June 2023 Rare Disease eNews

The evening was filled with unexpected surprises and emotional moments. This included the evening’s emcee, Emmy-award winning journalist and NBC White House Chief News correspondent, Peter Alexander, hosting the event live from his NBC-home studio due to testing positive for COVID-19. Despite this unexpected hurdle, Peter did what the rare disease community does best - he pivoted and persevered reminding everyone in the room of the resilience of the rare disease community. Learn more about this year’s incredible Rare Impact Award recipients.

Highlights include opening remarks by rare disease patient and board member of the Comprehensive Health Education Services Foundation (CHES), Connie Montgomery. Connie shared her story of living with two rare disorders, Factor-VII deficiency and pemphigus vulgaris. Her opening comments sparked togetherness and connectivity for all. The event ended with 17-year old rare disease advocate with Dent disease, Jackson Goodrich, who left us feeling hopeful for the future of scientific innovation and emphasized, "We might be 'Dent'ed, but we are not broken!"

Public comments inform the FDA of the patient perspective and understands how changes to FDA policy will impact the rare disease community. Timely response needed by July 5:

The FDA released a draft guidance titled, “Patient-Focused Drug Development: Incorporating Clinical Outcome Assessments into Endpoints for Regulatory Decision-Making” to describe how patients, caregivers, advocates, and other members in the community can collect and submit patient experience data and other relevant information from patients and caregivers to be used to develop medical products and help regulators with decision-making. Public comments are due by Saturday, July 5, 2023, and we encourage our community to share their experiences. NORD will also provide comments.

Please contact Hayley Mason at hmason@rarediseases.org if you have any questions or would like to share your organization’s perspective or comments with NORD.

Join us for the June meetings of NORD’s Regional Policy & Advocacy Taskforces! These meetings provide a platform for individuals to work with other rare disease advocates in their region to advance policies that benefit the greater rare disease community. The June Regional Taskforce meetings will take place at the time and dates listed below:

Region A: Wednesday, 6/28 at 1 PM MST (12 PM PST)
Washington, Oregon, California, Idaho, Nevada, Utah, Arizona, Montana, Wyoming, Colorado, New Mexico, Alaska, Hawaii

Region B: Thursday, 6/29 at 2 PM CST (1 PM MST)
North Dakota, South Dakota, Nebraska, Kansas, Oklahoma, Texas, Minnesota, Iowa, Missouri, Arkansas, Louisiana, Wisconsin, Illinois

Region C: Monday, 6/26 at 12 PM EST (11 AM CST)
Michigan, Indiana, Ohio, Kentucky, West Virginia, Tennessee, North Carolina, South Carolina, Mississippi, Alabama, Georgia, Florida

Region D: Thursday, 6/29 at 11 AM EST
Virginia, District of Columbia, Maryland, Delaware, New Jersey, Pennsylvania, New York, Connecticut, Rhode Island, Massachusetts, Vermont, New Hampshire, Maine

No prior advocacy experience is necessary to join Taskforce meetings! We will provide you with the training and tools you need to be a successful rare disease advocate. You can learn more about the Taskforces here, then register for a Regional meeting here.

A pressing policy issue that requires timely action from our community is step therapy reform.

What Is Step Therapy?
Step therapy, sometimes referred to as "fail first,” is a process where a health insurance company requires patients to take one or more alternative medications before they can access the medication prescribed by their health care provider. When used inappropriately, step therapy can significantly delay when patients get access to the treatments that work for them, potentially endangering their health.

What Is the Safe Step Act?
The Safe Step Act would protect patients who obtain insurance coverage through private insurance providers by establishing a process to request exemptions from step therapy, mandating certain exceptions to step therapy protocols, and requiring a timeframe for insurance plans to respond to exemption or appeal requests to ensure patients can quickly access the care they need.

Some Good News!
We are excited to share that on May 11, the Safe Step Act bill language made it into the Pharmacy Benefit Manager Reform Act (S. 1339) that was reported out of the Senate Health, Education Labor and Pensions (HELP) Committee. This is one important step towards enacting this into law. On the House side, the Safe Step Act (H.R. 2630) is still awaiting a hearing in the House Committee on Education and Workforce.

More Action Is Needed:
Moving step therapy reform language out of the HELP Committee is a BIG step in the right direction, but there is still much more to be done to bring this over the finish line. Contact your elected officials and urge them to support step therapy reform here.

Praxis Precision Medicines is sponsoring a study to evaluate the safety and efficacy of PRAX-222 in treating pediatric patients aged 2-18 years of age with early-onset SCN2A-DEE. More.        

Praxis Precision Medicines is sponsoring a phase 2, double-blind, randomized study to evaluate the safety, tolerability, efficacy and pharmacokinetics of PRAX-562 in treating pediatric patients aged 2-18 years of age who have seizures associated with early-onset SCN2A-DEE and SCN8A-DEE. More.  

Drug development can be extremely challenging for rare diseases because of small patient populations and a limited understanding of how these diseases can manifest and progress.

The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®) brings together the experiences of patients and the clinical data of researchers to improve our shared understanding of rare diseases and accelerate clinical drug development.

You can learn more and access the platform itself below, and address any questions to rdcadap@cpath.org.

On April 17, NORD’s Running for Rare® fundraising team of 12 runners took their best strides to the streets and the infamous Heartbreak Hill of the 2023 Boston Marathon to raise funds for NORD. More than 50 individuals and families traveled from the greater Boston area as well as Maryland and Colorado to cheer them on at mile 14.6!

This year, NORD’s Running for Rare® program also included a team in the Boston Athletic Association (BAA) 5k. Together, these two groups raised over $90,000 to help support NORD’s mission.

1) Be a Running for Rare Community Partner: We are seeking rare disease patients and/or caregivers to partner with a Running for Rare runner. You will play a supportive and important role by sharing your story and acting as inspiration for your given runner and their fundraising efforts. To learn more contact runningteam@rarediseases.org.

2) Join the Cheer Squad: Live near one of the marathons? Come out and cheer!

3) Running For Rare Fundraising VIP: Become a critical part of the team as a #Running4Rare VIP fundraising team member. We’ll pair you with a runner and you’ll become part of their extended community team to help them fundraise, feel supported and expand awareness for rare diseases.

4) Join Running for Rare...Anywhere! Anyone, anywhere can join a local run and fundraise for NORD!

NHF is thrilled to announce that the 75th Annual Bleeding Disorders Conference (BDC) will take place from August 17 to 19, 2023, in National Harbor, Maryland, at the beautiful Gaylord National Resort & Convention Center! This opportunity is for anyone with any bleeding disorder, not just hemophilia.

Join NHF for three full days of educational sessions, networking opportunities, and access to our exhibit hall. Your registration includes entrance to the Opening Session, Awards Luncheon, and the exciting Final Night Event. We also have an Educational Kids Program available for children 12 years old and younger. Learn more.

The “Community Spotlight” edition of SNRA's “Ask the Expert” podcast series shares the stories of community members. For this episode, Paul Turner joined Dr. GG deFiebre of SRNA to talk about his experience with transverse myelitis (TM). They discussed his initial symptoms and diagnosis, rehabilitation, treatment, and goals. Listen here.

For the episode of “Ask the Expert: Research Edition,” Krissy Dilger of SRNA was joined by Dr. Michael Levy, who gave an explanation of MOG antibody disease (MOGAD) and an overview of CosMOG, an ongoing clinical trial of rozanolixizumab for MOGAD treatment. Listen here.

Krissy Dilger of SRNA was also joined by Dr. Benjamin Osborne for an “Ask the Expert” podcast on “What to Expect Living with NMOSD and MOGAD Long-Term.” Dr. Osborne discussed how he, as a clinician, evaluates a treatment and under which conditions he would recommend a person change or end long-term therapies. Listen here.

The National Foundation for Ectodermal Dysplasias (NFED) is hosting an Advocacy Day on Capitol Hill to advocate for the Ensuring Lasting Smiles Act (ELSA) to federal legislators in Washington, DC from September 18-19! Individuals representing congenital anomalies that would benefit from the passage of ELSA, as well as students, health care providers, researchers, etc., are welcome to join us to share how ELSA would make a positive impact. Legislators need to hear the stories of constituents from their district, so they need individuals from all 50 states to be represented on the Hill this September! Learn more.

duradash® is a community event taking place from May 28–June 10. During these 14 days, the Spinal CSF Leak Foundation is encouraging participants to accomplish a total of 150 minutes of any activity, to be done at anytime, anywhere, in support of spinal CSF leak awareness. Their theme is “start where you are,” and their goal is to have 100 people participate, for a grand total of 15,000 collective minutes by the end of duradash®, all to raise awareness and support research for intracranial hypotension and spinal CSF leak! Learn more.

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Improving the health and well-being of people with rare diseases by driving advances in care, research and policy. Learn more at: rarediseases.org

NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.