September's KDA President's Message
This month, I would like to give a shout-out to caregivers and thank them for all they do. Caregivers are the unsung heroes in our KD community. The National Alliance for Caregiving has pointed out that caregivers for patients with rare diseases spend on average 37 hours per week performing medical/nursing duties and helping their care recipient with activities of daily living. This is 12 hours more per week than, for example, caregivers of elderly parents. The study also notes that rare disease caregivers often must educate doctors and other health professionals about the rare disease affecting their care recipient. KD caregivers do all these things and more. They also help with mobility, transportation, and accommodation when traveling, all of which are time-consuming and sometimes frustrating tasks.
I recognize and acknowledge the burden placed on our caregivers. You have a very difficult job with no days off. You are simply irreplaceable. Thank you for everything you do for your KD loved one. We all owe you a huge debt of gratitude.
Kennedy's Disease Association
October 28th and 29th — Register Now! We're going virtual one more time. Evaluations from the 2020 conference were overwhelmingly positive, with many who would not otherwise have been able to attend expressing their appreciation for the opportunity. The virtual format allowed us to reach many more people in a much greater geographical area, and the quality of the talks were outstanding. We hope to do as well or better this year. For more details and to register, click here.
The NIH Launches a New Kennedy's Disease Study
Research - Gene therapy with AR isoform 2 rescues SBMA phenotype by modulating AR transcriptional activity
Atrophy phenotype by modulating AR transcriptional activity AR-silencing strategies have shown encouraging results in preclinical models but are hampered by the risks of long-term, widespread AR loss. Alternatively, small molecules that modulate AR coregulator–binding affinity are an attractive therapeutic avenue. Nevertheless, the lack of full understanding of their mechanisms of action, potential off-target effects, and unfavorable pharmacokinetic profiles limits their clinical applicability. In our study, we establish a physiological role of one of the naturally occurring AR isoforms, i.e., AR isoform 2 (AR-2), in fine-tuning full-length AR transcriptional activity. Furthermore, by selectively targeting mutant AR transcriptional dysregulation, we provide proof-of-principle evidence for efficacy and safety of a gene therapy strategy based on delivery of this AR variant to treat SBMA, confirming the translational potential of this strategy. To read the research study, click here.
New KD Global Registry
We need your help! We’ve heard from patients and researchers about the need for a patient registry for Kennedy’s Disease also known as Spinal and Bulbar Muscular Atrophy - SBMA. We’re pleased to announce that the KD/SBMA registry is now ready for your data!
The KDA is partnering with the Coordination of Rare Diseases at Sanford Health (Sanford CoRDS) to create a global registry of KD/SBMA patients and carriers. This registry will facilitate KD/SBMA research and will be used to recruit patients for clinical trials. Most important, a robust registry will provide a roadmap for investigators and will help them develop improved treatments and potentially a cure for this debilitating rare disease. Here are a few important things for you to know about the KD/SBMA registry.
- The KD patient registry was developed jointly by NIH and the KDA.
- KD patients and carriers are all urged to enter your data. There is a separate form for carriers.
- Entering data into the registry requires completing the CoRDS profile and two questionnaires, the CoRDS standard questionnaire and the KD/SBMA questionnaire. The entire process should take about 30-45 minutes (less for carriers) and does not have to be done all at one sitting.
- Data can be entered into the registry online, on paper, or by phone with Sanford CoRDS. To learn more, click here.
- There is no cost for entering your data into the registry.
- To protect your privacy, each participant is assigned a Global Unique Identifier that enables de-identification (anonymization) of the data when shared with researchers approved by Sanford Health’s Scientific Advisory Board. Your name and other identifying information will not be shared.
- Providing your consent to give KDA access to your data will allow us to contact you for studies and clinical trials and help improve our understanding about where to drive our research.
- KDA’s goal is to make CoRDS the global repository for KD/SBMA patients. The registry is compliant with U.S. Federal law and the European Union’s General Data Protection Regulation.
Please enroll today, either online or by phone: To enroll online, click here or simply call CoRDS at 1-877-658-9192 and they will enter data on your behalf.
The Kennedy Disease Association Board of Directors
THE GREAT ROAD TRIP - LOS ANGELES TO ROME
KDA and KD-UK are planning an ambitious road trip, in a 29 horsepower 35-year-old Citroen 2CV in 2022, from Los Angeles to Rome from April to July 2022. The car will be shipped to Los Angeles and then shipped across the Atlantic from New York to Southampton. The Citroen 2CV, affectionately known as the tin snail, is a cult car in Europe. It was first manufactured in 1948 and production ceased in 1990. The 2CV has been comprehensively refurbished for the trip. The cost of the 2CV, and its restoration, has already been funded by a generous donor. A seven-day trans alpine cycling event will be run alongside the road trip from Chamonix to Nice in July 2022. Classic Car clubs from across the United States are also expected to join various segments of the American trip. For more information, click here.
COVID19 vaccination in patients with spinal and bulbar muscular atrophy
The Sunnybrook ALS/Neuromuscular clinic at the University of Toronto follows a large number of patients with Kennedy’s Disease (KD). Since patients with KD may experience respiratory impairment and are at increased risk of complication of respiratory infections. The Sunnybrook clinic recommends that KD patients be a priority group to receive vaccination for COVID-19. To read the letter, click here.
Dr. Christopher Grunseich, MD, a staff clinician at the National Institutes of Health has evaluated patients with spinal and bulbar muscular atrophy (SBMA) in multiple clinical studies and mentions in a letter that serious, life-threatening complications due to Covid 19 would be mitigated with COVID19 vaccination. To read the letter, click here.
THE KDA NEWSLETTER
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MDA Access Workshop - Access to Coverage: Equipment and Assistive Devices
This on demand workshop provides an overview of obtaining insurance coverage for medical equipment and assistive devices. It covers the general process for obtaining coverage of common items, as well as what individuals can expect if they are faced with a denial on coverage. The entire neuromuscular disease community can expect to take away from this on-demand workshop tools and resources to support the journey in obtaining equipment or devices. The workshop is designed so participants can take the full workshop or navigate to a specific area of interest. To take the workshop, click here.
Rare Diseases and Orphan Products Breakthrough Summit October 18-19, 2021
The 2021 NORD Rare Diseases and Orphan Products Breakthrough Summit will bring the rare disease community together for education, collaboration and networking on October 18 and 19, 2021. For more information on this event, click here.