Collaborating With The Rare Disease Patient Community Global

We transform our science to make a meaningful difference to the lives of people living with rare diseases. We collaborate with the rare disease patient community to gather evidence and quality-of-life data that ensures our scientific discoveries, clinical studies and support solutions accurately address their needs. One example of this is our collaboration with the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) and 14 national fibrodysplasia ossificans progressiva (FOP) patient organizations to co-create the first ever survey investigating the true impact... We work together with the rare disease patient community around the world on a range of different projects, across all stages from research and development, clinical study information, and patient support programs. We collaborated with PBCers in the USA, the Canadian PBC foundation, and the UK PBC foundation, on a co-created symposium at the American Association for the Study of Liver Diseases (AASLD), entitled ‘Living with... The symposium raised awareness of the unique needs of people living with PBC among healthcare professionals, emphasizing the importance of looking ‘beyond the chart’ to understand the needs of people living with PBC and...

Corresponding Author: Begonya Nafria Escalera bnafria@sjdhospitalbarcelona.org Received 2020 Jul 21; Revision requested 2020 Sep 30; Revised 2020 Nov 22; Accepted 2020 Dec 20; Collection date 2021 Mar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work, first published in JMIR... The complete bibliographic information, a link to the original publication on http://formative.jmir.org, as well as this copyright and license information must be included. Rare disease communities are spread around the globe and segmented by their condition. Little research has been performed on the majority of rare diseases.

Most patients who are affected by a rare disease have no research on their condition because of a lack of knowledge due to absence of common groups in the research community. We aimed to develop a safe and secure community of rare disease patients, without geographic or language barriers, to promote research. We work with national, international and regional alliances around the world as part of our mission to improve the health and well-being of patients living with rare diseases. In addition to the global initiatives listed below, NORD Membership is available for rare disease organizations that serve patients at the national or pan-regional level that meet our qualifications. Learn more about membership. As part of our partnership with Rare Diseases Europe (EURORDIS), NORD acts as the national sponsor for the global Rare Disease Day campaign.

We work with our partners internationally to recognize, celebrate and generate attention for rare diseases on this annual day of awareness, held each year on the last day of February. Learn more about Rare Disease Day in the U.S. As a global alliance of patient organisations, RDI brings together national and regional rare disease groups and federations to ensure greater equity for all persons living with a rare disease and their families across... RDI advocates for rare diseases as an international policy priority, represents persons living with rare disease and their families at international institutions and on global platforms, and supports the empowerment of its members through... Learn more about RDI. International Rare Disease Research Consortium (IRDiRC)

The International Rare Diseases Research Consortium (IRDiRC) unites national and international governmental and non-profit funding bodies, companies (including pharmaceutical and biotech enterprises), umbrella patient advocacy organizations, and scientific researchers to promote international collaboration and... Importantly, the coverage of the Consortium is global and involves stakeholders from Africa, Asia, Australia, North America, and Europe. Learn more about IRDiRC WASHINGTON D.C., Jan. 23, 2025 /PRNewswire/ — The Global Genes Corporate Alliance, an initiative that brings together biopharmaceutical companies and academic institutions working to improve access and treatments for people with rare diseases, today released a white... The white paper, Early and Often: Reimagining Patient Community Engagement to Improve Clinical Trials Feasibility, argues that by adopting a patient-centric approach, biopharmaceutical companies can enhance protocol designs, improve recruitment and retention, and increase...

The white paper is available to download for free at globalgenes.org. It represents more than a year-long effort of the Global Genes Corporate Alliance and included the participation of members of Global Genes’ Global Advocacy Alliance. Drug developers often face clinical trial problems because of difficulty recruiting and retaining study participants. This can delay patient access to needed medicines and have economic consequences to drug companies through costly clinical trial protocol amendments, longer times before realizing revenues, and erosion of their opportunity for market exclusivity. Often, these delays result from a lack of understanding of what it is like to live with a specific rare disease, the daily challenges people with a condition face, and how clinical trial protocols... By engaging with the patient community before critical decisions about a therapy and studies of it are set, companies can identify obstacles and address them before they are put into place.

“Rare disease drug developers continue to waste precious time and millions of dollars because of their failure to engage early and often with the patient community,” said Wendy Erler, Vice President and Global Head... “This white paper makes a strong business case for why integrating the perspectives of people living with rare diseases into the discovery and development process will save time and money, ensure drugs are meaningful... In the intricate landscape of healthcare, patients with rare diseases often face a unique set of challenges. With approximately 11,000 rare diseases affecting almost 400 million people worldwide, the rarity and complexity of these conditions can lead to isolation and difficulties in accessing specialized care. However, the advent of artificial intelligence and remote accessibility technologies is beginning to transform the patient experience, offering new avenues for participation and empowerment. The World Health Organization defines a rare disease (RD), sometimes called an orphan disease, as a disease that affects fewer than 65 per 100,000 people.

Although a single RD may be rare, RDs collectively are not. Despite the name and diverse disease phenotypes, an estimated 10,800 RDs collectively impact more than 400 million individuals worldwide, constituting approximately 5% of the global population. Diagnosis and treatment of RDs frequently lag behind common conditions due to healthcare providers’ unfamiliarity with these diseases, often resulting in delayed or incorrect treatments. Consequently, patients often endure prolonged diagnostic journeys, with an average time to diagnosis of 6 years, and even longer for marginalized individuals. This journey termed the diagnostic odyssey, entails navigating numerous specialist visits, tests, and hospitalizations, leaving patients feeling isolated and unsupported. Even after receiving a diagnosis, patients with RDs often encounter limited or non-existent treatment options, with available treatments frequently being prohibitively expensive.

The approval process for drugs targeting RDs has been significantly expedited, particularly following the enactment of the US Orphan Drug Act in 1983. As of 2022, the US Food and Drug Administration (FDA) approved 882 orphan drug designations resulting in at least one FDA approval for use in 392 RDs. Nonetheless, this constitutes less than 5% of known RDs, leaving many RD patients without viable treatment options. For the orphan drugs used in treating RDs, the median cost exceeds USD 200,000 at market entry, resulting in substantial out-of-pocket expenses for patients and their caregivers. The exorbitant cost of these drugs presents significant financial barriers to patient access, emphasizing the urgent need for a more sustainable and equitable pricing framework to ensure affordable treatment access. Some argue that pharmaceutical companies establish monopolistic prices, protected by patent rights, to maximize profits, and others assert that these high prices are necessary to recoup research and development (R&D) and production costs from...

Moreover, the dispersed nature of the RD patient population poses challenges in enrolling, engaging, and retaining patients for research and clinical trials that are essential for developing new therapies. Many RDs still need to be better understood due to insufficient scientific studies on disease processes, natural history data, and clinically meaningful endpoints. Without quality patient data, designing and evaluating clinical trials become risky to invest in. Consequently, these challenges further diminish the success rate of drug discovery for RDs.

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