IRDiRC has published a new article about barriers and considerations for diagnosing rare diseases in Indigenous populations
A new article focusing on the barriers and considerations for diagnosing rare diseases in Indigenous populations has been published by the International Rare Disease Research Consortium (IRDiRC) in Frontiers in pediatrics in December 2020.
The vision of the International Rare Disease Research Consortium's (IRDiRC) multi-stakeholder partnership is to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to make steps towards fulfilling this goal, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples.
This article provides an overview of the state of play of current barriers and considerations identified by the taskforce, to further stimulate awareness of these issues and to work towards solutions.
United States : NORD applauds bipartisan progress to protect millions of rare disease patients from unexcepted and financially crippling medical expenses
New legislation to protect patients from surprise medical billing have been passed, after more than a year of negotiations in Congress and advocacy from NORD and patient coalition partners.
At least one surprise medical bill was encountered for after nearly 20% of emergency department visits and 16% of admissions at an in-network hospital. However, patients with rare diseases are particularly vulnerable to the practice of surprise medical billing since a majority of rare diseases have no treatment, leaving many rare disease patients forced to seek emergency care to treat their symptoms. Moreover, rare disease patients may have fewer options to find a provider with expertise in their medical condition.
Being able to afford surprise medical bills was an significant concern for two-thirds of Americans before the pandemic, and became one of the major concerns of patient living with a rare disease during the pandemic.
The provisions to end surprise medical billing were included in bipartisan legislation providing additional COVID-19 relief and to fund the federal government through 30 September 2021. The new changes to end the practice of surprise medical billing nationally will enter into force in 2022.
United States : NORD publishes COVID-19 community follow-up survey report
The National Organization for Rare Disorders (NORD) is the leading independent advocacy organisation representing over 25 million Americans affected by a rare disease. NORD is committed to the identification, treatment and cure of the more than 7,000 rare diseases, of which approximately 90% are still without an FDA- approved treatment or therapy.
In May 2020, NORD published findings demonstrating that early in the COVID-19 pandemic people with rare diseases and their families were seeing tremendous disruptions to their health care and welfare. A second NORD survey was conducted in June 2020 and some findings were compared across the two surveys.
Among the 833 respondents, 79% have experienced canceled medical appointments, 32% have had challenges accessing medical care and treatment,14% have had difficulties accessing medical supplies and devices, 14% have experienced issues accessing medication for their rare disease, 12% of whom can no longer afford it, 37% of households have been impacted by a loss of income, 27% of households have experienced job loss, and 62% are concerned with medication supply shortages.
Since the start of the outbreak, access to telemedicine has increased in part due to advocacy efforts. Responses indicate that telehealth offers improved access to medical care and can enhance patients’ experiences, even after the COVID-19 crisis has ended.
United States : NORD highlights new era of innovation and public health awareness in virtual 2020 Rare Diseases and Orphan Products Breakthrough Summit
The 2020 Rare Diseases and Orphan Products Breakthrough Summit on "Entering a New Era” was held online on October 8 and 9, 2020 with 900 registrants from more than 20 countries around the world. A summary of this impactful rare disease conference in the United States has been published on NORD website.
The two–day event kicked off with a greeting from NORD’s President and CEO Peter L. Saltonstall, followed by a moving patient/caregiver opening address. Moreover, in his keynote, US Food and Drug Administration (FDA) Commissioner Stephen Hahn, MD touched on topics including COVID-19, the collaboration between NORD and FDA on patient listening sessions and in rare disease research, and the 51 orphan indications covering a broad range of rare diseases that have been approved by FDA through July 2020.
United States : NORD drives rare disease progress through patient-powered data with IAMRARE™ registry members
IAMRARE™ is a registry program, launched in 2014 by the National Organization for Rare Disorders (NORD®), which supports longitudinal data collection efforts for over 40 rare conditions, with more than 11,000 participants to date. The aim of the NORD’s IAMRARE registry program is to address knowledge gaps by building cooperation with leading scientific experts and the rare community.
NORD continued to drive research and innovation through the IAMRARE™ registry in collaboration with rare disease community partners. In addition to new partnerships, NORD has launched natural history studies for undiagnosed patients and for the metachromatic leukodystrophy, arachnoiditis, moyamoya, and necrotizing enterocolitis patient populations.
Moreover, new studies will be launched soon in collaboration with several organisations such as the Appendix Cancer Pseudomyxoma Peritonei Research Foundation, Helping Hands for GAND, Inc., or the COPA Syndrome Foundation.
Canada : The Patented Medicine Prices Review Board (PMPRB)’s new guidelines will take effect in 2021
The Canadian Patented Medicine Prices Review Board (PMPRB) was created in 1987 as the consumer protection “pillar” of a major set of reforms to the Patent Act. These amendments aimed to strengthen patent protection for medicines, both in terms of the scope of patentable subject matter and length of the patent-derived exclusivity period. The PMPRB is a quasi-judicial body with a regulatory mandate to prevent pharmaceutical patentees from charging consumers excessive prices during the statutory monopoly period.
Pursuant to subsection 96(4) of the Patent Act, the PMPRB issues guidelines which are intended to provide transparency and predictability to patentees regarding the process typically engaged in by public servant employees of the PMPRB in seeking to determine whether a patented medicine appears to be priced excessively in any market in Canada.
On 21 November 2019, the PMPRB published a draft set of new Guidelines for consultation with stakeholders and the public. In response to the feedback received during the consultation period, the PMPRB has made a number of substantive changes to the November 2019 Draft. These changes are reflected in a second draft set of Guidelines published on 19 June 2020.
The updated PMPRB Guidelines will come into force on 1 July 2021.
