Dear Parents/Guardians,

There have been excellent scientific breakthroughs with regard to the SUMF1 gene that is deficient in MSD. The condition itself is still not curable now but there is initiative research projects that could lead to possible therapeutic approaches to potentially treat or maybe even cure Multiple Sulfatase Deficiency.

MSD Action Foundation (a registered charity) was established in March 2015 to promote and support research that will lead to positive clinical outcomes to help improve quality of life for patients suffering from MSD. With extensive help from clinical experts on MSD in creating this dedicated patient registry and the potential of your input we expect to achieve our goals. We have identified approximately 40 living patients with MSD, more than experts believed, together we can succeed in defeating MSD.

MSD Action Foundation’s no.1 target to begin with was to raise funds to initiate research as soon as possible. We have raised over €600,000 Euro since April 2015 and we will continue with our efforts to raise funds. In addition to this a family of a child in the USA has just received approval for a 501c3 foundation in the USA. They have raised over $60,000 for MSD research to date.

Our no.1 target now is to establish an excellent quality patient registry. A dedicated patient registry will be vital to be able to use the funds raised in the most effective way and to access research grants that may be available. Experts suggest that an MSD registry will play a pivotal role for clinical trials once a very good therapeutic approach has been identified & proven as much as possible.

Some drugs are being tested on MSD skin cell fibroblasts in Germany at present. We hope to have a result on these tests early in 2017. It could end up being a real therapeutic approach to treat MSD patients. The drug in test has proven to clear cells in a similar condition and also has evidence of crossing the blood brain barrier by up to 38%. Patient data is essential for this or any other possible treatment otherwise it may NEVER happen in humans. Without a good quality patient registry, grants for research and getting pharma companies on board for a rare condition like MSD will be next to impossible.

Now it’s up to you? We need you to click ‘Enrol MSD Patient’ and submit your basic information so we can send you an enrolment pack. The registry will consist of a series of questions that will give a clear picture of the current clinical condition and past history of your child. You will also need a copy of the lab report you received with the diagnosis. This will give the gene mutations that your child carries.

The de-identified information collected and compiled by the registry belongs to the Multiple Sulfatase Deficiency community. Multiple Sulfatase Deficiency Action Foundation, through The Multiple Sulfatase Deficiency Patient Registry are the guardians of the information contained within the registry. We will safeguard this data and we will provide verified researchers with anonymised data in order to help initiate research on many levels.

Kind regards,
Alan Finglas
President of- MSD Action Foundation
Dublin, Ireland