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Edition of 20 March 2020

International News

Wales: Second meeting of members of Cross Party Group for Rare, Genetic and Undiagnosed Conditions

Representatives of the rare diseases community in Wales, members of patients’ organisations, members of the National Society for Phenyketonuria and the Cystic Fibrosis Trust participated in the second meeting of the Cross Party Group for rare, genetic and undiagnosed conditions. They discussed the Action for Access report case studies and the difficulties to access medicines to patients. Participants convened that access to sapropterin and awareness concerning phenylketonuria would be raised during Assembly debate. Among recommendations contained in the Action for Access report are the development of a single flexible approach regarding making decisions on the access to medicines by the National Institute for Health and Care Excellence (NICE), the necessity for the country to make approved rare disease medicines available in the National Health System (NHS). They called on the government and industry to explain clearly the process for setting rare diseases prices.

2020 IRDiRC Roadmap

The International Rare Diseases Research Consortium, (IRDiRC), has launched its new roadmap for 2020 which is articulated in four actions, (i) a Chrysalis Project (identification of key criteria to boost industry research and development on rare diseases medicines), (ii) integrating new technologies for rare diseases diagnosis (identifying new development and technologies to increase diagnosis rate), (iii) shared molecular etiologies (to increase patients’ access to rare diseases clinical trials by focusing on shared molecular etiologies underlying multiple rare diseases), and lastly, (iv) to work, through a rare disease treatment access working group, on the access to treatments by all rare diseases patients, in low-and-middle-income countries.

Chan Zuckerberg Initiative for rare disease patients

In February 2020, Mark Zuckerberg, Facebook founder, and his wife, Dr. Priscilla Chan, announced a set of grants of $450,000 for 30 rare disease patients groups, through the Chan Zuckerberg Initiative, in the aim of building a model to tackle rare diseases and medical research. In 2016, the couple created the Chan Zuckerberg Initiative to rid the world of disease by 2100. Last year, the Initiative developed a programme to support the rare disease cause, focused on rare diseases patients and patient organisations with the slogan, “rare disease is anything but rare.” Convinced that the vast majority of rare diseases are not well understood, and that rare diseases patients are meeting many challenges, their project, “Rare as One” is committed to uniting the rare diseases community in the quest of treatments. Their approach is that rare diseases patients are already experts in their disease area, and that their contribution is welcomed to accelerate medical research. The Initiative will promote rare diseases patients’ capacity building and collaboration, providing support to strengthen these community.

European News

Germany is the 21st European country to join the 1+Million Genomes Initiative

Germany signed on 16 January 2020 the EU genomes Declaration which targets the access to at least 1 million sequenced genomes throughout the EU, and becomes the 21st European Member State to join the initiative. The 2018 Declaration stresses collaborative activities concerning human genomic data to improve prevention and personalised treatments, and for clinically impactful research. Germany’s integration was welcomed by Commission experts who highlighted the collective benefit of collaboration with Germany, for best treatments and diagnostics, and the improvement of health systems through innovation. In general, access to a mass of genomic data within Europe will advance research, understanding of diseases, development of new treatments, and will guide therapeutic intervention.

ELIXIR Converge project for better data management

ELIXIR has set up a three-year new project to improve data management amounting to €5 million. The project will put together the 23 Elixir Nodes and 29 research institutes from 22 European countries. The major areas of studies are data access challenges, provisioning and distribution for a data management strategy in line with international standards, and a future beyond national data management which will include life sciences areas, for example human genomics. ELIXIR Europe is leading life science organisations and bioinformatics resources within its member states and through the management and safeguarding of the data volume in the field of public research. ELIXIR also gives access to industry and academia users to vital services for their research.

Health Economics

First end-to-end cost-effectiveness exome sequencing analysis on rare diseases

The first cost effectiveness exome sequencing and usual diagnostic analysis on rare diseases in children revealed that the use of exome results in a gain in quality, and in the ratio of cost effectiveness, in relation to cost and health outcomes. In the case of cascade testing at the level of first-degree relatives, the cost-effectiveness increased. As a conclusion, cost-effectiveness is observed in exome sequencing data analysis regarding for example suspected monogenic disorders, parental reproductive outcomes, and cascade testing in first-degree relatives.

Orphan Drug

Japan granted orphan drug designation to a German therapy, Teponitib

A German leading science company, Merck KGaA, announced the designation of an orphan drug, Teponitib, by a Japan program. Teponitib is for patients with non-small cell lung cancer (NSCLC), and has highly selective mechanism of action and is treating aggressive tumors with a poor prognosis. The Japanese program is designated to promote research and development of orphan drugs for diseases in general, and for rare diseases, especially for unmet medical needs.

Novel approaches on Genetic Skeletal Disorders being developed despite rare diseases drug development challenges

In an article published by the Orphanet Journal of Rare Diseases, researchers reviewed 140 articles and 80 trials from government databases to deduce that therapies on genetic skeletal disorders (GSDs) are still being developed using novel approaches, such drug repurposing and in-utero stem cell transplants, despite rare diseases drug development challenges. Amongst the results of the systemic review are the identification of over 20 personalised therapies, many novel molecules that are modifying treatments of 25 GSDs, and the conclusions about inherited bone dysplasias which shared similar pathophysiological and molecular pathways. The systemic review on GSDs will contribute to the development of potential therapies. Researchers pointed out the need of more collaboration among academic researcher centers, hospitals and pharmaceutical groups to address regulatory and safety issues for medicines development.

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation February 2020

The COMP adopted 6 positive opinions recommending the following indications for designation as orphan medicinal products to the European Commission:

• Haematopoietic stem cell transplantation
• Chronic myeloid leukaemia
• Biliary tract cancer
• Pancreatic cancer
• Facioscapulohumeral muscular dystrophy
• Autosomal recessive congenital ichthyosis

Consult the meeting report

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation January 2020

The COMP adopted 12 positive opinions recommending the following indications for designation as orphan medicinal products to the European Commission:

• Myelofibrosis
• Inherited retinal dystrophies
• Duchenne muscular dystrophy
• Malaria
• Multiple myeloma
• Myelofibrosis
• Peripheral T-cell lymphoma
• Immune thrombocytopenia
• Epidermolysis bullosa
• Inherited retinaldystrophies
• Amyotrophic lateral sclerosis

Consult the meeting report

Meeting highlights from the Committee for Medicinal Products for Human Use 27-30-01 January 2020

EMA’s human medicines committee (CHMP) recommended one medicine at its January 2020 meeting for:

• Givlaari* (givosiran), the first treatment for acute hepatic porphyria in adults and adolescents aged 12 years and older. Acute hepatic porphyria is a rare life-threatening genetic condition that causes attacks of severe abdominal pain, vomiting and nervous system disorders, such as seizures, depression and anxiety.

Ethical, Legal and Social

Exome sequencing for a rapid diagnostic in case of children rare genetic diseases: how parents value it.

Experts administered a survey to parents of children living with genetic rare diseases who benefited from exome sequencing and received a diagnosis with the aim of to examine how parents and families value exome sequencing. The results showed that earlier access to exome sequencing effectively reduces the diagnostic odyssey and costs for families. Experts recommended that the value of exome sequencing should be explained to parents long before its incorporation into care for rare diseases patients.

Quality of life

Sources of trauma for children living with Epidermolysis Bullosa

Children living with Epidermolysis Bullosa (EB), as well as their caregivers and families, have a daily life full of challenges as regards both the medical context and in their community. EB is a group of rare inherited genetic skin disorders. To name a few, the children living with EB, from moderate to severe forms, experience extensive wounds and other complications, blisters and skin erosion, other extracutaenous complications, and significant amounts of medical trauma. Sources of EB trauma were identified to help families and the healthcare system to build the resilience for the children affected with EB and caregivers. Providers can limit retraumatisation by providing short-term interventions, and should be offered adequate training sessions. Clinical research, on short and long-term medical care, targeting children EB patients and their families, should be conducted.

Bioinformatics and biotechnology

ELIXIR formal process to identify Core Data Resources

ELIXIR, whose main goal is to bring together life sciences resources in Europe, identified 19 Core Data Resources, through a formal process, from a broad range of data resources types, that are focused on various life sciences themes, such as literature science, gens and genomes, chemistry, proteins, and molecular structures and interactions. ELIXIR Europe is leading life science organisations and bioinformatics resources within its member states and through the management and safeguarding of the data volume in the field of public research. ELIXIR also gives access to industry and academia users to vital services for their research. Among the identified data resources are Europe PMC (life sciences articles, books and clinical guidelines), Orphadata (comprehensive and high-quality data on rare diseases), UniProt (comprehensive data on protein sequence and annotation data), or ArrayExpress (data on functional genomics experiments). The ELIXIR Core Data Resources identification process will help measuring data resources’ impact and identify a large resource ecosystem crucial to the larger data infrastructure.

More than 20 countries are contributing to the work of ELIXIR in putting together all available life sciences data. ELIXIR European data resources represent a fraction of worldwide life sciences data resources. A number of members of ELIXIR Core Data Resources are also members of other international consortiums.

Summary of the edition of 20 March 2020

Editorial
Political news
Scientific news
And also...