July 2022 eNews

NEW RESOURCES ADDED TO NORD’S LEARNING PLATFORM

To continue to support the growth of nonprofit organizations, RareLaunch has added new resources to our virtual learning platform!

If you are interested in growing your team and presence, view our letter templates for inviting new board members and medical advisors as well as promoting your organization’s accomplishments to external groups. To boost your advocacy efforts, take a look at our guide on the basics of nonprofit advocacy to understand what is permitted as a 501(c)(3) nonprofit organization.

BABY FORMULA SHORTAGE HIGHLIGHTS NEED FOR CONGRESS TO ACT ON MEDICAL NUTRITION EQUITY

The recent infant formula shortage has left families across America scrambling to find the formula necessary to feed their young children. Unfortunately, the intense stress associated with being unable to access the formula your loved one desperately needs is an all-too-familiar feeling for many people in the rare disease community. While the current supply shortage will eventually be resolved, this will not necessarily address the many barriers to access that rare disease patients often face. Learn more about the importance of medical nutrition to people with rare disorders in NORD’s latest blog.

Now is the time for Congress to take action and ensure patients who rely on medical nutrition are able to access their medically necessary treatment. Reach out to your elected officials NOW and ask that they support the Medical Nutrition Equity Act!

WE DID IT TOGETHER! SENATE USER FEE REAUTHORIZATION LEGISLATION INCLUDES NORD-ENDORSED LANGUAGE CLARIFYING THE INTENT OF THE ORPHAN DRUG ACT

On Friday, June 3, 85 organizations representing patients with rare disorders joined a NORD-led letter that urged Senate leadership to include the Retaining Access and Restoring Exclusivity (RARE) Act, as introduced by Senator Tammy Baldwin, into the FDA Safety and Landmark Advancements Act (FDASLA). We are thrilled to report that your advocacy made a difference, and the RARE Act was added to FDASLA during the HELP Committee markup on Tuesday, June 14. This legislation will provide important clarity on the intent of the Orphan Drug Act and protect innovation and research into rare disease drug development in the years to come. Stay tuned for more opportunities to take action on this important issue as the House and Senate work to reconcile the differences between their user fee act bills.

COLORADO BECOMES 24TH STATE TO ESTABLISH A RARE DISEASE ADVISORY COUNCIL

Governor Jared Polis signed Rare Disease Advisory Council (RDAC) legislation into law on Thursday, June 9, making Colorado the 4th state to establish an RDAC since the beginning of 2022 alone. A huge thank you to all the incredible advocacy efforts of rare disease stakeholders throughout Colorado for helping get this legislation across the finish line! Read more about Colorado’s RDAC efforts here.

FDA News

ACTION PLAN FOR RARE NEURODEGENERATIVE DISORDERS RELEASED

This five-year action plan outlines how the FDA will move forward to speed drug development for rare neurodegenerative diseases, including ALS.

RECENT DRUG APPROVALS

Setmelanotide (Imcivree) has been approved for chronic weight management in adults and children 6 years of age and older with obesity due to Bardet-Biedl syndrome (BBS). This is the first drug approved specifically for chronic weight management in patients with BBS. Imcivree is manufactured by Rhythm Pharmaceuticals, Inc. Read the press release.
Baricitinib (Olumiant) has been approved to treat adult patients with severe alopecia areata. This is the first FDA approval of a systemic treatment for alopecia areata. Olumiant is manufactured by Eli Lilly and Company. Read the press release.

CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY (CIDP)
Janssen Research & Development, LLC is sponsoring a multistage, multicenter, randomized, double-blind study to evaluate the safety and efficacy of nipocalimab in delaying relapse in adults with CIDP. More.

IDIOPATHIC INFLAMMATORY MYOPATHIES
Janssen Research & Development, LLC is sponsoring a phase 2, multicenter, randomized, double-blind, placebo-controlled, parallel-group study to evaluate the safety and efficacy of nipocalimab in patients with active Idiopathic Inflammatory myopathies. More.

MYASTHENIA GRAVIS
Janssen Research & Development, LLC is sponsoring an open-label, uncontrolled, multicenter study to evaluate the pharmacokinetics, pharmacodynamics, safety, and efficacy of nipocalimab in treating children between the ages of two and 18 years old with generalized myasthenia gravis. More.

UPCOMING WEBINAR: A COMMUNITY CONVERSATION ABOUT THE DRUG DEVELOPMENT PROCESS
Date: Wednesday, July 27
Time: 1pm ET
Join NORD and a panel of expert speakers to discuss how new medical treatments are developed and the expanding ways in which patients and patient organizations are contributing to this process. Learn about the five steps in drug development and the roles of patients and caregivers, medical researchers, and regulators. Speakers will share examples of how patients and patient organizations are advancing research on their rare diseases. You will have an opportunity to submit questions both before and during this webinar.

Member News

ASXL RARE RESEARCH ENDOWMENT FOUNDATION

The ASXL Research Symposium will take place from July 21-22 in Los Angeles, CA for researchers and clinicians with an interest in ASXL-related disorders. Be a part of the conversations between individuals studying aspects of the ASXL genes and ASXL syndromes. Learn more.

CACNA1A FOUNDATION

The CACNA1A Community Conference will be held from July 22-23 in San Antonio, TX. This educational conference is for patients, parents, caregivers, clinicians, and researchers. The main objectives will be to impart knowledge of CACNA1A-related diseases, share best practices regarding standards of care, and present recent research advancements and the therapeutic pipeline. Learn more.

CHARCOT-MARIE-TOOTH ASSOCIATION (CMTA)

CMTA recently announced the appointment of Katherine Forsey, PhD to Chief Research Officer. Meet Dr. Forsey on the CMTA staff page. Learn more.

CMTC-OVM

Join CMTC-OVM'S public webinars about vascular malformations! These webinars are monthly and include up-to-date topics and developments in the field of CMTC-OVM. Learn more.

ECD GLOBAL ALLIANCE

The ECD Global Alliance is soliciting Letters of Intent for funding research projects focused on the study of Erdheim-Chester disease and other histiocytic disorders. The maximum amount that can be awarded is up to $50,000 and the duration of the grant is two years. Eligibility requirements: early career investigators and international proposals welcomed. LOI Deadline: Wednesday, July 13. Learn more.

FOUNDATION FOR SARCOIDOSIS RESEARCH (FSR)

Newly diagnosed and long-term sarcoidosis patients, caregivers, family and friends of someone impacted by sarcoidosis are all invited to attend FSR's third annual Virtual Global Patient Summit: Unveiling Possibilities, from July 30-31. Unveiling Possibilities will bring connection, expertise, and shared experiences to help you and your loved ones throughout your sarcoidosis journey. Learn more.

INTERNATIONAL FOUNDATION FOR GASTROINTESTINAL DISORDERS (IFFGD)

Registration for the IFFGD's 2022 Virtual Digestive Health Wellness & Walk Event: A Unique Charitable Event with Achievable Goals for All is now open! Participants will get credit for walking and being active for steps taken during the event. This event will also award points to participants for self-care, wellness, and outreach activities and takes place from July 9-16. Learn more.

INTERNATIONAL PEMPHIGUS AND PEMPHIGOID FOUNDATION (IPPF)

Connect virtually with other patients and caregivers at the IPPF Tri-State NY area virtual support group meeting on Monday, July 11. Living with pemphigus or pemphigoid is hard enough, but when you feel alone it seems even harder. There's something special about connecting with people who really know what you're going through. You are not alone! Learn more.

MITOACTION

Join MitoAction and Dr. Mark Tarnopolsky for the July Expert Series presentation on exercise and nutritional issues in mitochondrial disease on Friday, July 15. Learn more.

NATIONAL ADRENAL DISEASES FOUNDATION (NADF)

Explore NADF’s website for information regarding tests doctors should perform to help diagnose and treat adrenal insufficiency. Learn more.

NATIONAL BONE MARROW TRANSPLANT (NBMT)

NBMT Link has seven seasons of the Marrow Masters podcast series. To date, there have been 12,875 downloads on various topics including chronic and acute GVHD, caregiving, survivorship, clinical trials, psychosocial support before, during and after a transplant, and more. Healthcare professionals as well as patients and caregivers share their passion, wisdom, grit, and determination throughout each season. Learn more.

NATIONAL TAY-SACHS & ALLIED DISEASES ASSOCIATION (NTSAD)

NTSAD is hosting the 44th Annual Family Conference from July 7-10 in Denver, CO for anyone coping with a diagnosis or loss from Tay-Sachs, Canavan, GM1 gangliosidosis, or Sandhoff diseases. The four-day conference provides professional and peer support and the latest updates on research and clinical trials. Learn more.

PARENTS AND RESEARCHERS INTERESTED IN SMITH-MAGENIS SYNDROME (PRISMS)

PRISMS 11th International Conference will be taking place from August 4-6 in Dallas, TX. The International Conference is PRISMS’ premier event and provides information about Smith-Magenis syndrome to patients, families, and professionals. Learn more.

SICKLE CELL DISEASE ASSOCIATION OF AMERICA (SCDAA)

SCDAA will hold its ninth annual Walk with the Stars Fundraiser, where participating teams and individuals can track their time spent walking, running, dancing, or moving while raising funds to support SCDAA in preventing the complications of sickle cell disease through awareness, education, advocacy, and research. Walk with the Stars kicked off on World Sickle Cell Day, Tuesday, June 19, and will culminate into a virtual Walk with the Stars celebration on Saturday, July 30 recognizing participants’ steps and success. Learn more.

SCDAA recently named Reginald Hart Jr. as the Chief Financial Officer. Hart brings more than 20 years of experience in executive leadership, business management, strategic planning, financial operations, contracting, and cost control. Learn more.

SIEGEL RARE NEUROIMMUNE ASSOCIATION (SRNA)

SRNA’S Community Spotlight edition of the “Ask the Expert” podcast series shares the stories of our community members. Ben Harris joined Dr. GG deFiebre of SRNA to talk about his experience with transverse myelitis (TM) as a result of neuroinvasive West Nile virus. They discussed his symptoms and diagnosis, rehabilitation, view of the healthcare system, and philosophy for day-to-day life. Learn more.

The Community Spotlight edition of the "Ask the Expert" podcast series also spotlighted a peer connect volunteer, Paul Garrett, joined Lydia Dubose of SRNA to talk about his experience with TM. Learn more.

SSADH ASSOCIATION

SSADH welcome all patients with succinic semialdehyde dehydrogenase deficiency (SSADHD), along with their families, caregivers, teachers, aids, therapists, researchers, and physicians to engage and give your perspective on daily life with SSADHD at the externally-led patient-focused drug development (EL-PFDD) meeting on Thursday, July 7. Learn more.

UPLIFTING ATHLETES

Uplifting Athletes is excited to announce that the 2023 Young Investigator Grants Request for Applications (RFA) will open on Monday, August 1! Young Investigator Grants fund collaborative basic research in order to positively impact treatments and potential cures for the entire rare disease community. Learn more.