.
Lysosomal Storage Leads To Progressive Symptoms
Virtually all bones, muscles, organs, and tissues in the body are affected by I2S deficiency, leading to progressive, multi-systemic and debilitating symptoms.
Treatment IS Available
The FDA, the European Commission, and Health Canada have all approved a treatment for Hunter Syndrome. Developed by Shire Pharmaceuticals, this enzyme replacement therapy (ERT) delivers a synthetic version of the I2S enzyme into the bloodstream and helps to dramatically slow down the disease.
Heart and Airway Disease
People suffering from Hunter Syndrome can develop respiratory failure, severe sleep apnea, and upper airway collapse. Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves.
People with Hunter Syndrome may have a wide range of skeletal symptoms. These can include shortened stature, bone deformities, carpel tunnel syndrome, and multiplex dysplasia.
Usually common in the second decade of life, hearing loss can be progressive and severe.
Eye and Vision Issues
While common in many other forms of MPS, it is rare for people with Hunter Syndrome to develop corneal clouding and a debilitating decrease in vision. Night vision can also become an issue for MPS II patients.
Brain and Cognitive Impairment
People with Hunter Syndrome may experience cognitive decline, though it will be difficult to diagnose this impairment until age 4-6. Patients may also suffer from hydrocephalus.
Patients battling Hunter Syndrome often visit numerous specialists to help manage their disease. These can include, but aren’t limited to, MPS Genetics Specialists, Neurologists, Ophthalmologists, Orthopaedic Specialists, Cardiologists, ENTs, Pulmonologists, and Rheumatologists.
In almost all cases of Hunter Syndrome, patients need multiple surgical procedures. These may include skeletal corrections, heart valve replacements, and other procedures.
Studies have shown that endurance of affected individuals is impacted greatly due to the progression of the disease. Endurance has an impact on all facets of life. Recent clinical trials have shown a significant increase in endurance for all patients receiving enzyme replacement therapy.
Hope for Hunter Syndrome Patients and Their Families
In 2006, the first ever treatment for Hunter Syndrome was approved in the US, European Union, and Canada. Elaprase, created by Shire Pharmaceuticals, is a synthetic version of the I2S enzyme that patients are lacking in their blood. This enzyme replacement therapy (ERT) was passed through the approval process in both the US and Canada because of the tremendous unmet need the treatment provided patients.
Clinical trial results were very promising, with patients seeing a sizeable increase in endurance, an excellent indicator for how well the treatment works. Endurance measures how well a patient’s body is performing. From heart to bones to pulmonary function, increased endurance indicates that those systems are working better. Treatment with Elaprase has given new Hope for families dealing with Hunter Syndrome, and has dramatically altered the course of the disease over the past 10 years.Jump To Shire’s Elaprase Information Page
Gene Therapy for MPS II - A Curative Solution?
There are numerous Gene Therapy projects being studied in research labs around the world, with a few promising ones almost ready for clinical trials in humans. These gene therapy approaches to dealing with Hunter Syndrome have been shown to stop and correct the vast majority of symptoms, including cognitive decline, in the lab setting. Contact us directly so we can share any information we have.
Other Innovative Projects
Shire Pharmaceuticals currently has a clinical trial underway that delivers enzyme directly to the brain of patients suffering or at risk of suffering from cognitive decline as a result of the disease. Phase I/II results have looked impressive and a Phase III trial is currently underway.
Hello MPS II Fund and Trey supporters, This update is long overdue and for that, I apologize. I have been thinking about posting an update for a while and have been in talks with folks about fundraisers and events, but this pandemic has made updates tricky as I either haven’t had enough information to share or the information I have
It’s been ages since I last updated on Trey. Fortunately, this is because there’s little to update, at least in the world of Trey combined with MPS II. I read back through my blogs- the last Trey update I gave was in April 2018! Trey has been receiving IV Elaprase since February 2006 and IT Elaprase since October 2011.
Together, We CAN Make a Difference!
The MPS II Fund’s mission is to fund innovative research projects that aim to find a cure for Hunter Syndrome, a rare, debilitating, and devastating disease.
To do this, we host many fundraising events throughout the year and accept donations online and through the mail. We are very proud of the fact that 100% of all donations go directly toward our mission to support research aiming to find a cure. All donations receive a charitable tax receipt, delivered through email.
If you would like to donate online, follow the link below and select “MPS II FUND”.
Thank you for your tireless support!Donate Now!