• Remember all the children and adults who suffer from MPS and related diseases.
• Think about the children we have lost.
• Think about the doctors and scientists who are dedicated to finding a cure for MPS and related diseases.
• Appreciate each other and are thankful for the strength and support we both give and receive.

We honor Dr. Emil Kakkis, who developed Aldurazyme®, the enzyme replacement therapy for MPS I, and whose company, Ultragenyx, today announced a Phase 1/2 study of UX003 for MPS VII. Read the full press release. Read the Q&A with Dr. Emil Kakkis.

Read the full press release.

Read the full press release.

Read the full press release.

SAF-301 is an adeno-associated viral vector serotype rh.10 carrying the human SGSH and SUMF1 cDNAs currently under investigation in a Phase I/II clinical trial (P1-SAF-301) conducted in France.

In September 2010, the European Commission granted SAF-301 orphan designation for the same indication in the European Union.

Orphan Drug Designation is granted by the FDA Office of Orphan Drug Products to drugs intended to treat rare disease or condition affecting fewer than 200,000 people in the U.S. This designation confers special incentives to the drug developer, including tax credits on the clinical development costs, prescription drug user fee waivers and may entitle a period of seven year market exclusivity in the US upon FDA approval.

Read the full press release.

What’s a caregiver?
A caregiver provides regular, consistent care for another person without being paid or requiring something in return. For the BRAVE Awards, a caregiver is defined as a non-professional, and is not someone employed as a professional caregiver or healthcare provider. A caregiver for the BRAVE Awards may be a relative, neighbor or friend who gives their time, support and compassion regularly and consistently to help someone unable to care for him or herself due to health and wellness issues, injury or other extenuating circumstance.

In partnership with Shire Human Genetic Therapies (HGT), Rick Guidotti, founder of Positive Exposure™, traveled around the world photographing people with Hunter syndrome with the hope of increasing awareness for the disorder. Because the signs and symptoms of Hunter syndrome are common to many childhood ailments, it is often difficult to diagnose.

Hunter In Focus provides an opportunity to aid in the recognition of Hunter syndrome in a unique and engaging format. The stories of Hunter patients have been captured and told through these photographs, focusing on the person, rather than defining them by this debilitating disorder.

Shire partnered with Positive Exposure™ on this project to create a deepened sense of community and support among people with Hunter syndrome worldwide, and to reinforce the company’s long-term commitment to the global Hunter community.

The exhibit was launched in 2012 at Grand Central Terminal in New York City and traveled to Poland and Germany in its inaugural year. Check the calendar to see when Hunter In Focus will be coming to an area near you.

Genzyme has introduced Chart Your Own Course, a new program established to help students in the lysosomal storage disorder (LSD) community pursue their educational dreams! Their independent review committee will select eight qualified recipients, who will each be awarded a $2,500 scholarship.

Who Is Eligible?

Anyone living with an LSD — regardless of treatment status — may apply for Chart Your Own Course. Applicants must be U.S. citizens or green card holders who will be full-time students in Fall 2013 at an accredited college, university, or vocational or trade school. Find out more about eligibility.

How Do I Apply?

Visit http://www.ChartYourOwnCourseScholarship.com to get more details and download the application form. You’ll need to gather school transcripts and other details, obtain a personal reference, and write some brief personal statements. Applications are due (must be postmarked) by April 30, 2013, and recipients will be announced in early June.

This is a 24-month study during which 30 pediatric patients worldwide will be enrolled in an effort to identify, document and quantify neurodevelopmental deficiencies. The goal of the study is to help establish the onset of and natural rate of cognitive decline in MPS II patients.

To be eligible, your child must meet the following requirements, as verified by a doctor:

• documentation of a deficiency of the iduronate-2-sulfatase enzyme

• documentation of a normal enzyme activity in another enzyme or documented mutation in the iduronate-2-sulfatase gene

• male, age 2 to 12 years of age

• have sufficient hearing capacity, with or without hearing aids, tocomplete the required protocol tests

Contact one of the study centers listed below if you are interested inhaving your child participate in this study or if you have any questions.

Study Centers

Ann & Robert H. Lurie Children’s Hospital of Chicago, IL
Dr. Barbara Burton
Rachel Katz, MSW, clinical trial coordinator
312.227.6764
rkatz@luriechildrens.org

Children’s Hospital Oakland, CA
Dr. Paul Harmatz
Jacqueline Madden, PNP, clinical trial coordinator
510.428.3885
jmadden@mail.cho.org

UNC Chapel Hill, NC
Dr. Joseph Muenzer
Heather Preiss, RN, clinical trial coordinator
919.843.5731
heather_preiss@med.unc.edu

While Synageva’s MPS III B program is still in the preclinical stages of development, Synageva is aiming to initiate a natural history study in the second half of 2013, and is working toward initiating human clinical studies in 2014.

About Synageva BioPharma Corp.

Synageva is a clinical stage biopharmaceutical company focused on the discovery, development, and commercialization of therapeutic products for patients with life-threatening rare diseases and unmet medical need. Synageva has several protein therapeutics in its drug development pipeline. The company has a team with a proven record of bringing therapies to patients with rare diseases.

Further information regarding Synageva BioPharma Corp. is available at www.synageva.com.

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March 15, 2013

Dear Friends:

Sometimes we forget to shout about the exciting accomplishments that are happening in the Society, happening because of YOU.  Thanks to your donations and fundraising in 2012, the Society’s Board of Directors approved an investment of almost $450,000 in new MPS research funds for 2013, including the following slate of new research grants to be awarded this July.  Each grant is for two years, with half the funding provided in 2013 and the remainder in 2014.

• Two $60,000 grants for general MPS or related disease research
• One $50,000 grant for MPS II research
• One $90,000 grant for MPS III research
• One $60,000 grant for MPS IV research
• One $60,000 grant for MPS VI research

These grants are advertised internationally, and the applications are subjected to a competitive peer review process by experts on our Scientific Advisory Board to ensure that the very best science is funded.

In addition, $35,000 of general MPS research dollars, $10,000 of MPS I research dollars, and $20,000 of ML II/III research dollars are being committed to existing research projects or partnership grants.

Steve Holland and I hosted the Society’s annual Scientific Advisory Board breakfast in conjunction with the World meeting in Orlando a few weeks ago and heard confirmations of the importance of the Society’s research grant program.  Did you know that several of our esteemed researchers got their start from Society research grants?  And now they’re getting major funding from the NIH!  We are recognized globally as an important funding source for MPS research, especially in seed funding and in bridging young researchers into focusing their careers on MPS research.

Did you know that 100% of the money you donate to research goes to research?  I don’t know many organizations that not only say it, but stand by it.  That’s huge.  Plus, you choose where your research dollars go – general research or syndrome specific.

I hope this message puts a smile on your face, because I’m smiling writing it.  It’s important that we celebrate our accomplishments, and you helped bring about this accomplishment. Let’s use this excitement to spur us on to do even more in 2013 – so that we can announce half a million dollars in new research funds next year!

Thank YOU!

Barbara

Barbara Wedehase, MSW, CGC
Executive Director
National MPS Society

Have you had a run in the past and want new ideas for this year’s event? Are you hoping to start a Walk/Run in your hometown? Become part of the Team!

This logo was created by Linda Shine, President Emirita. Linda established the Walk/Run Program
that supports research. The above design is a 10 year tribute of our MPS Angels from 1999 – 2009.

To find out about scheduled races and how to register, check out the Races area of our website.

Debbie said, “I learned so much from other race organizers. None were professional fundraisers, they were committed parents just like me.”For a decade the National MPS Society members, families and friends have committed to Walk/Run fundraisers throughout the country. Each of these events have brought us one step closer to finding treatments and cures for MPS and related diseases. We continue to increase awareness and funds for research by educating one person at a time.

The program continues to be a success year after year. Remarkably, these events have raised over $2,801,000 since they began in 2000. In 2009, 21 Walk/Runs generated approximately $285,000. Whether large or small, each event was successful at raising awareness, reaching out amount the community and involving thousands of people in cities nationwide.

The Society thanks all of the coordinators and many volunteers for their hard work in making each event successful.

Where Do You Start?
The Society provides a comprehensive How To CD with checklists and details for hosting an event. The packet also contains information for securing a place to hold the event, obtaining release of liability forms, Society insurance details, researching the need to have a police officer at the event, handling checks and money, entertainment, and soliciting contributions. If you’re interested in receiving a packet take a moment right now to email terri@mpssociety.org .

The most consistent advice we can pass along from prior Walk/Run organizers is to: “Start early and pull together a group of volunteer organizers you can really depend on.” Talk to your dependable friends and coworkers about getting involved. As Stacy Peters learned organizing the Run for Erin. “You can never have too many volunteers – so delegate specific tasks and get commitments in writing as needed.” Stacy’s daughter Erin has MPS III-B.

Where are Walk/Runs held?
Depending on where you choose to have the event, the specifics about reserving a location vary. In many cases, it is best to reserve your location 6 months in advance. Consider the size of your event, as events have ranged from 20 to over 500 participants. Also, think about the weather in your area and if you need to have shelter or set up tents. Many of the events were held at local high schools that did not charge any money. For one event the park charged $160 but the course was so beautiful participants all plan to return again next year. Often high schools and parks provide seating (bleachers or shelters), parking, and bathrooms without having to close off roads. Consider the pros and cons of each location you consider.

At Nathan’s North Carolina Walk/Run for MPS, the participants enjoyed a beautiful course along the base of the mountains in Boone. The course incorporated nature, bridges and waterways. Whether you walked or ran the 5K, the course was beautiful and was outlined in awareness story boards about MPS and ML.

Kathy Rouch-Sheridan held the Minnesota MPS Fun Run at the lovely wooded Minnehaha Park where the racecourse took participants across a river, under a grape arbor and over a rushing waterfall. Kathy’s son Michael has MPS I.

How does a race make money?
The National MPS Society Walk/Runs are sponsor events – not pledge events. This means that participants are asked to obtain sponsor funds in advance to be turned in on the morning of the race. Many unique ideas were used to raise sponsorship support for the event. The Society has templates families can use to approach local businesses.

Kathy Dobrowolski, whose son Daniel has MPS II, had this advice to add from her experience raising money for Dash for Daniel. “Realize that you will hear a lot of ‘No’s’ as you solicit sponsorship support ? don’t let that get you down. Asking in person makes it harder for people to say no (at least right away)”.

Do we attract national sponsors?
We have attracted a number of national sponsors each year. They are not all inclusive with each event. Ask for corporate donations, but always remember your local vendors too! Many of your local businesses or presenting to the Chamber of Commerce in your neighboring towns will light an ignition.

Do runners get T-Shirts?
The MPS Society provides T-shirts with the current Walk/Run Program logo on the front. Several people use t-shirt space as an incentive for sponsors. For example, if an individual or business donates $500, their logo is put on the sleeve. For donating $250, the logo is printed on the back. Different dollar amounts can also correspond to different logo sizes and placement on the shirts.

Every race is different
Think creatively and the organization will be rewarding and fun.
At Ciara’s Sunshine Fun Run, there was plenty of room for a fire truck and the fire chief was the honorary chairperson. After the race was over, the kids received free truck rides around the track. Alicia Bennett stated, “Kids loved the fire truck and it gave the Chief an opportunity to interact with his community too!”

The Phantom 5K Stroll for Sean got its name because this run takes place only in spirit. Given that October temperatures in Anchorage, Alaska are sub-zero and the ground is covered in snow, running is too dangerous. Ernie and Debbie Dummann, parents of Sean, MPS III-A conducted all the normal run activities like ordering t-shirts, water bottles, assembling runner’s bags, advertising, and writing over 400 letters. But instead of holding a race, they set up a both at a local mall, sold items, and took in more donations. Debbie said, “Sean was present at the registration table in the Mall and he enjoyed all the attention ? especially since we conducted the event on October 13, Sean’s 24nd birthday! Our nonevent attracted over 200 participants.”

Stacy Peters and several other races had help from boy and girl scout troops. Unique to Stacy’s Run for Erin, the scouts organized a tattoo booth where the young and old donated money for temporary tattoos! Stacy added, “Though the event seemed to be enjoyed by all, the one having the most fun was Erin herself. Stationed at a midway point, Erin smiled, clapped and waved to all those who came out to support medical research to find a cure for MPS.” Stacy also placed MPS medallions around the necks of the MPS children who attended the event including Erin Peters, Walker Griffin with MPS III-A, and Savannah and Jennifer Prince, both of whom have MPS I.

Dorothy Mask has coordinated 10 years of Walk/Run events for research. Her son Ryan is now an Angel and suffered from MPS. Dorothy and her family do not worry about how much money they raise or about how many people show up each year. What is important to her is having the opportunity to teach people about MPS. Dorothy continues to fundraise for the National MPS Society because it helps release the feeling of helplessness. It allows her to focus her energy on something positive and it gives her a great deal of satisfaction to know that she is doing something to fight to find a cure for this devastating disease

What happens after a race?
After the event everyone is exhausted. Kathy Dobrowolski reported, “Yes, we collapsed from exhaustion. Didn’t do much of anything the rest of that day or night!” Tami Slawson had the same sentiment stating, “It was like planning a wedding. The greatest day of your life, but totally exhausting!” Tami’s children, Jacob and Samantha, have MPS I.

After recuperating, all of the event organizers sent thank you notes to sponsors and volunteers. Debbie Dummann sent formal letters along with platinum, gold and bronze certificates. Sissi Langford had professionally printed post cards with a picture of her two MPS children, Joe and Maggie, on the front – she hand wrote thank you messages on the back. Stacy Peters printed thank you letters on her home computer and Tami Slawson set up a database for thank you notes and bookkeeping to make the process easier in years to come.

Websites and Online Donations
Through the Races and Registration section of the Society’s website participants can register to participate in the events, donate, and find out additional information about Walk/Run events around the country.

Consider a Run!!!
Won’t you consider organizing an MPS Society Walk or Run in 2006? Linda Shine, mother of Katie who had MPS III-B, is the inspiration behind The National MPS Society’s walk/run. Linda commented on the importance of the MPS Walks and Runs, ” Our goal is to keep growing. We hope all of our efforts will eradicate this disease…. Until then we run, we walk and we work for a cure. Our efforts are paying off. Keep running!”

There really is nothing more important or motivating than finding the cures for MPS and related diseases. We encourage everyone to hold some type of an event in his or her community. Be creative, and most of all, have fun!”

Family Support Programs include: Family Assistance Program, Extraordinary Experiences, Regional Social Gatherings, dues waived program. Please check back often as your Family Support Committee works hard to bring you new programs. If you have a suggestion for a new program, please let us know.

Please use our new online application system for all Family Support Program Applications.  If you are a first time user, please complete the registration process.  Once you are logged in, you will be directed to the applications.  If you have already registered, simply log in.

If you are not able to complete the application using our online application system- please contact Laurie Turner, Program Director at laurie@mpssociety.org or 207.843.7040.

Family Support Programs are for eligible members of the National MPS Society.

Continuing Education Scholarship Program

Post secondary education scholarships are available for individuals with MPS and related diseases, their siblings (under age 30), and their children.  Scholarship applications are available in January.  The application deadline is March 15.  Applications are only accepted using our online application system.

Extraordinary Experiences

A program designed especially for individuals affected with MPS and Related Diseases who are 13 years of age and older. Grants of up to $1000 are available to help individuals have their very own life enriching extraordinary experience. Click here to apply.

Extraordinary Experience Guidelines

Family Assistance Program

Grants for special equipment or medical aids may be requested up to a maximum of $3,000 for parents of an individual with MPS or related diseases or an adult with MPS or related diseases per 12-month period, dependent on available funds and the Committee’s decision. Click here to apply.

Family Assistance Program Guidelines

Membership Assistance Program

Dues can be waived for families experiencing financial difficulties. Complimentary membership is offered to families who have a recent diagnosis and for adults with MPS.  Membership Assistance Program applications can be completed using our online application system.

Medical Travel Assistance Program

Families may need to travel long distances to consult with medical professional who are knowledgeable about MPS and related diseases. The Medical Travel Assistance Program (MTAP) helps fund out of town travel costs for such non-recurring medical appointments. MTAP may reimburse up to $500 per affected individual per 12 month period in transportation costs for member families traveling to a medical appointment more than 200 miles from their home. Click here to apply.

Medical Travel Assistance Program Guidelines

Regional Social Events

We encourage families to arrange social get-togethers for other families in their region. The Society offers grants to help assist with funding of your event.  Click here to apply.

Regional Social Event Guidelines

January 2013: Dr. Edward Schuchman, et al, published an article in PLOS One. The article presents findings in MPS VI rats treated with pentosan polysulfate (PPS) and can be accessed in its entirety here.

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The National MPS Society spoke with Drs. Simonaro and Schuchman who emphasized that they are focusing on safety and dosage trials of Elmiron® in animal models. Statement from Drs. Simonaro and Schuchman:

We are excited by the potential of pentosan polysulfate (PPS) for the treatment of MPS and other lysosomal storage disorders. Our primary goal remains continuing to evaluate the safety and effectiveness of this drug in MPS animal models and the hopeful initiation of clinical trials in MPS patients. Although PPS is approved by the FDA for use in adult women with “painful bladder syndrome” (interstitial cystitis) under the trade name Elmiron®, the appropriate dosing and formulation for MPS remains to be determined. In addition, the safety of the drug has not been studied in children. We will continue to keep the MPS patient community aware of these efforts through updates such as these, and thank you for your interest in our research.

Drs. Simonaro and Schuchman
Department of Genetics & Genomic Sciences
Icahn School of Medicine at Mount Sinai, NY

Update: March 2013 – Their work in MPS VI rats suggests that PPS “could be a simple and effective therapy for MPS that might provide significant clinical benefits alone and in combination with other therapies.”  The full text of the article and a statement by the authors is on our website in the Research section, under “research news”.  The National MPS Society, along with other patient advocacy groups, is in discussion with Janssen Research & Development, LLC, a research branch of Johnson & Johnson which licenses the FDA approved PPS, Elmiron®.  Janssen is establishing a group of MPS experts to begin discussions of the path forward toward a clinical trial.  Janssen has noted that their primary goal is to support patients and that they are open to a clinical trial.

Dr. Mark Haskins with Jean Luc, MPS I cat

The National MPS Society is seeking to fund research projects that would be likely to generate strong preliminary data for major funding in the following areas:

Special consideration will be given to new investigators.

1. The support of basic or clinical research for any MPS syndrome
   • Two (2) $60,000 grants
2. The support of basic or clinical research for MPS II
   • One (1) $50,000 grant
3. The support of basic or clinical research for MPS III
   • One (1) $90,000 grant
4. The support of basic or clinical research for MPS IV
   • One (1) $60,000 grant
5. The support of basic or clinical research for MPS VI
   • One (1) $60,000 grant

Each grant is awarded for two years, with half of total funding provided in 2013 and half in 2014.  Syndrome specific research not awarded funding in its specific category will also be considered for funding within the general MPS funding category.

Requirements:

- Three pages maximum:

- two pages summarizing in a concise manner your specific aims

- one page preliminary budget

- Do not describe the MPS diseases

- Include your name and institution on the right hand corner of each page

Please e-mail a two-page Letter of Intent summarizing the project and a one-page preliminary budget no later than March 18, 2013 to:

Barbara Wedehase, Executive Director
barbara@mpssociety.org

Successful candidates will be invited to submit full proposals for a May 1, 2013 deadline; funding will begin

July 1, 2013. Grants and fellowships from the National MPS Society are provided to qualified medical researchers for the purpose of promoting medical research in the fields of MPS and related diseases.  No institution overhead or other indirect costs will be paid and shall not be included as part of any grant request.  There are no restrictions on citizenship, residency or location of research project.

For additional information contact:
Barbara Wedehase, Executive Director
National MPS Society, PO Box 14686, Durham, NC 27709-4686
phone: 919.806.0101
barbara@mpssociety.org
www.mpssociety.org

New for 2013, the application process will only be available electronically.  Please go to http://mps.onlineapplications.net. You will need to create a user ID prior to beginning the Continuing Education Scholarship application process. If you need assistance with the application process, please contact Laurie Turner, Program Director at laurie@mpssociety.org or 207.843.7040.

Congratulations to the previous recipients of Continuing Education Scholarships from the National MPS Society! Read about the 2011 and 2012 recipients.

The purpose of World Rare Disease Day is to harness the creative energy of the millions of people around the world with rare diseases — as well as that of all the people who care about and assist them — to help others understand certain fundamental issues that need to be addressed.

This year’s theme is “Rare Disorders Without Borders” For more information please visit the US Rare Disease Day website and Global Rare Disease Day website!

The Omni San Antonio Hotel at the Colonnade is alive with the spirit of Texas. This four-diamond, luxury hotel captures the essence of the city with impeccable service and charm. Overlooking the rolling Texas Hill Country, this 19-story high-rise is close to the area’s most exciting sites and attractions such as the historic Alamo, Sea World San Antonio and the enchanting Riverwalk. Saturday has been reserved for families to enjoy Morgan’s Wonderland, the world’s first ultra-accessible family fun park designed with special-needs individuals in mind and built to be enjoyed by everyone. Transportation to the famous San Antonio Riverwalk will be provided as an alternative to Morgan’s Wonderland.

New this year — online conference registration! Pay by credit card: www.etouches.com/mpsfamilyconference

Or fill out the appropriate registration form below and submit a check. Click here for information on our conference scholarship program.

Registration form for Parents or Individuals with MPS and related disease

Registration form for Friends, Relatives, and Professionals

Genzyme 2013 Co-Pay Assistance Program (pdf)

PURPOSE: To provide a showcase for artists affected by rare diseases to express their talent and unique stories

PRIZES: Two Grand Prizes will be awarded in each age group

Children 5-11:   $100 Visa Gift Card

Teens 12-17: $250 Visa Gift Card

Adults 18+: $500 Visa Gift Card

DEADLINE: Entries must be received by 5pm PST on Thursday, February 28, 2013.

For more information visit www.rareartist.org/contest

National MPS Society Video: The Journey of Hope

Take a journey with the National MPS Society.  Help us make a difference in the lives of those affected by these devastating diseases.  This video will encourage family and friends to make a donation for promising research and family support.

Friends:

Elections are over, and it’s time for Congress and the President to return to Washington and get back to work.   And they must act quickly to protect the National Institutes of health (NIH) and the Food and Drug Administration (FDA) from funding cuts that would paralyze the development of treatments for patients with rare diseases, including MPS.

If lawmakers can’t reach a budget agreement, something called sequestration – also called “fiscal cliff” – will happen in January.  If it happens, automatic budget cuts of $1 trillion will go into effect for nearly all government programs, including an 8% cut to both the NIH and FDA.  This will dramatically slow progress towards developments of new treatments and cures for rare diseases, including MPS.

Click here to tell your members of Congress that automatic cuts to NIH and FDA can’t happen.

It’s essential that our members of Congress hear a LOUD and CLEAR message from us that these cuts are unacceptable and would be devastating to our families.  We are approaching this fiscal cliff because lawmakers have been unable to agree on a budget compromise for a year.  Elections are over – tell them to get back to work on saving lives.

Sincerely,

Stephanie

Stephanie Bozarth
Vice President
Chair, Committee on Federal Legislation
National MPS Society
PO Box 14686
Durham, NC  27709
919-806-0101 telephone

P.S.  For more information on Sequestration visit RareAdvocates.org ]]> http://www.mpssociety.org/posts/news/tell-congress-to-protect-the-nih-fda-from-devastating-budget-cuts/feed/ 0 http://www.mpssociety.org/posts/news/biomarin-announces-phase-iii-study-of-galns-for-mps-iv/?utm_source=rss&utm_medium=rss&utm_campaign=biomarin-announces-phase-iii-study-of-galns-for-mps-iv http://www.mpssociety.org/posts/news/biomarin-announces-phase-iii-study-of-galns-for-mps-iv/#comments Mon, 05 Nov 2012 15:45:12 +0000 Terri Klein http://www.mpssociety.org/?p=10831 BioMarin announces Phase III study of GALNS for MPS IV meets primary endpoint”

FLYER (pdf)

When: Thursday, November 1, 2012, 6:00pm

Where: Cafe Napoli 2
1054 Town and Country Crossing
Town and Country, MO

Please RSVP to eortiztoro@shire.com

Flyer (pdf)

Each year families want to raise funds for research and now it is your chance with little effort.  This heartfelt program of hope has raised over $40,000.  We can make a difference together.

For more information visit our SACFAC page

The Society will also fund $25,000 to support the Lysosomal Disease Network’s NIH grant research goals. The funding is designed for the Neuroimaging Core, which will benefit the four MPS projects. An additional $15,000 has been allocated for a mucolipidosis partnership grant with the Gandhi Foundation to Dr. Sara Cathey at Greenwood Genetics Center, “PTC 124 for nonsense mutation suppression in ML II and III cultured fibroblasts.” A $10,000 partnership grant with the Ryan Foundation funded the University of MN project “Brain Structure and Function in Developmentally Normal Children Ages 4-7.” The Society also provides funding for post-doctoral fellows to attend scientific meetings, such as the American Society of Gene and Cell Therapy.

MPS II – two years @ $45,000 each year
Gustavo H.B. Maegawa, MD, PhD
Johns Hopkins School of Medicine, Department of Pediatrics
Baltimore, MD
“Induced-neuronal (iN) cells as tools to study the pathogenesis of neurological manifestations in MPS-II.”

Mucopolysaccharidosis type II (MPS-II) is a genetic disease caused by the inability to breakdown large molecules called glycosaminoglycans. MPS-II is caused by the deficiency of an enzyme located in the lysosome, essential recycling units present in each cell. In MPS-II, the accumulation of undegraded material results in dysfunction of the lysosomes, compromising the entire cells and ultimately multiple organs/systems. The mechanisms how the storage of glycosaminoglycans can severely affect brain causing severe mental disabilities have not been fully elucidated. Using a new technology, we are now able to convert skin cells into

brain cells, called “induced-neuronal cells”. The hypothesis of the project is that the induced-neuronal cells from patients are research tools to study mechanisms causing the neurological problems in MPSII. In this project, I aim to convert skin cells from MPS-II patients into the induced-neuronal cells and determine how they can be used to study brain disease in MPS-II. The results of this project will provide cell-model to study the brain disease in the MPS-II, which can subsequently result in the discovery of novel treatments for the neurological problems commonly seen in affected patients.

MPS IV – two year @ $40,000 each year
Shunji Tomatsu, MD, PhD
Nemours Children’s Clinic – Delaware Valley of the Nemours Foundation
Wilmington, DE
“Development of Long Circulating Enzyme Replacement Therapy for MPS IVA.”

Mucopolysaccharidosis type IVA (MPS IVA) results from a deficiency of the enzyme N-acetylgalactoseamine- 6-sulfate sulfatase. This enzyme is required for the breakdown of complex sugars called “glycosaminoglycans (GAGs).” GAGs are normally found throughout the body, including bones and joints, and are constantly broken down and replaced with new GAGs. In MPS IVA, GAGs cannot be broken down properly, resulting in their abnormal accumulation. Patients with MPS IVA often present with systemic skeletal abnormalities (bone deformities, short stature, and spinal cord compression).

Several treatment strategies for MPS have been tested. These treatments showed limited effect on bone and brain involvement. Recently, an enzyme replacement therapy strategy using modified long-circulating β- glucuronidase on MPS VII mice was shown to almost completely correct brain storage of GAGs and to reduce storage materials substantially in bone. Given the success of this therapy in MPS VII mice, the question of whether the modified enzyme also works to improve bone pathology is of great interest in MPS IVA mice. We have developed an assessment method to evaluate skeletal pathology quantitatively in MPS mice. We expect the new treatment strategy to improve bone lesions in MPS IVA, leading to increased mobility and a better quality of life

MPS III Grand Challenge Grant – multi year $235,000 with support from Team Sanfilippo
Dr. Brian Bigger
Stem Cell & Neurotherapies Group
Manchester, UK
“Evaluation of high dose genistein aglycone in the treatment of mucopolysaccharide disease
types IIIA, B and C.”

If you are interested in this clinical trial or have questions about it, please contact Terence Eagleton, MD Senior Medical Director, BioMarin Europe Ltd., teagleton@bmrn.com, 415.506.3530.

What’s a caregiver?
A caregiver provides regular, consistent care for another person without being paid or requiring something in return. For the BRAVE Awards, a caregiver is defined as a non-professional, and is not someone employed as a professional caregiver or healthcare provider. A caregiver for the BRAVE Awards may be a relative, neighbor or friend who gives their time, support and compassion regularly and consistently to help someone unable to care for him or herself due to health and wellness issues, injury or other extenuating circumstance.

Senate Resolution 450

In honor of International MPS Awareness Day, the National MPS Society is hosting an artwork contest!

Eligible contestants must be an adult or child affected by MPS or related disease and be a current U.S. member of the National MPS Society whose dues are current for 2013. All artwork must be original and created by the entrant. (Parents, siblings or caregiver may assist with the design.)

Visit our Artist Contest Page for more details and to submit your artwork!!

On March 28, 2012, Ultragenyx announced the European Medicines Agency (EMA) granted orphan drug designation for UX003 for the treatment of MPS VII.  See the full press release for more details.

Congratulations to the previous recipients of Continuing Education Scholarships from the National MPS Society! Read more about the 2011 recipients.

26th Annual Family Conference brochure

Registration forms for Annual Family Conference:

• Parents of an individual with MPS or related disease OR Adults with MPS or a related disease
• Friends, relatives and professionals

Registration form for 2nd Annual Finding Our SPIRIT conference

Registration form for 4th Celebrating Your Child’s Life Experience (CYCLE) conference

The Society is pleased to offer scholarships to our conferences. The registration package for the SPIRIT conference includes some travel/hotel funding (see registration form above). However the Annual Family Conference and CYCLE conference require separate applications – see below.

• Annual Family Conference Scholarship Application
• CYCLE conference

1. The support of basic or clinical research for MPS II - One (1) $90,000 two year grant: $45,000 awarded in 2012 and in $45,000 in 2013

2. The support of basic or clinical research for MPS IV - One (1) $80,000 grant: $40,000 awarded in 2012 and $40,000 in 2013

The Society is also offering an MPS III Grand Challenge Grant, to support an MPS III clinical trial, or to study either a therapy or a biomarker that has passed the proof of concept stage but requires further pre-clinical or clinical testing. Biomarkers must be potentially useful in monitoring the therapeutic response in the central nervous system in clinical trials. Proposals for therapies or biomarkers for other MPS and related diseases will be considered, provided they are applicable to MPS III.

• MPS III Grand Challenge Grant with support from Team Sanfilippo - One (1) $235,000 grant: one year

Requirements:

• Three pages maximum:
  • two pages summarizing in a concise manner your specific aims
  • one page preliminary budget
• Do not describe the MPS diseases
• Include your name and institution on the right hand corner of each page

Please e-mail a two-page Letter of Intent summarizing the project and a one-page preliminary budget no later than March 15, 2012 to Barbara Wedehase, Executive Director: barbara@mpssociety.org

Successful candidates will be invited to submit full proposals for a May 1, 2012 deadline; funding will begin July 1, 2012. Grants and fellowships from the National MPS Society are provided to qualified medical researchers for the purpose of promoting medical research in the fields of MPS and related diseases. No institution overhead or other indirect costs will be paid and shall not be included as part of any grant request. There are no restrictions on citizenship, residency or location of research project.

For additional information contact:
Barbara Wedehase, Executive Director
National MPS Society, PO Box 14686, Durham, NC 27709-4686
phone: 919.806.0101
www.mpssociety.org

Your membership brings us another step closer to achieving our goal of ultimately curing the debilitating diseases that affect our families and friends. Together we work to provide support and information to families affected with MPS and related diseases; to increase public and professional awareness of MPS; and most importantly – to further the vital research that adds quality to all our lives.

Become a member to receive benefits and the latest news about the Society, fundraising events, research and more! Sign up online or choose the appropriate membership form below.

2013 Membership for Adults with MPS or Related Diseases
Membership for affected adults in the United States is complementary but must be renewed each year. Follow the link above to submit your renewal online.

2013 Membership Form for Families/Friends, Professionals, Foreign and Corporate memberships. Membership dues are listed on the form and can be submitted to the address below. For parents experiencing financial difficulty, please contact Laurie Turner at laurie@mpssociety.org for assistance with membership dues.

2013 Membership Form for Newly Diagnosed Families The Society provides complimentary first year dues for newly diagnosed families living in the United States. Please submit the form to laurie@mpssociety.org or the address below. Visit our New Diagnosis webpage for additional information on beginning your journey with MPS or related diseases.

Please make checks payable to: National MPS Society
Mail to: MPS Annual Membership, PO Box 14686, Durham, NC 27709-4686

Skeletal Dysplasia and MPS Summer Camp Flyer

Skeletal Dysplasia and MPS Summer Camp Application

Frequently Asked Questions