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Edition of 26 February 2022

International News

India: Assessing the potential of the National Health Mission for rare diseases

A new study has been published in the Orphanet Journal of Rare Diseases aiming at exploring the potential of the National Health Mission (NHM) in India to integrate rare disease management. The NHM is one of the most important programmes initiated by the government of India to address the unmet medical needs of the population. The study analyses the Reproductive, Maternal, Newborn, Child, and Adolescent Health (RMNCH + A) section of the NHM to assess its potential for rare disease care. The study reveals that initiatives created within the RMNCH+A to avoid preventable maternal and child mortality can also help ensure prevention, data collection and continuum of care for rare diseases. However, a rare disease focused plan would provide more accurate diagnosis and more specialised treatments for rare disease patients in the longer term. One of the most important limits of the NHM for rare disease treatment is that it provides support to neonatal and child health up to 18 years of age only, while the majority of rare diseases are lifelong conditions requiring long-term advanced support and resources. The NHM can thus mostly support screening and identification of potential cases, while a more focused pattern is necessary for the future of rare disease patients.

United States: The Undiagnosed Diseases Network’s experience in genomic testing for rare diseases

A new study has been published in the Annual Review of Medicine journal on the Undiagnosed Diseases Network (UDN) experience in performing next-generation sequencing for rare disease diagnosis. The study aims to analyse the current state of genomic testing within the UDN and the role of emerging technologies such as RNA to improve diagnostic rates. The UDN was established in 2014 and is funded by the National Institutes of Health (NIH) as a collaborative effort to achieve diagnosis for complex medical cases. It has implemented clinical genetic testing techniques and emerging technologies such as whole-genome sequencing, RNA sequencing and long-read sequencing to improve diagnostic rates for rare diseases. The UDN has been a leader in implementing whole-genome sequencing for rare disease diagnosis, and the study reveals that this sequencing was responsible for 45% of the diagnoses in cases with prior nondiagnostic whole-exome sequencing, leading to faster diagnosis, improved outcomes, and decreased cost of care. The study thus stresses the importance of integrating whole-genome sequencing into mainstream practice.

The study also reveals that RNA sequencing is promising to improve diagnostic rates for rare diseases, particularly when it complements whole-genome sequencing. However, while RNA has improved diagnostic rates for the UDN, the study stresses that there is a need for a standardisation of techniques and interpretation criteria to be widely accepted in clinical settings.

European News

Revision of the EU general pharmaceuticals legislation: Public consultation outcome

In view of the adoption of the revision of the general pharmaceuticals legislation on medicines for human use in 2022, including on orphan medicinal products, the European Commission has published a summary of the outcome of the public consultation it held on this matter between 28 September and 21 December 2021. The public consultation aimed to collect views of stakeholders and the public in order to support the evaluation and the impact assessment. This factual summary provides an overview of the number of responses, the type of respondents, identified campaigns and the topics and concerns raised. Rare diseases were identified as one of the fields of particular concern for respondents. Most respondents expressed the need for better genetic testing for approval of oncology therapies; the need to ensure equal access of medicines and consider local capacity perspectives (i.e. hospital pharmacies) and the need to use real-world evidence to generate information on access, availability, patients’ needs and response to treatments.

These views echo EURODIS’ press release on the emerging perspectives for improving the treatment of rare diseases in the light of the upcoming revision of the EU’s general pharmaceuticals legislation. EURORDIS called for a more coordinated approach to address the unmet medical needs of people living with a rare disease in order optimise the design and facilitate the conduct of clinical trials. It also called for a better access to gene, cell and tissues therapies, as well as a more resilient and attractive regulatory system in Europe.

A new Regulation replacing Directive 2001/83 and Regulation 726/2004 is expected to be adopted in Q4 2022.

Rare Diseases Research Challenges call: Launch of the Digital Tools for Rare Disease project

The EJP RD has announced the launch of the Digital Tools for Rare Disease (DT4RD) project following its Rare Diseases Research Challenges call in partnership with Fondation Maladies Rares. The DT4RD is a three-year project developed to meet the first challenge of the call: develop a non-invasive tool for measuring rare disease patient mobility. It brings together a multinational consortium consisting of Aparito, Paris Institut de Myologie, the John Walton Muscular Dystrophy Research Centre at Newcastle University, Yumen Bionics, Metabolic Support UK, along with biotechnology and pharmaceutical industry partners, CSL Behring and Chiesi Pharmaceuticals, who will both serve as the sponsors of the project. The project consortium will develop a digital platform capable of assessing upper limb function remotely and continuously, capturing the point between being ambulant and non-ambulant, a pivotal juncture in the progression of rare diseases which is often not accounted for with the use of conventional clinical methodology and tools.

Health Economics

Patients' access to rare neuromuscular disease therapies across US private insurers

A new study has been published in the Orphanet Journal of Rare Diseases comparing patients’ access to rare neuromuscular disease therapies across different US private insurers. The study reveals that US private insurers often apply coverage restrictions beyond the FDA label indication in their coverage policies for a set of rare neuromuscular disease therapies and use different criteria in their coverage policies for the same products. The study thus highlights that patients with different insurers have variable access to the same therapies, making it difficult to move from a private insurer to another. These differences may result in challenges to patients’ access to care, including important delays and expenses.

Orphan Drugs

Overview of the European Union electronic Register of Post-Authorisation Studies

A new article has been published in the Pharmacoepidemiology & Drug Safety journal providing an overview of post-authorisation studies performed in Europe from September 2010 to December 2018. The study analyses the post-authorisation studies recorded within the European Union electronic Register of Post-Authorisation Studies (EU PAS) launched by EMA in 2010. The study reveals that the majority of these studies are observational studies (86%) with a steady increase overtime. Orphan drugs were the focus of 12% of these observational studies. The study also reveals that orphan drugs were not commonly investigated using multi-database studies although they have much potential for the rare disease field given the small population sizes expected and the increasing need of merging data from different sources to speed up the development of these medicines.

Quality of care

Awareness and agreement with neurofibromatosis care guidelines among specialists

A new study has been published in the Orphanet Journal of Rare Diseases aiming at evaluating the level of awareness and agreement with the published neurofibromatosis clinical guidelines among neurofibromatosis specialists in the United States. The study reveals that the levels of agreement and awareness with the guidelines vary significantly. The majority of survey respondents did not strongly agree with 40% of assessed recommendations for care. The study shows the need to broadly disseminate these guidelines across medical specialties while prioritising evidence-based approaches when reviewing and updating the guidelines to ensure better agreement across specialists. The study also highlights the need to incorporate patients' and caregivers' perspectives in guideline development to ensure better access and implementation.

Screening and prenatal diagnosis

New neonatal screening system for congenital heart diseases in Luxembourg

In the framework of the National Plan for Rare Diseases (PNMR) of Luxembourg 2018-2022, the government has launched a new neonatal screening system for congenital heart diseases with the support of with Association Luxembourgeoise d'Aide aux Enfants Cardiaques (ALAEC). Since January 2022, neonatal screening for congenital heart diseases is carried out in all maternity wards and at home by midwives. This initiative aims at preventing this rare disease through an early diagnosis.

Ethical, Legal and Social

The 2022 Global Genes Rare Disease Equity, Diversity, and Inclusion Report

Global Genes has published its 2022 Rare Disease Equity, Diversity, and Inclusion Report. The report includes insights and challenges from stakeholders from across the rare disease community, highlighting issues that need to be addressed and the unmet needs. The report provides information about the most prevalent challenges facing the rare disease community today, including the health equity disparities exacerbated by COVID-19. The report also highlights the need for educational materials that are accessible and digestible for rare disease patient communities, the need for continuous education opportunities for medical professionals on how to best engage with rare disease patients as well as the importance of building trust between healthcare professionals and patient communities to improve communication, address the lack of resources, and increase diversity in clinical trials

Quality of life

Gender differences in quality of life in patients with neurofibromatosis type 1

A new study has been published in the Orphanet Journal of Rare Diseases on the gender differences in quality of life between women and men with Neurofibromatosis type 1 in Canada. The study reveals that women with neurofibromatosis type 1 reported worse NF1-related quality of life than men, with worse perceived physical appearance, anxiety, and mental health. The study highlights the need for healthcare providers to inquire about body image, physical appearance concerns, and mental health, especially among female patients with neurofibromatosis type 1 as generic measures of quality of life do not captures all domains relevant to patients.

Registries and biobanks

Analysis of the International Niemann-Pick Disease Registry

A new study has been published in the Orphanet Journal of Rare Diseases analysing clinical disease characteristics of patients with Niemann-Pick Disease Type C based on findings from the International Niemann-Pick Disease Registry (INPDR) from September 2014 to December 2019. The study focuses on the demographic, genetic and clinical features of the disease in European countries. The study reveals that the most commonly reported neurological manifestations were cognitive impairment (78.5%), dysarthria (75.9%), ataxia (75.9%), vertical supranuclear gaze palsy (70.9%) and dysphagia (69.6%). The study shows that the majority of patients showed moderate to severe impairments in all domains while severe presentation and rapid disease progression was observed in patients whose neurological manifestations appear at a younger age.

Data management

TEHDAS provides recommendations on semantic harmonisation for data interoperability

TEHDAS has published recommendations on semantic harmonisation for data across the European Union in order to ensure data interoperability and the use of data across borders for research and decision-making. The report contains a list of relevant standards for semantic and syntactic interoperability across the European Union and for the development of common data model.

Summary of the edition of 26 February 2022

Editorial
Political news
Scientific news
And also...