May 2023 Newsletter

Message from our Family Services Manager

As we wrap up the month of May, we get ready to move into summer and here at NNPDF, that only means one thing… It’s almost conference time! 2023 will not disappoint as being one of the largest conferences yet! We hope your family will be able to attend. Please contact me if you have any questions. Scholarship funding is still available to help with your hotel stay.

Spring and early summer is one of my favorite times of year here at NNPDF, as many are calling to ask questions and gather information regarding conferences, and I love to have the opportunity to catch up and talk with you all! NNPDF’s Family Support & Medical Conference provides a time to connect with others who completely understand the Niemann-Pick Journey – it is a heartwarming and energizing time to be together. I get a lot of questions about our conference and thought it might be helpful share some of the answers with you!

Is the NNPDF Conference family friendly? YES – we encourage entire families to come! The conference provides the opportunity for all to connect, share, and make new friends while attending sessions or Activity Zone.

What is Activity Zone? The easy answer – loads of fun! We have the greatest bunch of volunteers that know and understand both ASMD and NPC and trust me when I say your children will not want to leave. Fun, safe, and supervised entertainment to keep everyone happy!

What should I wear? Plan to dress comfortably and remember a light sweater for the meeting rooms during sessions – hotels tend to be cool! For the Gala we have folks that prefer to go all out and dress in their fancy clothes, and others who wear their normal jeans. The best part is – whatever works for you is okay! (Remember to wear comfy shoes on Saturday night so you can dance the night away!)

Should I bring my children to the Saturday Night Gala Dinner? YES! Activity Zone works hard all weekend for some special gala dinner entertainment you won’t want to miss – also the fun and dancing is the best.

Spring and Summer time also means time for special occasions and other milestones. Does your family have a special occasion to share with us? Graduations, weddings, school awards, dance recitals etc., we want to help share with everyone. Please email photos and details of your special event or milestone to nnpdf@nnpdf.org.

Also, please remember to touch base if you have any questions about the Family Assistance and Support Program that offers help to eligible NNPDF U.S. member families facing a financial obstacle. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills, adaptive home repairs, and more.

Looking forward to seeing your family in Florida if you are able to come – and always here to connect anytime!

Warm Regards,

Laurie Turner
NNPDF Family Services Manager

July 20 – 22, 2023 | Wyndham Grand Bonnet Creek| Orlando, Florida | nnpdfconf.org

NNPDF Family Advisory Working Groups

Application Deadline May 31st

NNPDF Family Advisory Working Groups will take place on Thursday, July 20th from 1:00 – 4:00 pm EST prior to the start of our Family Support & Medical Conference in Orlando.

If you have any questions about or are interested in participating in our Family Advisory Working Groups, please reach out to Laurie Turner at lturner@nnpdf.org or call 877-287-3672.

Conference Accommodations

Reserve by June 15th

NNPDF group rate will be available until June 15, 2023. NNPDF Group Rate is $159. Total cost including taxes is $178.88 per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.

Conference Registration

Register by June 28th

Included with your registration is a complimentary 2023 NNPDF Family Support & Medical Conference shirt! Register by June 28th to ensure your shirt will be waiting for you at the conference!

Family Support & Medical Conference

Keynote Address Speaker Announcement

We are pleased to announce Dr. Klaus Romero, Chief Science Officer, Critical Path Institute (C-Path) as our keynote address speaker at our upcoming 31st Annual Family Support & Medical Conference!

Dr. Romero is a clinical pharmacologist and epidemiologist with experience in academic and pharmaceutical clinical research, translational sciences, pharmacometrics, modeling and simulation and pharmacoepidemiology. As a creative clinician scientist, Dr. Romero combines collaborative leadership skills with integrative scientific thinking to make the drug development process more efficient.

We look forward to seeing you in Orlando! Register today!

NNPDF In Action

NORD Impact Awards
Justin Hopkin and Garrett had the privilege of representing the ASMD community at the National Organization for Rare Disorders Rare Impact Awards in Washington DC. Garrett had the distinct honor of presenting Sanofi with the Industry Impact Award. Sanofi partnered with the Niemann-Pick community for two decades to translate promising science into an FDA-approved therapy. We are thankful for Sanofi’s commitment to rare diseases and providing life-changing therapies to patients in need.

Pictured: Bill Sibold, Executive Vice President, Head, Specialty Care at Sanofi, Garrett Hopkin, and Justin Hopkin.

World Orphan Drug Congress USA
NNPDF Executive Director, Joslyn Crowe, recently moderated a panel discussion at World Orphan Drug Congress USA entitled “Intersection of data providers and rare disease patient groups – How can providers and advocacy groups work more effectively together to benefit rare disease patients”. Panelists Tricha Shivas, Connie Lee, and Elizabeth Ottinger shared valuable insights into opportunities and barriers that exist for data usage by patient groups and what types of collaborative efforts may benefit drug development overall.

The World Orphan Drug Congress brings together leading pharmaceutical and biotech companies, government and regulatory authorities, patient advocacy groups, payers, investors, and solution providers to meet and brainstorm ways to advance orphan drug development and improve access to life-saving therapie

Congratulations Christopher Sousa

Congratulations to Christopher Sousa on his upcoming graduation from the University of California, Davis with a Bachelor of Science degree majoring in Biochemistry and Molecular Biology, along with minors in Global Disease Biology and Latin American & Hemispheric Studies. Christopher hopes to help further Niemann-Pick disease research in the future, honoring his brother Connor and a young cousin with NPC, and all those affected by Niemann-Pick disease.

We were happy to honor Christopher as our NNPDF Cora Sterling Endurance Award recipient at our 2022 Family Support & Medical Conference. Congratulations to you Christopher – well done and we wish all the best in your bright future!

RARE Act

NNPDF is among 78 organizations that joined in support of S. 1214, the Retaining Access and Restoring Exclusivity (RARE) Act, as introduced by Senator Tammy Baldwin, in the upcoming markup for HELP Committee consideration. The RARE Act would maintain the original intent of the Orphan Drug Act, making clear that orphan drug exclusivity is tied to the approved indication, while ensuring proper incentives remain in place to ensure that robust rare disease drug development continues for all rare disease patients.

Read the RARE Act letter of support.

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

NPC Clinical Severity Scale (NPCCSS)

NPC Survey Opportunity: Are you an individual with NPC or the dedicated caregiver of an NPC patient? Are you 18 years old or above? We invite you to join an exclusive interview study! Your valuable insights will help enhance a questionnaire that assesses the severity of symptoms in NPC patients.

As a token of appreciation, you will receive a $10 Amazon gift voucher for your time and contribution! Rest assured, this study has obtained ethical approval from Aston University and is part of an ongoing PhD project.

To learn more, simply click this link: t.ly/NPCCSS-2023 or reach out to Jackson Pountney via email at 200216137@aston.ac.uk

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Cyclo Therapeutics Update:
We are continuing our Phase 3 study TransportNPC™ (Intravenous 2-hydroxypropyl-ß-cyclodextrin), to evaluate the safety and efficacy of a potential disease modifying therapy to treat NPC. This is the most extensive and advanced study underway in NPC and we are pleased to let you know that we are approximately 50% enrolled, and on track to complete enrollment by the end of this year. Read complete update.

Cylco Therapeutics Update: In Cyclo Therapeutics’ May newsletter, Senior Medical Science Liaison, Joseph Mejia, MD shares an update on Phase 3 Study home infusion availability, along with a “get to know” spotlight of our very own Laurie Turner, NNPDF Family Services Manager. Read more.

Azafaros Update: Azafaros has announced that the first US site for the Phase II RAINBOW study, led by Dr. Marc Patterson has received Institutional Review Board (IRB) approval. The clinical trial (NCT05758922) is being conducted in the US and Brazil with its lead asset, AZ-3102, in patients with Niemann-Pick Type C and GM2 gangliosidosis. Read the press release and RAINBOW Study Q & A.

Community News Updates

The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.

Letter to the International NPC Community Introducing Bloomsbury Genetic Therapies: We are happy to share the following open letter to the International NPC community on behalf of Adrien Lemoine, co-founder & CEO of Bloomsbury Genetic Therapies, introducing Bloomsbury and sharing their plans and progress in developing a new gene therapy treatment for NPC. Read the Open Letter to NPC Community and the press release.

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at familyservices@nnpdf.org for any questions.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038