Rare Disease Week on Capitol Hill

by Joe Ternullo

I just returned from Rare Disease Week on Capitol Hill, a spectacular and unique event that Pulse Infoframe was privileged to support. Over 500 patient advocates trekked to Washington, D.C., last week for this extraordinary event that has grown steadily since the inaugural annual event in 2010. Their mission—to amplify the voice of those living with rare disease—a mission Pulse Infoframe endorses and supports fully.

Commencing Sunday, Feb. 24 and continuing through Thursday, Feb. 28, this was an organized, potent combination of a collection of great thinkers and the best that society offers – collegiality, active listening, accessible resources, and a shared strategy for moving forward.

Rare Diseases May Be Rare, But They Affect Millions

There are over 7,000 rare diseases. More than 30 million Americans live with a rare disease. Ninety-five percent of rare diseases do not have an FDA approved therapy. Much more work needs to be done to improve those numbers. Therefore, throughout the week, we all united around these three pillars:

  1. Support robust funding increases for NIH and FDA
  2. Reauthorize the Newborn Screening Saves Lives Act
  3. Join the bipartisan rare disease congressional caucus

Hats off to the Everylife Foundation, the NIH and to the cadre of US Senators, US Representatives and congressional staffers who gave of their time so freely to give voice to living with, caring for or otherwise supporting the rare disease community.

Rare Disease Research Needs to Speed Up

It was refreshing and inspiring to witness Washington, D.C., united in its resolve to accelerate clinical research and improve the lives of those living with rare disease. Christopher Austin, M.D. Director, National Center for Advancing Translational Science made the point that at the present rate of research, it would take over 2,000 years to develop appropriate treatments for all rare disease–a disturbing fact to all of us.

Sharing Stories and Knowledge

The week started with a wonderful Sunday welcoming reception at the Ronald Regan Building and International Trade Center. A documentary, My Turn, which tells the story of Scott Matzka, a former professional hockey player and his firsthand perspective on how his life changed upon being diagnosed with ALS, followed.

Thereafter came the following events and activities:

  • an informative conference, planning and exhibits, of which Pulse Infoframe was pleased to be a part
  • a Lobbying Day breakfast, followed by scheduled meetings with members of the House and Senate
  • a young adult meet-up Tuesday evening
  • a Rare Disease Congressional Caucus Briefing in the Russell Senate Office Building
  • a group photo on the Capital steps
  • a rare artist reception

Thursday, Feb. 28, International Rare Disease Day, was a daylong meeting at the National Institutes of Health in Bethesda.

Help End Rare Diseases

Far from a “one-and-done” annual event, there are ample opportunities to bring this community of interest together and to increase its ranks. To help educate the next generation of rare disease advocates, the Everylife Foundation is supporting Rare on the Road in Boston, Birmingham, Denver and Sioux Falls.

Surely, Rare Disease Week reinforces one’s faith in the goodness of human nature. If you are not involved, get involved. Don’t wait until next year. Pulse Infoframe will continue to be involved and we look forward to seeing you at future events.

Joe Ternullo is the head of business development for Pulse Infoframe, a member of NQRN Advisory Committee and Co-Chair of the Society for Participatory Medicine

Group photo at Capitol HillGroup photo on steps of Capitol Hill

About Pulse Infoframe Inc.
Focusing on rare disease, cancer and patient reported outcomes, Pulse Infoframe, a new style health informatics company, delivers real-time analytics and visualization to improve outcomes, generate real-world evidence, and provide data insights and precision knowledge. Pulse aggregates data from multiple sources, making it available to relevant stakeholders and offering numerous benefits including dramatically improved efficiency, productivity, and collaboration. Pulse Infoframe is headquartered in Canada, with offices in the United States, and India.

More information is available at www.pulseinfoframe.com

Newest Pulse Infoframe Collaborators

This summer, Pulse welcomed: Friedreichs Ataxia Research Alliance (FARA), a non-profit organization dedicated to curing Friedreich’s Ataxia and the related ataxias. The FARA registry will facilitate dialogue between the public and scientific communities globally and promote information exchange that drives medical advances.

Myonexus Therapeutics Logo

Myonexus Therapeutics, a clinical stage gene therapy company focused on treating distinct forms of Limb-Girdle Muscular Dystrophy, and Pulse Infoframe signed a multi-year agreement encompassing a multitude of Pulse products and services, including a global registry focused on identifying new treatment options for this devastating illness. These new initiatives demonstrate Pulse’s commitment to the rare disease and cancer communities, contributing what we can toward cures and quality of life improvement.

Myonexus Therapeutics Logo

This story first appeared in our February 2019 newsletter. Get Pulse Infoframe news delivered to your inbox. Email us to sign up today.

New Pulse Office, Added Staff, Conferences

Supporting this growth, Pulse Infoframe has added more specialist staff and moved to new, larger offices to better support its clients. In 2018, Pulse Infoframe attended, presented or exhibited at Patients as Partners, BIO2018, CDKL5 Forum, ESMO 2018 Congress, World Orphan Drug Conference, HIMSS2018, Society for Participatory Medicine Conference, DPharm and more. Look for us this year at the 15th Annual Columbia Business School Healthcare Conference, Patients as Partners EU, Patients as Partners US, Clinical Research as a Care Option, Patient Experience Symposium, BIO2019, and more.

This story first appeared in our February 2019 newsletter. Get Pulse Infoframe news delivered to your inbox. Email us to sign up today.

Updates on 2 Pulse Infoframe Registries

We have some exciting updates on two Pulse Infoframe registries.

Pan-Canada Cancer Registry

The success of the Canadian Melanoma Research Network, powered by Pulse and currently encompassing 10 major Canadian cancer centres of excellence, has resulted in a series of discussions to expand the registry to include breast, lung, prostate, and other cancers, transforming it to a powerful pan Canada cancer collaborative research network. At 2:50 to 4:10, see Dr. Scott Ernst, London Regional Cancer Program, present at the Global Melanoma Research Network and Real-World Evidence.

Preventing Sudden Cardiac Arrest in Children

Simon's Heart Logo

Taking the lives of thousands of children every year, Sudden Cardiac Arrest is the #1 killer of student athletes. Research shows that heart screenings, coupled with a good medical history and physical exam, are effective at detecting heart conditions and preventing sudden cardiac arrest. Simon’s Heart has screened over 18,000 children for undiagnosed cardiac disorders and changed over 120 lives. The data and images collected in the Simon’s Heart national youth cardiac registry are made available to qualified researchers free of charge.

This story first appeared in our February 2019 newsletter. Get Pulse Infoframe news delivered to your inbox. Email us to sign up today.

Two Pulse Infoframe Rare Disease Registries Expand Their Global Reach

Castleman Disease Collaborative Network Logo Orphan Disease Center Logo

Proving the power of global collaboration, the Castleman Disease Collaborative Network, an initiative dedicated to accelerating research and treatment for Castleman disease, convened 42 experts from 10 different countries to establish the first-ever treatment guidelines for idiopathic Multicentric Castleman Disease, based on data from over 300 iMCD patients. This landmark study was pre-published in Blood, the top hematology journal in the world.

The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania has launched a global registry for CDKL5 Deficiency, a severe epilepsy disorder with infantile onset. It involves cyclin-dependent kinase-like 5 (CDKL5), a protein whose gene is located on the X chromosome. The purpose of the registry, which has united hundreds of patients since its launch earlier this year, is to enable international collaboration to better understand CDKL5 Deficiency and to accelerate and improve clinical studies focused on developing new therapies to combat CDKL5.

This story first appeared in our February 2019 newsletter. Get Pulse Infoframe news delivered to your inbox. Email us to sign up today.

What’s up Down Under: Updates on Healthcare Innovation in Australia

Empowering 76,000 Clinicians in Australia With New Patient Insights

NSW eHealth Logo

The voice of NSW’s 7 million citizens is rising thanks to NSW’s forward-thinking leaders committed to improving patient care across Australia’s largest health system.

There is a lot of health care innovation in Australia where there has been a strong focus on listening to patients. Patients take centre stage in New South Wales (NSW), where evidence-based, clinically validated patient reported outcome measures (PROMs) and patient reported experience measures (PREMs) are being deployed across the entire health system. In a first-of-its-kind initiative globally, working with NSW Agency for Clinical Innovation and eHealth NSW, Pulse Infoframe is deploying 15 different PROMs and PREMs, empowering 76,000 NSW clinicians with new patient insights.

Empowering Patients With Colorectal Cancer

Bowel Cancer Australia is the leading community-funded NGO and patient advocacy organisation dedicated to prevention, early diagnosis, research, quality treatment and the best care for everyone affected by bowel (colorectal) cancer. Through the deployment of the International Consortium of Health Outcomes Measurement (ICHOM) Colorectal Cancer Standard Set, Bowel Cancer Australia is empowering patients with tools and knowledge, to be advocates for their own health and to express what matters most to them about their treatment and care. Colorectal cancer is the third most common cancer globally, affecting men and women, young and old. Pulse’s technology platform, with an enhanced e-healthie payment gateway for clinicians, facilitates the collection of valuable information direct from patients using standardised questionnaires to help clinicians better understand patient perceptions about the impact colorectal cancer has on their lives.

These two new Pulse clients join Ramsay Health Care hospitals in deploying the Pulse Infoframe technology platform to capture the patient voice in Australia through PROMs and PREMs. They’re two more examples of healthcare innovation in Australia.

This story first appeared in our February 2019 newsletter. Get Pulse Infoframe news delivered to your inbox. Email us to sign up today.

Society for Participatory Medicine Adds Pulse Infoframe’s Digital Tool-Set and Supercharges Corporate Member Benefit Offering

Patient Portals, Evidence-Based Patient Reported Outcome Measures, Health Registries, Real Time Analytics, & Data Visualization Capabilities Offering Augments Member Benefit

(Boston, Mass. and London, Ont., Oct 25, 2017) Senior executives from the Society for Participatory Medicine, the preeminent organization in promoting true partnerships between patients and healthcare professionals, and Pulse Infoframe Inc., a leading cloud-based healthcare data insights company, announced a partnership to promote the use of patient portals, patient reported outcomes, and registries to enable the open exchange of information between patients and caregivers.

“A growing body of research is showing that engaged and informed patients have better outcomes and reduced costs,” said Dr. Danny Sands, a co-founder and board chair of the Society for Participatory Medicine. The Society is a catalyst for positive change in healthcare and is thrilled to offer this new member benefit providing specialized pricing and domain expertise on an essential digital toolset that facilitates dialogue, enables needed ecosystems, and improves human health. I am delighted with our new relationship with Pulse Infoframe.”

“The Society for Participatory Medicine’s activities are routed in community, conversation, advocacy, research, and education. The Society’s mission and methods are fully aligned with Pulse Infoframe’s objectives. We are committed to serving the Society’s growing membership. Together, we can empower the voice of the patient and bring about a stronger, collaborative and learning healthcare system,” said Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse

Infoframe. “Through technology-enabled ecosystems, research, analysis, reporting and collaboration globally become easier, efficient and much less labor intensive.”

About the Society for Participatory Medicine
Created by a passionate group of professionals and patients with a vision to start a movement to transform the culture of healthcare, The Society for Participatory Medicine is a 501(c)(3) not-for-profit membership organization devoted to promoting the concept of participatory medicine, a movement in which activated empowered patients engage as drivers of their health, and in which providers encourage and collaborate with them as full partners in their care.  SPM does this by stimulating dialogue, influencing policy, advocating research, and educating patients, health care professionals, and others. SPM members include stakeholders from across the healthcare continuum.

More information is at participatorymedicine.org

About Pulse Infoframe Inc.
Focusing on rare disease, cancer and patient reported outcomes, Pulse Infoframe, a new style health informatics company, delivers real-time analytics and visualization to improve outcomes, generate real-world evidence, and provide data insights and precision knowledge. Pulse aggregates data from multiple sources, making it available to relevant stakeholders and offering numerous benefits including dramatically improved efficiency, productivity, and collaboration. Pulse Infoframe is headquartered in Canada, with offices in the United States, and India.

More information is available at www.pulseinfoframe.com

Global Melanoma Research Network, Save Your Skin Foundation and Pulse Infoframe Collaborate to Augment Collection of Patient Relevant Melanoma Data

Partnership to Result in Real Time Data to Inform Policy Makers, Advance Research and Benefit Those Living with Melanoma

(North Vancouver, British Columbia. and London, Ontario, July 12, 2017) Senior executives from the Global Melanoma Research Network, a not-for-profit organization dedicated to bringing together health professionals worldwide for the purpose of advancing melanoma research; Save Your Skin Foundation, a national not-for-profit patient advocacy group dedicated to leading the fight against skin cancer; and Pulse Infoframe Inc., a leading cloud-based health care data insights company, announced a partnership to augment melanoma data collection via evidence-based registries, patient portals, real-time analytics and data visualization.  It is believed that this partnership will result in new rich and relevant evidence to guide policy-makers in their fact-based decision making to improve the lives of those living with melanoma.

“Especially now, regulators and government policy makers need hard evidence to inform decisions. The Global Melanoma Research Network brings together researchers who collaborate to combat this vexing disease, and Save Your Skin Foundation has a decade long record of leadership and commitment to serving individuals living with melanoma,” said Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse Infoframe. “Pulse Infoframe’s dynamic registries enable the information needed to inform policy makers working to elevate policy that best serves the melanoma patient, provider and research communities.”

“The ability to tap into existing innovative and broadly deployed melanoma registries is another example of how Save Your Skin Foundation is advocating for patients,” said Kathy Barnard, Save Your Skin Foundation Founder and President. “As a melanoma survivor, I know first-hand the challenges that all involved face. The Save Your Skin Foundation is committed to serving this field, in all facets, and ultimately to eliminating melanoma. Our relationship with the Global Melanoma Research Network and Pulse Infoframe supports and advances these commitments.”

“What this is all about is the power of collaboration to effect positive change and help improve the lives of others,” said Scott Ernst, MD, co-founder of GMRN and Divisional Head of Medical Oncology at the London Regional Cancer Program. “It is critical that health care providers, researchers, patient advocates and policy makers work together to optimize policy and care delivery. Pulse Infoframe provides an enabling framework to facilitate those collaborative efforts which will lead to progress and ultimately in improved patient outcomes.”

 

About the Global Melanoma Research Network

The Global Melanoma Research Network (GMRN) was created as a not-for-profit organization in 2014, and is dedicated to bringing together health professionals worldwide for the purpose of advancement in melanoma research. GMRN was created as an expansion of the Canadian Melanoma Research Network , which was initiated in 2011 by Dr. Scott Ernst. The network consists of medical oncologists, surgeons, dermatologists, radiation oncologists, general practitioners of oncology, scientists, clinical research specialists, computer programmers, systems engineers, statisticians, health informatics professionals, and epidemiologists. This diverse network of professionals work together to improve the outcome and survival from this disease.

More information is available at www.wwmrn.org

 

About Save Your Skin Foundation

Save Your Skin Foundation is a national not-for-profit advocacy group dedicated to leading the fight against skin cancer through nationwide education, advocacy and awareness, while providing compassionate care and support to those touched by the disease. Save Your Skin Foundation is committed to ensuring equal, timely, affordable and appropriate access to skin cancer treatment for all Canadians; to playing an active role in reducing the incidence of skin cancer; and to provide compassionate support to those living with skin cancer, from melanoma to actinic keratosis. Headquartered in North Vancouver, British Columbia, the Foundation also operates in Montreal, Quebec and Toronto, Ontario.

More information is at https://saveyourskin.ca/

 

About Pulse Infoframe Inc. (Pulse)

Focusing on rare disease and cancer, Pulse is a new style informatics company delivering real-world insights and precision knowledge through dynamic analytics and data visualization to accelerate time-to-value. Pulse aggregates data, including patient reported outcomes, from multiple sources making it available to researchers and relevant stakeholders and offers numerous benefits including dramatically improved collaboration, informing decision making and leading to advances in treatment. Pulse is headquartered in Canada, with offices in the United States, the United Kingdom and India.  

More information is available at www.pulseinfoframe.com

Contacts:

Global Melanoma Research Network Save Your Skin Foundation Pulse Infoframe Inc.
Stephanie Jones Kathleen Barnard Joseph Ternullo, JD, MPH
1-888-787-8573 1-800-460-5832 1-888-78PULSE
sjones@wwmrn.org Kathy@saveyourskin.ca jternullo@pulseinfoframe.com

 

https://pressreleasejet.com/news/global-melanoma-research-network-save-your-skin-foundation-and-pulse-infoframe-collaborate-to-augment-collection-of-patient-relevant-melanoma-data.html

Penn Orphan Disease Center to Develop Rare Disease Patient Registries

Collaborative effort aims to hasten discovery of new treatments, share data on a global scale

 

Newswise — PHILADELPHIA – The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania will collaborate with Pulse Infoframe Inc., a medical informatics company, to develop rare disease patient registries aimed at enabling international collaboration to better understand these diseases, as well as accelerate and improve clinical studies to develop new therapies.

“Our aim is to unite the respective rare disease patient, foundation, pharma, biotech, and academic communities to overcome common obstacles in the process of developing new therapies for rare diseases,” said Ashley Winslow, PhD, senior director of the Orphan Disease Center (ODC) at Penn Medicine. “By building a strong foundation that facilitates communication between different communities of people with rare diseases, we have a unique opportunity to change the way patient communities can participate in research. We are building a global database that is very different from current databases built by an individual disease expert or lab.”

The collaboration will begin with registries for CDKL5 Deficiency and Crigler-Najjar syndrome. CDKL5 Deficiency, a severe epilepsy disorder with infantile onset, involves cyclin-dependent kinase-like 5 (CDKL5), a protein whose gene is located on the X chromosome. The CDKL5 gene provides instructions for making a protein that is essential in forming nerve cell connections for normal brain development, with mutations causing a deficiency in the protein level. Crigler-Najjar syndrome is a congenital familial disorder in which glucuronyl transferase, an enzyme, is deficient or absent.  The condition is characterized by nonhemolytic jaundice, an accumulation of bilirubin in the blood, and severe disorders of the central nervous system.

“Natural history data are essential in establishing best clinical practices and conducting pivotal clinical trials in rare diseases,” said James M. Wilson, MD, PhD, director of the Orphan Disease Center and a professor of Medicine and Pediatrics at Penn Medicine. “This partnership will help us address this important gap for CDKL5 deficiency and Crigler-Najjar syndrome, which are the first of many registries that the Orphan Disease Center will develop in collaboration with Pulse Infoframe.”

“The Orphan Disease Center’s commitment to empowering the patient voice globally represents a tremendous opportunity to intercept disease-causing processes as we learn more about each condition,” said Femida Gwadry-Sridhar, RPh, PhD, Pulse Infoframe founder and CEO.

# # #

Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation’s first medical school) and the University of Pennsylvania Health System, which together form a $6.7 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 20 years, according to U.S. News & World Report‘s survey of research-oriented medical schools. The School is consistently among the nation’s top recipients of funding from the National Institutes of Health, with $392 million awarded in the 2016 fiscal year.

The University of Pennsylvania Health System’s patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center — which are recognized as one of the nation’s top “Honor Roll” hospitals by U.S. News & World Report — Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital — the nation’s first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2016, Penn Medicine provided $393 million to benefit our community.

 

http://www.newswise.com/articles/penn-orphan-disease-center-to-develop-rare-disease-patient-registries

 

The Baim / Pulse Partnership to Result in Real Time Analytics, Visualization, and Rapid, On-Demand Data Mining to Benefit Patients and Trial Sponsors Faster

Senior executives from Baim Institute for Clinical Research, a leading non-profit academic research organization, and Pulse Infoframe Inc., a leading cloud-based health care data insights company, announced a partnership to augment clinical trials with evidence-based registries, patient portals, real-time analytics, and data visualization. Researchers believe the partnership will result in greater research productivity, which in turn should improve patient outcomes sooner.

“The Baim Institute’s principal investigators will be able to search their registries, correlate a myriad of data brought together in one registry through a few simple key strokes and obtain deep insights into the target population,” said Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse Infoframe. “Research, analysis, reporting and collaboration globally become easier, efficient and much less labor intensive.”

“For results of clinical trials to become standard medical practice takes an average of 17 years,” said Gwadry-Sridhar. “We hope our partnership with Baim Institute will help reduce that time by allowing researchers to dig deeply into data more easily.”

“The ability to deploy innovative registries that accelerate collaboration and define clinical value to improve patient outcomes is another example of how the Baim Institute is transforming clinical research through advanced technologies and partnerships,” said Spencer Goldsmith, Baim Institute’s President. “The Baim Institute is committed to the delivery of systems that efficiently collect and manage disparate data into actionable information that accelerates time to value. Our relationship with Pulse Infoframe supports and advances that commitment.”

About the Baim Institute for Clinical Research

The Boston-based Baim Institute for Clinical Research is a leading, not-for-profit academic research organization that delivers insight, innovation and leadership in today’s dynamic research environment. The Baim Institute collaborates with some of the world’s most highly respected researchers from renowned institutions to help advance health and quality of life around the world. Since 1993, the Baim Institute has worked on over 450 clinical trials in North America, Europe and Asia.

The Baim Institute is recognized for the design and execution of clinical trials for first-in-class medical devices. Examples of such include trials for the first approved drug-eluting stent, and the first approved transcatheter mitral valve repair device. In addition, Baim recently sponsored and completed the DAPT study, a large, FDA-mandated study that enrolled over 25,000 subjects, evaluating the use of dual antiplatelet therapy after stent implantation.

About Pulse Infoframe

Focusing on rare disease, cancer and patient reported outcomes, Pulse Infoframe, a data insights and precision knowledge company, delivers real-time analytics and visualization to advance knowledge, improve outcomes, generate real-world evidence and accelerate time-to-value. Pulse aggregates data from multiple sources, making it available to relevant stakeholders and offering numerous benefits including dramatically improved efficiency, productivity and collaboration. Pulse Infoframe is headquartered in Canada, with offices in the United States, and India.

More information is available at www.pulseinfoframe.com.