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Edition of 21 September 2022

International News

RDI's Operational Description of Rare Diseases

RDI, in collaboration with a global panel of experts, has developed an internationally endorsed Operational Description of Rare Diseases, which explains what diseases are considered rare, how many people are affected, and why the rare disease community requires specific attention. The Operational Description will serve as a common point of reference to improve the recognition of all rare conditions, inform a wide range of stakeholders, and allow a baseline to monitor change at local, national, and international levels.

This definition refers to a rare disease as a medical condition with a specific pattern of clinical signs, symptoms and findings that affects fewer than or equal to 1 in 2000 persons living in any WHO-defined region of the world. It also states that “Rare diseases include, but are not limited to, rare genetic diseases. They can also be rare cancers, rare infectious diseases, rare poisonings, rare immune-related diseases, rare idiopathic diseases and rare undetermined conditions. While the frequency of most rare diseases can be described by prevalence, some rare diseases, such as rare cancers and rare infectious diseases, can be more precisely described by incidence".

The description is part of RDI’s Memorandum of Understanding with the World Health Organization (WHO). RDI has thus developed a definition that recognises the distinct challenges, burden, and impact on Persons Living with a Rare Disease, their families, health systems, and society.

Australia: Rare Voices Australia Parliamentary Event

Rare Voices Australia’s (RVA) first face-to-face Parliamentary Event since the launch of the National Strategic Action Plan for Rare Diseases was held in early September. The event was hosted by the Chair of the Standing Committee on Health, Aged Care and Sport, Dr Mike Freelander MP. The Parliamentary Event was an opportunity for the rare disease sector to continue fostering strong relationships with all political parties and to welcome newly elected members of the 47th Federal Parliament, while introducing them to key rare disease issues. The gathering also celebrated RVA’s 10th anniversary and brought together key stakeholders, including Hon Ged Kearney MP, Assistant Minister for Health and Aged Care, Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care and Dr Monique Ryan, Member for Kooyong and Co-Chair, Parliamentary Friends of Australians Living with Rare Diseases. The event stressed the need for the entire rare disease sector to collaborate to ensure the ongoing successful implementation of the National Strategic Action Plan for Rare Diseases.

European News

ELIXIR’s 2021 Annual Report

ELIXIR has released its 2021 Annual Report. ELIXIR is an intergovernmental organisation that brings together life science resources from across Europe. These resources include databases, software tools, training materials, cloud storage and supercomputers. The goal of ELIXIR is to coordinate these resources so that they form a single infrastructure. This infrastructure makes it easier for scientists to find and share data, exchange expertise, and agree on best practices.

This annual report covers the efforts and achievements of over 800 experts from 22 ELIXIR Nodes, and highlights ELIXIR’s expertise in connecting people, data and resources. The report represents the midpoint in the 2019-2023 Scientific Programme and details the progress that has been made against ELIXIR’s long-term strategic objectives. In this report, it is noted that the Rare Disease Community Infrastructure Implementation Study was finalised, with the RD-Connect Genome-Phenome Analysis Platform regrouping nearly 1,000 genomic alignments being archived at the EGA. This project has helped enabling the H2020 Solve-RD project to expand and inclusion the visualisation of RNA-Seq data.

EURORDIS' new website

EURORDIS has unveiled its new website, which includes a wide selection of rare disease resources and materials, latest news and events, and information on EURORDIS’ programmes and initiatives. On the occasion of its 25^th anniversary, a special page is also dedicated to the EURORDIS’ major achievements and successes for the rare disease community, including the conduction of the 2030 foresight study and the consecutive publication of the Rare 2030 Recommendations as well as the adoption of the first-ever United Nations Resolution on Addressing the Challenges of Persons Living with a Rare Disease.

Orphan Drugs

Trends of clinical development of orphan drugs in China

A new study has been published in the Orphanet Journal of Rare Diseases on the clinical development of orphan drugs in China. The study reveals an increase of the number of rare disease clinical trials from 2013 to 2021, notably for phase I and II. This increase could be explained by incentives on the development of orphan drugs introduced by the Chinese government for pharmaceutical companies, including a policy on promoting drug innovation for rare diseases and the efficiency of clinical trials developed in 2015. The study also reveals that there is a gap to be filled in clinical trials and orphan drug development for rare diseases in China, as most of the trials only cover hemophilia. Moreover, the study shows a need for a more balanced distribution of medical resources between the different geographical regions in China to increase clinical trials across the country.

Stakeholders’ views on drug development for congenital disorders of glycosylation

A new study has been published in the Orphanet Journal of Rare Diseases to present the opinion of the congenital disorders of glycosylation community on drug development. The study reveals the existing gaps in the communication and information received by the families and professionals on the drug development and drug approval processes for these disorders. The study highlights that the results of clinical trials are often not effectively provided to families. The study also shows the will of the community to be included in research, highlighting the need to increase patient-centric research and projects for drug development purposes.

Screening and prenatal diagnosis

EURORDIS reiterates its call for harmonised newborn screening programmes across Europe

EURORDIS has reiterated its call for harmonised newborn screening programmes across Europe at the Czech EU Presidency technical meeting this summer. EURORDIS alongside the National Alliance for Rare Diseases in the Czech Republic (ČAVO) joined Vlastimil Válek, the Czech Minister of Health, national and European policy makers, researchers and civil society organisations at the technical meeting “Early Diagnosis of Patients with Rare Disorders in the EU: Crucial Role of the Newborn Screening”, to discuss EU action in the field of early detection and improve the newborn screening (NBS) systems in EU. The meeting also saw a discussion on the roadmap for the establishment of an NBS expert group, with the goal to help inform the European Commission and to act as a source for unbiased, evidence-based advice to support decision-making at a national level.

Preconceptions on newborn genetic screening in China

A new study has been published in the Orphanet Journal of Rare Diseases on the attitudes towards newborn screening in China. The study shows that the perceptions of newborn screening varies among the Chinese population, notably depending on education and family income. The study found that people with a higher level of education and income tend to have a more positive view on newborn screening. The study however shows that the majority of the population is willing to accept the development of newborn screening programmes in the country, but this will require increased education on the matter and lower testing costs.

Quality of life

Caregiver burden for spinal muscular atrophy

A new study has been published in the Orphanet Journal of Rare Diseases on the caregiver burden of children and adolescents with spinal muscular atrophy. The study reveals that parents suffer from a high level of psychological distress as informal caregivers including sleeping disturbances, as well as emotional and physical symptoms due to their situation. Moreover, a reduced quality of life was noticed doubled by financial problems. Parents reported the need for more information on their children’s condition and highlighted the importance of the relationship they have with the physicians and its impact on their perceptions of the disease and hopes for the future.

Summary of the edition of 21 September 2022

Editorial
Political news
Scientific news
And also...