2022 Dup15q Advocacy in Action

• CDC Coalition: Dup15q Alliance joins the 156 members of the CDC Coalition and other supporting state, national and academic organizations to urge the Appropriates Committee to include at least $10.45 billion for the Centers for Disease Control and Prevention’s programs in any final FY 2023 Labor, Health and Human Services, Education and Related Agencies appropriations bill.  Strong funding for CDC is critical to supporting all of CDC’s activities and programs, which are essential to protect the health of our communities. Due to years of underfunding, many CDC programs have not received the resources that are needed to address the many health challenges we face as a nation, resulting in many of CDC’s most effective prevention programs not reaching all states and communities

 

• Federal Investment in Epilepsies: Dup15q Alliance is proud to join 225 organizations and individuals in signing a letter to President Biden, encouraging him to increase federal attention to and investment in the vast array of epilepsies that together are among the most common conditions affecting the brain.

 

• FY23 Epilepsy Conference Appropriations Letter: Dup15q Alliance joins with over 30 organizations in a letter to the US Committee on Appropriations showing our support of the House recommendation to increase the Centers for Disease Control and Prevention’s (CDC’s) Epilepsy Program to $13 million in the Labor-HHS-Education bill. We are hopeful that this funding level can be maintained during final negotiations. This increase will significantly advance public and provider awareness and improve care for the epilepsy community through meaningful investments in successful public health activities.

 

• Nondiscrimination in health insurance coverage and other health-related coverage: Dup15q Alliance joined over 80 organizations in signing a letter to the HHS Office for Civil Rights commenting on the proposed rule implementing Section 1557 of the Affordable Care Act. ​The groups support a comprehensive proposed rule seeking to strengthen civil rights protections in federally funded health programs and HHS programs and agreed that the ability to access needed health care fully and free from discrimination is critical and requires action to support and strengthen existing nondiscrimination laws.

 

• Texas Newborn Screening Legislation: Dup15q Alliance joins the Everylife Foundation and Texas Rare Alliance in support of HB109 and SB 242.  Modernizing newborn screening legislation to align Texas with the federal Recommended Uniform Screening Panel (RUSP) to ensure all federally recommended conditions are added to the screening panel in a reasonable amount of time provides a thoughtful approach to expanding newborn screening in Texas. The RUSP is periodically updated using a thorough, science and evidence-based deliberative review process involving a national committee of experts in newborn screening. This legislation would allow Texas to efficiently add new conditions by taking advantage of the work done by these medical experts at the federal level to remove obstacles to needed testing and minimizing the irreversible disease progression and loss of life that comes from untreated diseases. States like Georgia, North Carolina, Arizona, and California have passed similar legislation and each time it has had overwhelming bipartisan support.

 

• Medicare and Medicaid Programs: Dup15q Alliance joins organizations in the Haystack Project in a letter urging  CMS to ensure that Medicare’s rare disease patients retain access to telemedicine options for care/consultation from distant specialists. Haystack strongly supports continued access to telemedicine as an option that patients can choose in consultation with their clinicians. For rare and ultra-rare disease patients, telehealth services have proven to be a valuable adjunct to in-person visits throughout the COVID-19 pandemic. Audio-only and audiovisual visits initiated from the patient’s home have enabled broader access to a continuity of coordinated care that includes disease-specific expertise from local specialists as well as those outside the patient’s geographic area without the burden of travel. For many patients and their families, telemedicine has offered increased convenience and incrementally decreased the burden families face in caring for an individual with a serious rare condition.

 

• Defense Health Research Programs: Dup15q Alliance joins over 45 organizations in a letter to House and Senate Leadership urging them to work towards the enactment of the fiscal year 2023 Defense Appropriations Act, to ensure full funding levels for the Defense Health Research Programs, including the Congressionally Directed Medical Research Programs (CDMRP). Failure to enact a fully-funded fiscal year 2023 budget will compromise the ability of scientific laboratories across the U.S to effectively plan and prepare the highest quality grant applications, potentially diminishing opportunities to maintain discovery-based research programs and disrupting critical scientific workforces.

 

• Federal Food, Drug and Cosmetic Act (FFDCA) and a full five-year reauthorization of the programs listed in Section F, Title V of H.R. 6833: Dup15q Alliance joins NORD along with 126 advocacy organizations in urging our congressional leadership to include a full five-year reauthorization of the programs listed in Section F, Title V or J.R. 6833 (Title V Programs), of the Continuing Appropriations and Ukraine Supplemental Appropriations Act of 2023 and to include important reforms to the Federal Food, Drug and Cosmetic Act (FFDCA) in any end-of-year legislative package under development. Provisions to strengthen the accelerated approval pathway, clarify and codify the scope of orphan drug exclusivity, and expand clinical trial diversity have broad bipartisan support and would directly benefit the rare disease community, but were left out of H.R. 6833. Our organizations are deeply concerned about the impact a delay in the long-term authorization -or a lapsed authorization of the Title V programs – and a failure to address the necessary legislative changes referenced above will have on patient access to critical, often life-saving products.

 

• Section 1557 of the Affordable Care Act.: Dup15q Alliance is proud to join over 80 organizations in signing a letter to the HHS Office for Civil Rights commenting on the proposed rule implementing Section 1557 of the Affordable Care Act. ​The groups support a comprehensive proposed rule seeking to strengthen civil rights protections in federally funded health programs and HHS programs and agreed that the ability to access needed health care fully and free from discrimination is critical and requires action to support and strengthen existing nondiscrimination laws.

 

• Accelerating Kids’ Access to Care Act (H.R. 3089/S. 1544): Dup15q Alliance joins patient advocacy organizations representing children with rare, serious, and complex medical conditions in a letter supporting the Accelerating Kids’ Access to Care Act (H.R. 3089/S. 1544). The Accelerating Kids’ Access to Care Act would create a pathway to screen and enroll pediatric providers in multiple state Medicaid programs if certain requirements are met, such as being in good standing with their home state Medicaid program. Eligible providers would be restricted to those caring for children and, in some cases, people over age 18 whose conditions began in childhood to improve continuity of care and recognizing that some young adult specialty care may be provided by pediatric providers.

 

• Prescription Drug User Fee Act (PDUFA): Dup15q Alliance joins 91 patient advocacy organizations representing patients with rare diseases and other acute or chronic health conditions, urges Committee on Health, Education, Labor & Pensions to include as part of this year’s Prescription Drug User Fee Act (PDUFA) reauthorization provisions to strengthen the Food and Drug Administration’s (FDA) accelerated approval (AA) pathway and enable patient access to these critical, often life-saving therapies. The AA pathway has proven itself to be a vital tool in bringing safe and effective treatments to many patients, including those with rare diseases. However, the pathway faces mounting criticism from a variety of stakeholders. 1 Some of these concerns have led to several proposals now before the Department of Health and Human Services (HHS) for consideration, that if approved and implemented, would undermine the authority of the FDA and delay or potentially bar patients from accessing crucial therapies where no other options exist.2 3 While there are legitimate criticisms of the AA pathway, too often it appears that issues with accelerated approval are being used as a proxy for the broader health system’s challenges with high prescription drug costs. Reducing patient access to therapies that utilize a specific FDA pathway will not solve problems with accelerated approval or prescription drug costs. Therefore, we urge Congress to incorporate into PDUFA reauthorization several recommendations outlined with this letter to strengthen the AA pathway and facilitate patient access to rare disease therapies that utilize accelerated approval.

 

• California’s Seizure Safe School Act (AB 1810): Dup15q Alliance is proud to sign on in support of California’s Seizure Safe School and urges Governor Newsom to sign AB 1810 into law. AB 1810 is critical to ensuring that students living with the epilepsies and seizure disorders in California remain safe and are well supported in their school environment and have access to the care that they need.

 

• Precision Medicine Answer for Kids Today Act: Dup15q Alliance is proud to sign on in support of the H.R.5989 the Precision Medicine Answer for Kids Today Act to ensure undiagnosed children and their families can have access to needed and comprehensive genetic and genomic sequencing clinical services. Enabling access to clinical genetic and genomic sequencing tests for undiagnosed children with a suspected inherited disease is critical for a timely diagnosis and access to comprehensive care, especially for may rare genetic conditions like dup15q syndrome.

 

• Patient Voice In the Drug Development Process: Dup15q Alliance joins over 30 organizations urging Congress to elevate the patient voice in the drug development process.  Neither the House nor Senate version of The Prescription Drug User Fee Act (PDUFA) currently includes provisions to further build upon and improve patient-focused drug development processes at FDA.  As the Committees advance the PDUFA reauthorization, we urge Congress to continue their legacy of supporting the patient voice in therapy development by including language ensuring FDA discloses how it uses patient experience data (PED) in the review process. This balance between rigor in developing PED and in applying it to the core agency decision-making is a vital compact that only Congress can ensure.

 

• The RARE Act: Dup15q Alliance joins 85 organizations representing patients with rare disorders urging Washington to incorporate S. 4185, the retaining Access and Restoring Exclusivity (RARE) Act. The RARE Act would clarify the original intent of the Orphan Drug Act (ODA) and codify the Food and Drug Administration’s (FDA) long-standing interpretation of that landmark law. Our organizations are deeply concerned that a decision from a recent court case, if not corrected by the enactment of the RARE Act, could hinder continued progress in rare disease drug development. The implications of this case could leave some rare disease patients, including children or those with less common variations of a rare disease, without access to an FDA-approved treatment that has been proven to be safe and effective for their specific circumstances and/or condition.

 

• Protect Access to CBD for Epilepsies: Dup15q Alliance joins 30 epilepsy organizations, to request edits to Section 811 of the bill to ensure that
  people with epilepsy can retain access to cannabidiol (CBD). The Senate Health, Education, Labor and Pensions (HELP) committee is currently working on their bill to reauthorize the Prescription Drug User Fee Act (PDUFA). Unfortunately, the bill contains a provision that could limit access to CBD. The bill includes a section on regulation of dietary supplements, including enhancing FDA’s ability to pull products marketed as a dietary supplement that include active ingredients from FDA-approved drugs. CBD that isn’t Epidiolex falls into the category of “dietary supplement” so this language could hurt access to CBD for people with epilepsy.

 

• Chronic Center Funding Letter: Dup15q Alliance join 63 patient and consumer organizations came together in support of requesting appropriators seeking $3.75 billion for the CDC Chronic Center. As Congress works to draft the Labor, Health and Human Services, Education and Related Agencies (Labor-HHS) appropriations legislation for fiscal year (FY) 2023, the 64 undersigned organizations request $3.75 billion for the Centers for Disease Control and Prevention’s National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP) in its mission to help people and communities prevent chronic diseases and promote health and wellness for all.

 

• FY23 Appropriations Sign on Letter_DMI and CFA: Dup15q Alliance joins with other organizations to organizations urge the appropriation of at least $250 million for the DataModernization Initiative (DMI) at the Centers for Disease Control and Prevention (CDC). Funding for DMI will also make possible the critical work of the CDC’s newly established Center for Forecasting and Outbreak Analytics (CFA). A $50 million appropriation for CFA in FY 2023 will help to fund the center to facilitate the use of data, modeling, and analytics to improve pandemic preparedness and response.

 

• The Ad Hoc Group for Medical Research:  Dup15q Alliance join with 370 organizations and institutions that signed on to the Ad Hoc Group’s FY 2023 funding recommendation for the National Institutes of Health. This recommends a program level of at least $49.048 billion for the NIH base budget, and strongly urges lawmakers to ensure that any funding for the new Advanced Research Projects Agency for Health (ARPA-H) supplement the $49 billion recommendation for NIH’s base budget, rather than supplant the essential foundational investment in the NIH.

 

• 2022 Sarah’s Law for Seizure Safe Schools (HB 606): Dup15q Alliance is proud to sign on in support of Sarah’s Law for Seizure Safe Schools (HB 606) and urge the Ohio legislature to swiftly pass this legislation. Sarah’s Law for Seizure Safe Schools is critical to ensuring that students living with the epilepsies and seizure disorders in Ohio remain safe and are well supported in their school environment and have access to the care that they need.

 

• CDC Data Modernization Appropriations: Dup15q Alliance joins over 100 patient advocacy organizations in a letter to the Appropriations Committee in support of at least $250 million in FY23 funding for CDC’s Data Modernization Initiative (DMI) and $50 million for CDC’s new Center for Forecasting and Analytics (CFA). The DMI will ensure systems across public health can share data quickly and seamlessly with one another in response to any public health threat and the CFA will use data, analytics, and modeling to improve pandemic preparedness

 

• 2022 Will’s Law: Dup15q Alliance is proud to sign on in support of Will’s Law (SB 710) and urge the Missouri legislature to swiftly pass this legislation. Will’s Law is critical to ensuring that students living with the epilepsies and seizure disorders in Missouri remain safe and are well supported in their school environment and have access to the care that they need.

 

• 2022 Maryland’s Seizure Safe School Act “Brynleigh’s Act”: Dup15q Alliance is proud to sign on in support of the Maryland’s Seizure Safe School Act “Brynleigh’s Act” or HB.136, which calls for state legislation to ensure school personnel, including nurses and teachers, are not only prepared but can also recognize and respond appropriately and efficiently to students experiencing seizures.

 

• 2022 Virginia General Assembly HB 1178 Seizure First Aid for Employers: Dup15q Alliance is proud to sign on in support of the Seizure First Aid for Employers Bill, or HB1178, which removes barriers to employment and other life experiences; enhances public and employee safety; protects mental health for those living with seizure disorders; and increases awareness, thereby reducing the stigma and fear from bystanders and increasing understanding of the prevalence.

 

• 2022 Safe Step Act: Dup15q Alliance is proud to join with 206 other organizations endorsing the Safe Step Act of 2021. The Safe Step Act requires insurers to implement a clear and transparent process for a patient or physician to request an exception to a step therapy protocol. While step therapy can be an important tool to contain the costs of prescription drugs, in some circumstances, it has negative impacts on patients, including delayed access to the most effective treatment, severe side effects, and irreversible disease progression. Currently, when a physician prescribes a particular drug treatment for a patient, the patient’s insurance company may require them to try different medications and treatments before they can access the drug originally prescribed by their physician. This protocol is known as “step therapy” or “fail first.” Not only does the Safe Step Act allow for patients or physicians to request an exception, it outlines the 5 exceptions and requires a group health plan to respond to an exemption within 72 hours in all circumstances and 24 hours if the patient’s life is at risk.

 

• Seizure Safe Arizona:  Dup15q Alliance is proud to sign on with 32 other organizations in support of Arizona’s Seizure Safe Schools bill, SB 1654. Arizona’s Seizure Safe Schools bill, SB 1654 would greatly improve the care and safety of students with epilepsy and seizures in schools by: Allowing seizure action plans to be submitted for each student with a seizure disorder and made available to school personnel responsible for the student; Requiring school nurses and school personnel to undergo an approved seizure recognition and first-aid training course online; Ensuring the administration of FDA-approved medications by at least one trained school employee other than a school nurse; and  Including a Good Samaritan Clause for those who act in good faith in accordance with the bill’s provisions.

 

• 2022 Accelerated Approval Pathway: Dup15q Alliance joins 90 other advocacy organizations urging Congress and the U.S. Department of Health and Human Services to strengthen the FDA’s accelerated approval pathway. Under accelerated approval, the time required to receive FDA approval was considerably shortened allowing for earlier patient access to drugs that were intended to treat serious and life-threatening diseases and conditions for which there were unmet medical needs, including many rare diseases. However, the pathway faces mounting criticism from a variety of stakeholders. Some of these concerns have led to several proposals now before the Department of Health and Human Services (HHS) for consideration, that if approved and implemented, would undermine the authority of the FDA and delay or potentially bar patients from accessing crucial therapies where no other options exist. While there are legitimate criticisms of the AA pathway, too often it appears that issues with accelerated approval are being used as a proxy for the broader health system’s challenges with high prescription drug costs.

 

• 2022 California’s Seizure Safe School Act (AB 1810): Dup15q Alliance is proud to sign on in support of AB 1810 and urge the California legislature to swiftly
  pass this legislation. AB 1810 is critical to ensuring that students living with the epilepsies and seizure disorders in California remain safe and are well supported in their school environment and have access to the care that they need.

 

2021 Dup15q Advocacy in Action

• 11 08 21 FoNICHD FY22 Omnibus Letter FINAL: Dup15q Alliance joined with organizations who are members of the Friends of NICHD in a letter urging the Subcommittee on Labor, Health and Human, Education, and Related Agencies Services Education, Committee on Appropriations to continue working together to maintain your commitment to the NationalInstitutes of Health (NIH) and NICHD to include at least $46.6 billion of the omnibus spending bill for the NIH, as reflected in the House bill. We also ask that you fund NICHD at $1.7 billion in Fiscal Year (FY) 2022, an increase of $117 million over FY 2021

 

• 2021 For Access to Anticonvulsants: Dup15q Alliance joined with the Epilepsy Community in a signed statement calling on the Biden Administration to rescind a demonstration announced by the previous administration that would severely limit access to anticonvulsants (also known as anti-seizure medications) for the 1.1 million Medicare beneficiaries living with the epilepsies.

 

• 2021 Virginia Seizure Safe Bill: Dup15q Alliance is proud to sign on in support of the Jamie and Brie Strong Act. The Jamie and Brie Strong Act has four components included in the bill: Train school personnel on seizure detection and first aid response; Mandate Seizure Action Plans be on file for every student diagnosed with epilepsy or a seizure disorder, and require those plans be available to all personnel responsible for the student; Ensure the administration of medications approved by the U.S. Food & Drug Administration; and A Good Samaritan Clause for those who act in good faith in accordance with the bill’s provisions. Dup15q Alliance along with our partners supports the Seizure Safe School Initiative for 12 additional states that have legislation coming up over the next several months. (AL, AZ, IA, MI, MD, MO, NE, OK, PA, SC, VA, WA)

 

• 2021 Nomination for Dr. Janet Woodcock: Dup15q Alliance is proud to sign on to a letter in support of Dr. Janet Woodcock in her current role as Acting Commissioner and as she is considered for potential nomination as Commission of the U.S. Food and Drug Administration. (FDA) Dr. Woodcock is a passionate advocate for American patients and consumers, an ally to patient advocacy groups and a fearless leader at the FDA. Read more on page 5 of the LA Times.

 

• 2021 Prioritization of Individuals with Rare Diseases and Caregivers for COVID-19 Vaccines: Dup15q  is one of 69 advocacy groups, healthcare providers and biotech companies to join together and submit a letter to the National Governors Association urging them to include individuals with rare diseases and primary caregivers of high-risk individuals as priorities in the administration of any FDA-approved or authorized COVID-19 vaccines. Our partners at TSC Alliance will be submitting this letter to every state over the coming weeks.

 

• 2021 Project Baby Dillo: Dup15q is proud to sign on in support of Project Baby Dillo. Project Baby Dillo, patterned after similar successful efforts in California and Florida, aims to solve the problem of delayed diagnosis of genetic diseases by delivering timely whole-genome sequencing (WGS)
  pilot data to demonstrate faster diagnoses, better health outcomes, and decreased cost of care for critically ill newborns in Texas.

 

• 2021 Emergency Licensure Waivers: Dup15q Alliance is proud to sign on to a letter to all state governors urging them to maintain and expand licensure flexibilities for care across state lines. Expanded access to telehealth during the COVID-19 pandemic has shone a light on its ability to fill gaps in patient access to care. Over the last few months, many states have allowed COVID-19 emergency declarations to expire and the licensure flexibilities to expire with it, despite the ongoing pandemic and surge in cases due to the Delta variant. This has been extremely detrimental and disruptive to necessary and ongoing patient care.

 

• Ending the Diagnostic Odyssey Act of 2021: Dup15q Alliance is proud to sign on in support of the Ending the Diagnostic Odyssey Act that would allow states to conduct a pilot program to increase the Federal Medical Assistance Percentage rate (FMAP) to provide Whole Genome Sequencing clinical services for
  children on Medicaid with a disease that is suspected to have a genetic cause. We are eager to see this bill signed into law so this first-line test can be offered to families, regardless of income.

 

• 2022 Defense Appropriations Act: Dup15q Alliance joined other advocacy organizations in signing a letter to Congress urging them to work toward the enactment of the fiscal year 2022 Defense Appropriations Act, to ensure that the Defense Health Research Programs, including the Congressionally Directed Medical Research Programs (CDMRP), are fully funded in fiscal year 2022. Failure to enact the Defense Appropriations Act will delay important new discoveries and translation of medical innovation into new treatments and cures for many disorders.

 

• Safe Step Act of 2021: Dup15q Alliance joins over 200 other organizations signing on to a letter asking to Improve step therapy protocols and ensure patients are able to safely and efficiently access the best treatment for them.  Step therapy is a tool used by health plans to control spending on patient’s medications. While step therapy can be an important tool to contain the costs of prescription drugs, in some circumstances, it has negative impacts on patients, including delayed access to the most effective treatment, severe side effects, and irreversible disease progression.

 

• 2021 Orphan Drug Tax Credit: Led by the Epilepsy Foundation,  Dup15q Alliance joins 23 Epilepsy Groups to urge Congress to Maintain Orphan Drug Tax.  Since Congress passed the Orphan Drug Act in 1983, there has been a significant development of rare disease drugs. According to the FDA, today, there are 652 treatments approved for 1,006 rare disease conditions. While there has been progress and treatment approvals for a few of the rare, severe epilepsies, such as Dravet Syndrome and Lennox-Gastaut Syndrome, there is much more work to be done. We urge Congress to maintain the ODTC as it stands today so that people with rare epilepsy and their families can maintain hope that new orphan uses of drugs will continue to be pursued, approved and made available to them.

 

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2020 Dup15q Advocacy in Action

 

• 2020 Medication Access in Third COVID Package Letter: A letter led by the Epilepsy Foundation urging Congress to include provisions in the COVID-19 packages that will ensure access to medications and supplies, including requiring all payers to relax refill limits so that people can have up to a 90-day supply; ensuring that the protections are extended to certain controlled substances including anti-seizure medications; and requiring all payers to waive prior authorization and other utilization management practices. (Download here.)

 

• 2020 Every Life Foundation Patient Community COVID Access Letter: A letter led by the EveryLife Foundation which is very similar to the Foundation’s letter and focused on medications, though directed at state-level decision-makers and entities;

 

• 2020 Defense Health Research Consortium (DHRC): Federal appropriations for Fiscal Year (FY) 2021 outside of the COVID-19 relief package. The letter will be sent to the House and Senate Appropriations Committees, expressing support for increased funding for the Defense Health Research Programs, or Congressionally-Directed Medical Research Programs (CDMRP), at the Department of Defense. The CDMRPs fund cutting-edge research into a number of epilepsy-related issues including post-traumatic epilepsy (PTE) resulting from traumatic brain injury (TBI) and the tuberous sclerosis complex (TSC).

 

• 2020 California Seizure Safe Bill: This bill seeks that schools collaborate with the parent or guardian of each pupil diagnosed with a seizure disorder to create a seizure action plan, which will provide school nurses and employees with important information specific to that child’s condition. This would not only benefit students living with epilepsy, but schools and school personnel as well by ensuring that they are prepared to care for a student in the event of an emergency. Lean more here.

 

• 2020 Access To Medications Letter:  This letter helped get a provision in the law that requires Medicare plans to provide an up to 90-day supply of medications. However, we still have work to do to ensure that this includes controlled substances (since some anti-seizure medications are labeled that way) and extends to Medicaid and private insurance.  (Full letter here)

 

• 2020 The Defense Health Research Consortium: This letter encourages to continue support for the critical and highly successful defense health research programs funded through the Congressionally Directed Medical Research Programs (CDMRP) at the Department of Defense (DoD).

 

• 2020 Curing the Epilepsies: Dup15q Alliance proud to join in writing a letter of support to the NIH and providing feedback for the Curing Epilepsy: Focus on the Future research benchmarks. Every 7 years, the NINDS organizes the Curing The Epilepsies conference to review progress against the existing epilepsy research benchmarks and set new ones for the next 7 yrs.

 

• 2020 Texas Drug Utilization Review Board Letter: Dup15q Alliance is proud to sign on to a letter the the Texas Drug Utilization Review board encouraging the TX DUR to list the intranasal anticonvulsant rescue medications as “preferred medications” without any requirement that a patient must fail one or more rescue medications.

 

• 2020 Medicare Program; Medicare Coverage of Innovative Technology (MCIT) and Definition of “Reasonable and Necessary”: Dup15q Alliance is proud to be a member of the Haystack Project committed to the Rare and Ultra Rare Disease and writing in support of Medicare coverage for off-label use of medical devices.

 

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