July's KDA President's Message

TerryThompson

Independence Day, family picnics, baseball, swimming, and just chillin’ – these are the things Americans think about in July. Most of the people reading this message, however, will be dreaming of a different kind of independence: freedom from Kennedy’s Disease. For KD patients and their families everywhere, therapies to slow the progression of the disease and lead to a cure are the things that would mean real freedom. As I said last month, there are signs pointing in the right direction to achieve these goals. Thanks to the generosity of patients and their families, KDA increased the budget for research grants awarded in 2020. And we’re on track to do the same thing this year. The global KD/SBMA research community is making significant progress in understanding the disease, and several pharmaceutical companies are in the early planning stages for clinical trials that may start next year. Some really great news is that, as of 1 July, 145 patients and carriers have already entered their data in the CoRDS KD/SBMA patient registry. THANK YOU! The registry, like the Quality-of-Life study being conducted by NIH, provides new data scientists can use to accelerate their research. So, while I wish all our American members a happy Fourth of July, my vision is that one day in the not-too-distant future, we will all be able to celebrate independence from Kennedy’s Disease.

Terry Thompson
President
Kennedy's Disease Association


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.

Thank you!

The Kennedy Disease Association Board of Directors


 KDA Awards Grants Totaling $196,200

KDA is pleased to announce 2020 grants totaling $196,200 to the following SBMA researchers listed below. A summary of the projects is provided by clicking here. Congratulations to the recipients!

Characterizing the high prevalence and founder effects for Kennedy’s disease in Indigenous peoples of western Canada
Dr. Gerry Pfeffer (University of Calgary) 

Targeting the interaction of poly-Q expanded AR receptor with pVHL to ameliorate SBMA
Antonella Falconieri, PhD (University of Padova) 

A drug repurposing strategy to inhibit AR transcriptional coactivators as a therapeutic approach in SBMA
Manuela Basso, PhD (University of Trento)

Unveiling regenerative and metabolic features of SBMA muscle cells to identify new therapeutic targets
Mariarita Galbiatti, PhD (University of Milan)


KDA Annual Conference 2021

KDA Conference 2021

 October 28th and 29th — SAVE THE DATE! 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. More details will be coming out soon, but for now, please put Thursday and Friday, the 28th and 29th of October, on your calendar for the 2021 KDA Conference!


Recall on Phillips BiLevel CPAP and BPAP machines 

Philips has issued an urgent recall of certain BiLevel CPAP and BPAP machines manufactured before April 26, 2021.  The recall notice urges patients using these devices to discontinue their use and consult with their physicians.   Details and models of the affected units are found on this link: Philips Recall (expertinquiry.com).


THE GREAT ROAD TRIP - LOS ANGELES TO ROME

KD Trip Logo

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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MDAAccessworkshops

MDA Engage Webinar Series

Medical Equipment and Assistive Devices for Neuromuscular Disease: Overview - Part 1
Tuesday, July 20, 2021 - 3:00 - 4:00 p.m. ET

Medical Equipment and Assistive Devices for Neuromuscular Disease: Overview - Part 2
Tuesday, August 10, 2021 - 3:00 - 4:00 p.m. ET

Many in the neuromuscular community will have a need for some type of medical equipment and assistive devices. Part 1 will discuss what durable medical equipment is, learn who prescribes equipment, and what questions you should ask your provider before obtaining equipment. To register, click here.

MDA Access Workshops

MDA Access Workshops are a community education program created to provide information and resources on overcoming barriers to a variety of access topics while being specifically built for the neuromuscular disease (NMD) community. These workshops are on-demand. They will allow individuals to navigate at their own pace through online activities, videos, quizzes, and more. The workshops focus on increasing health literacy, empowerment and self-advocacy within the community. For more information or to access the workshops, click here.


NORD

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.


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