Edition of 05 August 2022

International News

RDI's side-event to the High-Level Political Forum 2022

On 6 July 2022, Rare Diseases International (RDI) held its second formal side-event to the High-Level Political Forum on Sustainable Development. The gathering was co-sponsored by the Office of the High Commissioner for Human Rights (OHCHR) and the Permanent Mission of Spain to the United Nations (UN), and organised with the NGO Committee for Rare Diseases and EURORDIS-Rare Diseases Europe. The agenda highlighted how women and girls living with a rare disease are disproportionately discriminated against, both as persons living with a rare disease and/or as caregivers.

Speakers included representatives from the OHCHR and the UN Committee on the Elimination of Discrimination Against Women (CEDAW). Rare disease patient advocates from around the world also provided testimonies on the multiple forms of discrimination faced by women with a rare disease. Participants discussed how addressing this additional intersectional factor of discrimination can advance Gender Equlity (SDG 5) and support the implementation of the UN Resolution on “Addressing the challenges of PLWRD and their families”, adopted in December 2021.

The recording of the event is available here.

An optimal approach to rare disease management based on national experiences in Europe, North America and East Asia

A new study has been published in the Rare Diseases and Orphan Drugs Journal presenting transdisciplinary approaches to managing rare diseases in Europe, North America and East Asia coordinated by the national governments. The study compares the national rare disease plans in Germany, Spain, the UK, France, Japan, Canada and the US.  The aim of the study is to find an optimal approach in rare disease management that can be considered in multi-national rare diseases programmes such as the EJP RD. The study identifies the functioning of each national plan, including the source of funding, the national register and the centres of expertise while highlighting the strengths and limitations of each approach. Based on this comparison, the study reveals an outline for an optimal approach in terms of regulations, funding, centres of expertise, gene identification, registries, and public-private partnerships.

European News

EURORDIS publishes a Joint Statement with EFPIA on proposals to improve patient access to medicines

EURORDIS and EFPIA have published a Joint Statement on Patient Access to Medicines for Rare Diseases. The statement is based on an 18-month structured dialogue between the two organisations focused on identifying proposals that can improve access to orphan medicines across Europe. At the same time, the statement recognises areas where the two organisations have different perspectives. Three sets of proposals are put forward – increased equity of access for patients and solidarity between Member states, improved HTA and Pricing and Reimbursement (P&R) processes and accelerated needs-led innovation. This included a proposal for a conceptual framework for international differential pricing, Equity-Based Tiered Pricing, to address affordability constraints in lower-income EU countries. The proposals also include the launch of an industry Commitment to File and European Access Porta by EFPIA to address the root causes of unequal and delayed patient access in collaboration with EU Member States and other stakeholders. Enhanced EU-level and cross-country collaboration for OMPs is highlighted, with a call for greater use of adaptive pathways and RWE in value assessments. EURORDIS and EFPIA also support the adaptation of country-level HTA and P&R frameworks to the specificities of rare diseases. EFPIA also made a commitment to “a moonshot to develop science for rare diseases”, in underserved areas of translational research for adult and paediatric rare diseases.

Switzerland: Adoption of motions on rare diseases by the National Council

The National Council of Switzerland has adopted two motions on the management of rare diseases in the country. The first motion deals with the “Sustainable funding of public health projects of the national rare disease concept” and aims at filling the current gaps in service provision within public health networks, diagnostic centres and centres of reference for rare diseases. It also addresses the sustainability of the funding dedicated to Orphanet as a provider of rare disease information as well as the Swiss rare disease registry.  A second motion entitled “Strengthening and funding of patient organisations in the field of rare diseases” and aimed at enhancing the capacities of patient organisations and insuring their ability to be financed service contracts has also been adopted by the National Council . This motion designates ProRaris as the main partner for patient participation. The motion has yet to be adopted by the Council of States.

Screening and prenatal diagnosis

Parents’ attitudes towards population-based expanded carrier screening for genetic disorders

A new study has been published in the Prenatal Diagnosis journal on the views of patients and parents of children with genetic disorders on population-based expanded carrier screening. The study focuses on children with a recessive disorder and children with Down syndrome and their parents. The study reveals that as opposed to parents of children with a recessive disorder, parents of children with Down syndrome are less inclined to use population-based expanded carrier screening and they are more fearful of social discrimination. The study also shows that the attitude of the parents differs according to the severity of their child’s disease. Indeed, parents with a child suffering from a severe disease have a more positive view of population-based expanded carrier screening than those with moderate disorders. The study thus highlights the complexity behind parents’ views and decisions towards expanded carrier screening.

Quality of life

Patient-reported outcomes and disease burden in epidermolysis bullosa simplex

A new study has been published in the Orphanet Journal of Rare Diseases on the consequences of epidermolysis bullosa simplex on patients’ quality of life. The study explores the clinical manifestations of the disease and reveals that the symptoms, including significant pain, difficulty of walking and itching, have a negative impact on the quality of life of the patients. The study also highlights that disease symptoms differ depending on the age of the patient, with children more likely to require nutritional support while adults report difficulty walking. The study shows that these clinical manifestations can lead to mental health issues, including anxiety and depression, in addition to affecting the functional ability of the patients

The burden associated with Fabry disease and its treatment in 12–15 years old

A new study has been published in the Orphanet Journal of Rare Diseases on the consequences of Fabry disease and its treatment on the quality of life of children and adolescents aged from 12 to 15 years old. The study reveals that the symptoms of the disease, including pain and intolerance to heat or cold induce a significant burden on this population. These symptoms affect their quality of life as well as their mental health. The burden placed on their caregivers is also significant due to the severity of the symptoms. The study shows that enzyme replacement therapy can help alleviate the consequences of these symptoms and improve the children’s health. However, the study also highlights that there is a need to increase access to larger options for treatment, notably due to heterogeneity in the symptoms related to Fabry disease.

Registries and biobanks

Lessons learned and achievements of the Fabry Outcome Survey

A new study has been published in the Orphanet Journal of Rare Diseases exploring the lessons learned from the Fabry Outcome Survey after its 20 years anniversary. The study explores the natural history of the disease provided by the registry and shows that the symptoms of the Fabry disease include neuropathic pain, angiokeratomas, proteinuria, angina and dyspnea, gastrointestinal symptoms, cerebrovascular events, or tinnitus and vertigo. The study also shows how the Fabry Outcome Survey improved the understanding of the impact of the disease on the quality of life of patients, also revealing that enzyme replacement therapy alleviates these consequences. The study highlights that the publications of the Fabry Outcome Survey helped increase researchers and physicians’ awareness on the disease. The study reveals that more accurate data about the disease is needed to expand disease knowledge, including for genotype.

Summary of the edition of 05 August 2022

Editorial
- Editorial
- European Reference Networks
Political news
Scientific news
And also...