Photo credit: EveryLife Foundation for Rare Diseases
National Ataxia Awareness Day Resolution
International Ataxia Awareness Day is celebrated on September 25. NAF and FARA asked for a resolution to also recognize that date
as National Ataxia Awareness Day. Designating September 25 as National Ataxia Awareness Day will elevate the awareness needed to
improve the lives of the persons and families affected by Ataxia and can help accelerate development and access to effective treatments.
Senator Chris Murphy (D-CT) and Senator Cindy Hyde-Smith (R-MS) are the co-sponsors for the resolution for September 25, 2021.
Congressionally Directed Medical Research Program (CDMRP)
FARA and NAF has been working to get “hereditary ataxia” added to the CDMRP, which is run by the Department of Defense.
There are over 45,000 veterans who suffer from ataxia and that number multiplies when you add family members who have ataxia.
The CDMRP focuses on funding high impact, high risk, and high gain research projects. Since its origin in 1992, the CDMRP has
funded $17.8 billion dollars for research. If added, this would provide a new source of funding for FA researchers.
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Accelerating Access to Critical Therapies (ACT) for ALS (H.R. 3537/S. 1813)
On May 25, 2021, the bipartisan, bicameral Accelerating Access to Critical Therapies (ACT) for ALS (H.R. 3537/S. 1813) was introduced.
Although this bill is directed primarily towards ALS, there are very important parts that help all rare neuromuscular diseases like FA.
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The three initiatives in this legislation that would help FA research are:
Establish a Health and Human Services (HHS) Public-Private Partnership for Rare Neurodegenerative Diseases between the NIH,
the FDA, and eligible stakeholders with a connection to the patient population(s) to advance the understanding of rare
neurodegenerative diseases and foster the effective development and evaluation of treatments;
Commission the publication of an FDA Action Plan on rare neurodegenerative diseases;
Implement an FDA grant program to fund research and therapy development for life-threatening or severely debilitating
rare neurodegenerative diseases.
You can check if your Member
signed on in the House or
If they did, you will be able to thank them! If not, you can ask them to support ACT for ALS (H.R. 3537/S. 1813).
The BENEFIT Act (S.373/H.R. 4472)
The Better Empowerment Now to Enhance Framework and Improve Treatments (BENEFIT Act) will amend the Food, Drug and Cosmetic Act
(FDCA) to ensure that patient experience, PFDD and related data – including information developed by a product sponsor or a third party
such as a patient advocacy organization or academic institution – be considered as part of the risk-benefit assessment. This action will
send an important signal to all stakeholders that patient experience and PFDD data will be fully incorporated into the agency’s review
process and will encourage such entities to develop scientifically rigorous and meaningful tools and data.
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Increased Federal Funding for Research
Ensuring robust funding with sustained and predictable increases is essential to ensuring that good science moves forward. FARA's top priority is to help secure continued support for our federal partners at the National Institutes of Health (NIH) and the Food & Drug Agency (FDA) so they have the resources necessary to advance promising research and promptly review new drug applications.
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Increased federal funding for research
Research relies on our federal partners at the National Institutes of Health (NIH) and the Food & Drug Agency (FDA). The NIH is the steward of medical and behavioral research for the National. The FDA is the regulatory authority over new drug applications. The NIH & FDA are complementary in their roles and functions — NIH supports and conducts biomedical and behavioral research and FDA ensures the safety and effectiveness of medical and other products.
Elected officials will be working on appropriations for the NIH and FDA in April. These agencies are vital to the ataxia drug development programs and they need the resources to appropriately manage the demands of COVID in addition to all the other important research programs they review.
COVID-19 Effects on Research
FARA will continue to address issues arising from COVID-19 that directly impact FA research. Current issues include supplemental funding, access to
vaccinations, telemedicine, and application of lessons learned from the pandemic that could expedite drug development.
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RISE Act (H.R.869/S.269): Senator Edward Markey (D-MA), Senator Thom Tillis (R-NC), Representative Diana DeGette (D-CO) and Representative Fred Upton (R-MI) introduced the Research Investment to Spark the Economy (RISE) Act
(H.R.869/S.269) in their respective chambers of Congress. The RISE Act
would authorize $25 billion in funding to restart research, jumpstart crucial clinical trials, repair breaks in the career pipeline that jeopardize
our nation’s scientific and technological capacity, and prevent a loss of our strategic research capacity. FARA joined
a coalition letter supporting this Act.
PDUFA VII: Fiscal Years 2023-2027
The timely review of the safety and effectiveness of new drug applications (NDAs) and biologics license applications (BLAs) is central to FDA's mission to protect and promote the public health – and PDUFA is essential to these efforts. Before PDUFA's enactment in 1992, Americans’ access to innovative, new medicines lagged behind other countries. FDA's premarket review process was understaffed, unpredictable, and slow.
The Agency lacked sufficient staff to perform timely reviews or develop procedures and standards to assure a more rigorous, consistent, and predictable process. To tackle these challenges, Congress passed PDUFA, which authorized FDA to collect industry user fees to hire additional staff and upgrade its information technology systems. In return, it committed the Agency to speed the application review process for new drugs without compromising its high standards for new drug safety, efficacy, and quality.
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Newborn Screening Saves Lives Reauthorization Act (S. 350/H.R. 482)
The Newborn Screening Saves Lives Reauthorization Act, H.R. 482/S. 350 was introduced in the House on January 25, 2021
by Representative Lucille Roybal-Allard (CA) and in the Senate on February 19, 2021 by Senators Maggie Hassan (NH) and Roger Wicker (MS).
This Act would continue critical federal programs that aid states to improve and expand their newborn screening programs, support parent
and provider education, and ensure laboratory quality and surveillance for newborn screening. Authorizations for these
programs expired in 2019.
to contact your Members about this bill.
Rare Disease Congressional Caucus
The Rare Disease Congressional Caucus helps bring public and Congressional awareness to the unique needs of the rare disease community (including patients, physicians, scientists, and industry), and creates opportunities to address roadblocks to the development of and access to crucial treatments.
The Caucus gives a permanent voice to the rare disease community on Capitol Hill.
Find Out if your Representatives are members of the Rare Disease Caucus. Thank your Representatives that are members and Invite those that are not to join.
Rare Disease Advisory Councils
FARA supports all efforts at a state level to include the patient community in decision making. A Rare Disease Advisory Council serves to inform the legislative body and give the rare disease community a voice in programs and policies that would directly impact them.
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Photo credit: National Organization for Rare Disorders
DOES YOUR STATE HAVE A RARE DISEASE ADVISORY COUNCIL?
In 2015, the first rare disease advisory council was created in North Carolina as a result of the rare disease community coming together and demanding a stronger voice in government. With over 7000 rare diseases, it would be impossible for state legislators to understand the challenges rare disease patients face every day around diagnosis, treatment, and access. Additionally, state policies are often determined without consulting the individual disease community that will be directly affected. A state rare disease advisory council provides an avenue for all stakeholders including patients, caregivers, doctors, insurers, drug manufacturers, and researchers to offer insight and recommendations to state elected officials and leaders as those decisions are being considered.
A comparison state program would be a state legislative caucus. A caucus is a group of legislators coming together around a common interest, such as rare disease. To learn more, check out these resources from the Everylife Foundation.
Letter to FDA & Reata Pharmaceuticals regard Access to Omaveloxolone
A Call to Action was held from January 5, 2021 – January 20, 2021 where the entire FA community (individuals with FA, family, friends, caregivers, supporters, other rare disease advocates) to sign-on a letter to the Food and Drug Administration (FDA) and Reata Pharmaceuticals. This letter requests Reata to submit a New Drug Application (NDA) on an urgent basis and the FDA to exercise the flexibility granted by law and contained in the FDA guidance in considering approval of an NDA for Omaveloxolone in FA based on the existing evidence from clinical trials.
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FDA & Reata Pharmaceuticals: Allow Individuals with Friedreich Ataxia Access to Omaveloxolone
74,070 individuals signed on to the FA Community Response letter requesting Reata Pharmaceuticals submit a New Drug Application (NDA) on an urgent basis and FDA consider approval of an NDA for omaveloxolone in FA based on the existing evidence from clinical trials.
FARA issued a Call to Action in the form of the FA Community Response letter asking individuals to sign-on in support of a request to FDA and Reata that they work together to approve omav for FA as quickly as possible. FARA shared the FA Community Response letter via our website, email lists and social media channels. Sign-on opportunity was open from January 5-20, 2021.
At the links below, you will find a copy of the FA Community Response Letter and 13 letters of support from FA and Ataxia organizations, writing on behalf of the FA patients they represent and joining FARA in making the request of FDA and Reata to urgently submit a marketing application, approve and provide access to omaveloxolone.
The voice of the patient is critical to the drug development process and FDA has been a strong advocate for identifying opportunities for the “patient voice” to inform and guide drug development. The 21st Century Cures Act requires sponsors to include and FDA to consider the patient perspective in making approval decisions for new drugs. The FA community contributed its patient voice in June 2017, when FARA hosted the externally-led Patient Focused Drug Development meeting on FA for FDA which revealed that nearly 100% of people with FA experience neurological symptoms including loss of balance and difficulty walking, loss of coordination of movement in the upper and lower limbs and fatigue. We described to FDA that these neurological symptoms have an enormous effect on quality of life as they lead to lost ability to perform activities of daily living and loss of independence. Many of these neurological symptoms (balance, gait, upper limb function, and speech) are measured in the clinic with a structured functional exam called the modified Friedreich Ataxia Rating Scale (mFARS). Data from an ongoing, large, prospective, longitudinal, FA natural history study has demonstrated that neurological symptoms as assessed by mFARS get progressively worse over time and that the mFARS score is highly correlated to activities of daily living in FA. We worked with FDA to improve this scale and ensure it is included in clinical trials in FA
There are currently no approved treatments for FA. However, recently a well-controlled clinical trial of omav in 103 individuals with FA demonstrated a statistically significant, placebo-corrected 2.40-point improvement in mFARS after 48 weeks of treatment (p=0.014). In addition, individuals in the treatment arm reported improvements in activities of daily living, such as walking, quality of sitting position and swallowing compared to the placebo group. Given the positive clinical trial results, favorable safety profile of omav, and difficulty conducting clinical trials in FA especially during the current pandemic environment, we are asking FDA and Reata to work together to provide access to omav for people with FA as soon as possible.
FA is a devastating, progressive and life-shortening rare genetic condition that affects children and adults. All individuals with FA suffer neurological symptoms which include loss of coordination of movement in the upper and lower limbs, loss of balance and gait ataxia leading to loss of ambulation and loss of independence in performing activities of daily living (eating, writing, dressing, bathing, etc.). Other common symptoms include dysarthria (speech difficulty), fatigue, cardiomyopathy, arrhythmia, and diabetes. The average life expectancy for individuals with FA is about 35 years.
Omaveloxolone targets a specific cellular dysfunction in FA and has been demonstrated in clinical trials to improve disease specific biomarkers and meaningful neurological clinical outcomes and activities of daily living. Omav has also been demonstrated to be safe and well-tolerated.
Given the clinical trial results, FA patient families and clinicians strongly encourage Reata and the FDA to work together promptly to give people with FA, who currently have no other choice for treatment, access to omav as soon as possible. FDA has emphasized the importance of the patient voice, especially for rare conditions without FDA-approved treatment options. As summarized in the report on The Voice of the Patient: Friedreich Ataxia, people with FA experience severely compromised quality of life, loss of independence and early mortality due to symptoms of FA. The majority of patients reported that balance/walking, upper limb function and fatigue have the highest impact on quality of life and treating even one of these individual symptoms would be meaningful. Ninety-five percent (95%) of individuals indicated that slowing or stopping disease progression would be extremely meaningful to them when considering a drug therapy. The patients and clinicians of the FA community are fully aware of the clinical trial results evaluating the use of omav in FA and are convinced that the results demonstrate meaningful benefit and low risk. More than 95 percent of eligible individuals who participated in the clinical trials elected to enter the open-label extension study to continue their access to omav while awaiting formal analysis of the trial data and regulatory review. We ask Reata to submit a New Drug Application (NDA) on an urgent basis and FDA to exercise the flexibility granted by law and contained in FDA guidance in considering approval of an NDA for omav in FA based on the existing evidence from clinical trials.
Community Home Health and Telehealth Policies
In the early weeks and months of the COVID-19 public health emergency, Congress and the Administration took important steps to ensure patients have access to essential care while the nation grappled with controlling the spread of the virus. Specific time-limited regulatory flexibilities have removed significant barriers to care and improved access for the 30 million Americans living with a rare disease or condition including Ataxia. However, these flexibilities are at risk of going away when the public health emergency ends. We urged policymakers to recognize how these flexibilities have benefited members of the rare disease community and consider which policies should be kept in place after the public health emergency ends.
Creating Hope Reauthorization Act
This bill will permanently authorize the Pediatric Priority Review Voucher (PRV) program which will further the opportunity to spur innovation in rare and neglected diseases that disproportionately impact children.
(Photo credit: Duke University - The Fuqua School of Business)
Contacting Elected Officials
Preparing for Meetings
Contacting Elected Officials
The most effective voice in making change is yours. The first step is to determine who are your elected officials. You can search on both
the official Senate and
House of Representative websites for your federal officials. However, by using one of the below resources, you can also see the district map, see all your federal officials in one place and even learn about some state representatives.
Federal, state and local officials by Common Cause
Once you have your list of officials, you can email or call them to discuss concerning matter or request a meeting. Contact information will
be listed on their official website or, for federal officials, you can call the US Capitol Switchboard at (202) 224-3121. Both federal and state
officials will have local office(s) and one in the capitol where they serve. You can also engage your representatives through social media
such as Facebook and Twitter.
Meeting with your representative can be one of the most effective ways to share your message. A little preparation before will not only
strengthen your position but make you feel more comfortable. Here are some helpful hints to get ready.
Be prepared. Learn about current issues. Check out FARA's 2021 Initiatives for resource information. Read relevant material and/or listen to any webinars offered. Gather materials that support your position and bring them to the meeting. It is up to you to educate the Member on the particular issue or piece of legislation you are addressing. There is no way that they would know or understand what the implications of their legislative actions would be on FA specifically, or rare disease more generally, unless you tell them!
Develop your “elevator speech.” How would you explain ataxia to someone who has never heard of it? Include a brief explanation of
your diagnostic odyssey if pertinent. Think about details of how ataxia impacts your life daily. Tie your experiences to the issue(s)
currently being considered.
Learn about your elected official. Check out his/her website, read his background, see what areas he/she is most interested in. You may find a personal connection (town, school, activity, sports team) that you both share and this could open a conversation. Advocacy is about building relationships and sometimes that happens over the most unusual items in common.
Be prompt, be concise, be direct. Elected officials, and their staff, have busy schedules but meeting constituents is an important part of the job. Be considerate of their time but confident in why you are there. Tell them your “ask” or what you want them to do.
Don’t be nervous. They are folks just like you, and in fact, they work on your behalf!
You will likely meet with a staffer. Do not be disappointed – they are the ones that learn the issues and advise the official. They
will also most likely be the person who follows up with you. Good connections with staff will translate to good communications
with your representative.
Make a connection to constituency. Members of Congress want to represent the best interests of their district or state. Who else would be impacted by the action? Would revenue or jobs be impacted?
Thank them, leave material behind, follow up. Thank them for their time and, if appropriate, offer assistance. Make sure to leave behind relevant material including
the FA Fact Sheet. Send a follow up email that includes points covered during the meeting, next steps, and any additional information requested. Follow up periodically on the status of your issue. Each communication helps to develop a relationship with your representative's office.