Edition of 06 October 2022

International News

IRDiRC announces the creation of a Regulatory Science Committee

The IRDiRC has announced the creation of a Regulatory Science Committee (RSC) to tackle regulatory challenges in rare disease research. The RSC includes 11 experts from around the world, representing multiple geographies and stakeholders from regulatory bodies, patient groups, biotech and pharmaceutical industry, public and non-for-profit organizations, clinicians and scientists. The mandate of the RSC will be divided into three key actions, including the contribution to IRDiRC Task Forces and Working Groups to better address regulatory questions and increase the impact of IRDiRC activities; multi-stakeholder interaction to identify pathways for regulatory harmonisation and foster clinical research and therapeutic development as well as identifying new regulatory questions.

International Conference on Clinical Research Networks for Rare Diseases

The IRDiRC and the EJP RD are jointly organising a two-day conference on clinical research networks (CRNs) for rare diseases, which will take place on December 1 and 2. The objective of this conference is to gather experts from different continents to increase mutual knowledge on CRNs structure, activities and identify pathways to stimulate collaboration and interoperability of these networks. To register for online participation, you can complete this registration form.

Tanzania: A national call for action to address policy and urgent needs of individuals with rare diseases

Ali AKRDF and Tanzania Human Genetics Organization and other partners who participated to the 2020 Rare Disease Day event in Tanzania have published a call for action to address policy and urgent needs of individuals with rare diseases in the country. This call has been published in the Orphanet Journal of Rare Diseases and is based on the recommendations made by the participants during the event, which saw the participation of government representatives. The call notably recommends to conduct a census survey to generate demographic data of people with RDs in the country; to strengthen provision of diagnostic, treatment and management services for people with rare diseases and to improve healthcare financing; to develop policies that will cater for provision of public education and advocacy on RDs to subsequently reduce stigma and finally to support research, innovation and public private partnerships for RDs. These recommendations are aligned with the call for global action for RDs in Africa as well as the UN Resolution on people living with a rare disease. These recommendations aim at shaping national policies and regulations on rare diseases in order to improve the management of these diseases and ensure a better quality of life for patients.

European News

EMA's announcement on biosimilar medicines interchangeability

EMA and the Heads of Medicines Agencies (HMA) have issued a joint statement confirming that biosimilar medicines approved in the European Union (EU) are interchangeable with their reference medicine or with an equivalent biosimilar. While interchangeable use of biosimilars is already practiced in many Member States, this joint position harmonises the EU approach. It brings more clarity for healthcare professionals and thus helps more patients to have access to biological medicines across the EU. Interchangeability in this context means that the reference medicine can be substituted by a biosimilar without a patient experiencing any changes in the clinical effect.

EJP RD annual meeting

EJP RD held its annual General Assembly and Consortium Meeting on 13-15 September 2022 in Porto, Portugal. The event gathered over 100 participants from various institutions across Europe and associated countries. It was an opportunity to bring back together EJP RD members to meet in-person. Areas of discussions included collaboration, innovation, data, funding & empowerment in order to provide effective rare diseases research for the rare disease community.

Quality of life

Burden of phenylketonuria in Latin American patients

A new study has been published in the Orphanet Journal of Rare Diseases on the burden of phenylketonuria in Latin American patients. The study aims at assessing the impact of the disease both on patients and health care resources of the countries. The study reveals that symptoms of the disease, including speech and language deficits as well as sleeping disorders and skin alterations represent a significant burden on the patients. The results of the study also show that phenylketonuria has a significant impact on their socioeconomic life, including due to poor school performance and the need for special education.

Health-related quality of life of X-linked hypophosphatemia in Spain

A new study has been published in the Orphanet Journal of Rare Diseases on the health-related quality of life of patients with X-linked hypophosphatemia in Spain. The study reveals that the condition has a negative impact on the quality of life of both paediatric and adult patients. The study also shows that treatment received by the patients do not improve their quality of life as it has no impact on natural history of the disease. These findings highlight the need for the development of patient-reported outcomes measuring the quality of life in patients with X-linked hypophosphatemia.

Registries and biobanks

Lessons learned from the IRD-PT registry

A new study has been published in the Orphanet Journal of Rare Diseases to present the lessons learned from the IRD-PT registry, a national, web-based, interoperable registry for inherited retinal degenerations (IRDs) put in place in Portugal. The study aims at identifying the factors and challenges behind the adoption for the registry at the national level. The study reveals that although there is a high number of enrolled patients, the registry is not being widely used in health centres across Portugal. The study shows that in order for these centres to adopt the registry, it is necessary to make the interface more user-friendly and less time consuming for users. The study also highlights the importance of integrating other international IRD registries and to use the data from the registry to develop multi-center studies.

Bioinformatics and biotechnology

Quality assessment of mobile apps for people with rare diseases

A new study has been published in the Journal of Medical Internet Research assessing mobile apps for people with rare diseases through the Mobile App Rating Scale (MARS). The study reveals that mobile apps dedicated to rare diseases mostly cover cystic fibrosis, hemophilia and thalassemia, and are dedicated to track symptoms and provide information on the conditions. The study reveals that although these apps can be useful for patients, notably in providing information on their disease, they remain hard to find and not easily identifiable for patients in app stores. The study also recommends that app designers focus on social support services and use a higher quality sources of information, checked by medical professionals. The study highlights the need to include advocacy groups in the development of such apps in order to guarantee that the needs of the patients are met.

Summary of the edition of 06 October 2022

Editorial
Political news
Scientific news
And also...