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Edition of 09 February 2018

International News

Australian genomics policy framework

The Council of Australian Governments Health Council presents the 'Genomics Policy Framework' project which aims to harness the health benefits of genomic knowledge and technology into the Australian health system in an efficient, effective, ethical and equitable way. The Framework goals are to improve individual and population health by sharing their genomic information to contribute to national and international research efforts. The Framework addresses most particular issues and where further work is needed, while also recognising that stakeholders have a role in addressing issues independently.

The Framework engages the first action and will involve an ‘Implementation Plan’ that will show current activity, and identify gaps and opportunities. This new project will allow the Australian government to address current and emerging priorities as resources permit.

EURORDIS: show your rare video is out!

The official 'Rare Disease Day 2018' video has been launched on the 29 January 2018 by EURORDIS on their website and is available in over 30 languages.

The video features patients and family members, researchers and doctors who show 'their rare'. Stories of the patients starring in the video are available here. To show support to the rare disease cause, people can paint their face and send a selfie using the #ShowYourRare on social media during the month of February. Download the official poster to use at your events and add the #ShowYourRare facebook and twitter filters your profile pictures.

It is time to get involved and get ready for the upcoming 'Rare Disease Day' on the: 28 February 2018.

EuroGentest NoE: bringing scientists together

An article published in the European Journal of Human Genetics gives an insight into what has been accomplished since the creation of EuroGentest Network of Excellence (NoE) in 2005. EuroGentest was funded by the European Commission to develop the necessary tools, infrastructure and guidelines to harmonise and improve the quality of genetic services. The EuroGentest NoE has established a model in which many organisations became part of its activities such as Orphanet.

The European Society of Human Genetics-EuroGentest Committee was created in 2013. The different long-term European and international partnerships established by EUGT have ensured that the key messages developed by the NoE have been taken on board by the community, and that these efforts will continue.

Since 2005, Orphanet and EuroGentest have collaborated to provide complete and accurate information on quality management of genetic testing. Orphanet is recognised as the central European reference information source on genetic testing facilities for rare diseases and for both the public and the professionals.

Besides the collaboration with Orphanet, EuroGentest has developed:

A tool for self-evaluation for clinical geneticists;
A database containing 20 important diagnostic gene patents;
Partnerships with European and international organisations and institutions (Orphanet, EDMA, WHO, ECA...);
An Advisory Board with representatives of European and international organisations;
Guidelines for Next Generation Sequencing recently deserved IRDiRC Recognized resources table.

These efforts have let to the improvement of issues and the development of guidelines and best practice recommendations by EU-funded projects. Overall, external quality assessment and the harmonisation of tests have improved thanks to EuroGentest.

Drug development under the spotlight: developing targeted therapies

An article published in the journal Nature Review Drug Discovery enhances the need for ‘clear regulatory policy to address the challenges in developing targeted therapies for low-frequency molecular subsets of a disease’. The study highlights that targeted therapies hold great promise for improving existing treatments and that the Food and Drug Administration (FDA) is stepping forward to adapt and change the landscape of drug development and precision medicine by establishing appropriate regulatory science and policy.

myTomorrows and Emmaus Life Sciences Inc. to collaborate on Early Access Program for Sickle Cell Disease treatment in the EU, Turkey, Middle-East and South America.

Sickle Cell Disease is a hereditary blood disorder leading to debilitating episodes of crises and pain, potentially causing organ damage, strokes and a variety of other severe side effects.

In a recent press release, myTomorrows and Emmaus Life Sciences, Inc. (“Emmaus”) have announced the availability of an Early Access Program for pharmaceutical grade L-Glutamine (oral powder) for the treatment of Sickle Cell Disease patients that have exhausted other treatment options. This Early Access Program, currently run on a named patient basis, provides physicians in the EU, Turkey, Middle-east and South America with the possibility to prescribe L-Glutamine to eligible patients prior to authorization.

The L-Glutamine was approved in the US on 7 July 2017 for the treatment of Sickle Cell Disease in adult and paediatric patients 5 years of age and older.

“Patients with Sickle Cell Disease are facing a significant unmet medical need, with few satisfactory treatment options available globally. The approval of L-Glutamine in the US is an important milestone in the development of therapeutic alternatives for this disease area. We look forward to working with Emmaus to support early access for physicians and eligible patients in the EU, Turkey, Middle-East and South America.” says myTomorrows’ founder and CEO Ronald Brus, MD.
“Whilst we are working hard to achieve approval for L-Glutamine in Europe, we are proud to work together with myTomorrows to provide physicians and their patients in need in the EU, Turkey, Middle-East and South America with the possibility of early access,” says Yutaka Niihara, MD, MPH, Chairman and CEO of Emmaus.

About myTomorrows

About Emmaus

Bioinformatics

New method to estimate the frequency of rare diseases in radiology reports

A study published in the journal Studies in Health Technologies and Informatics uses two knowledge systems to estimate the use of natural language processing (NLP) techniques and ontology-based knowledge to help identify rare diseases from a large database of radiology reports. The authors used the Orphanet Rare Disease Ontology (ORDO) and the Radiology Gamuts Ontology (RGO) database to perform their study.

The study acknowledges that the use of ORDO and RGO help organise medical knowledge and can lead to a better understanding of radiology practice and measure the frequency of the diseases within prevalence in the population.

Translating Human Phenotype Ontology into other languages

A study published in the journal of Procedia Computer Science enhances a standardised vocabulary of phenotype abnormalities for rare diseases and aims to translate Human Phenotype Ontology (HPO) into other languages. The authors show that the method they use is cost effective and that time can be saved using an accelerated HPO translation process. However, quality of translation remains an issue not totally solved by automated approaches.

Orphan drug lifecycle: how patients can improve it

A study published in the Orphanet Journal of Rare Diseases explores the existing and possible roles of patients in the orphan drug life cycle, through a scoping review of the literature and a consultative webinar-based validation involving the Patient and Caregiver Liaison Group of a Canadian research network.

Areas for patient engagement that could impact orphan drug development include research outside of clinical trials; clinical trials; patient-reported outcomes measures; patient registries and biorepositories; education; advocacy and awareness; conferences and workshops; patient care and support; patient organisation development; regulatory decision-making; and reimbursement decision-making. However, the study fails to determine which of these opportunities for engagement are the most impacting, as details are not sufficiently captured through this methodological approach.

Genodermatoses: evaluating patients' health related quality of life

A systematic review published by the Orphanet Journal of Rare Diseases gives an analysis of health-related quality of life (HR-QoL) patient-reported outcome measures (PROMs) in genodermatoses. The review underlines the utility in assessing new therapeutic interventions and the impact of the disease upon patients and carers. There is a need to uphold quality standards in HR-QoL measurement by identifying the appropriate measures and increasing awareness towards existing reliable standards.

The authors mention that actual PROMs are valid and reliable but they require additional psychometric analysis to face the limits of content validity and sensitivity. The authors suggest that dermatologists must remain aware of the deficiencies in existing PROMs to support high-quality data in clinical trials.

Health Related Quality of Life among adults with rare disease

A study published in the Orphanet Journal of Rare Diseases shows the limitation of Health-Related Quality of Life (HRQL) research for patients with diverse rare disorders. The study compares validated measures from the general population and people with common chronic diseases.

According to the study, creating a social support network where rare disease patients can exchange and meet may improve patients' quality of life by increasing their knowledge on their disease and making them feel less isolated. At the moment, only a few organisations prioritize HRQL as a social support in their patient care management. The authors’ examination is that HRQL should be included in health agencies and rare disease organisations' funding priorities to help improve HRQL for patients' care. The study states that it is an important challenge for the wellbeing of rare disease patients as they might not be cured during their lifetime, so it remains crucial to also focus on their quality of life as well as new therapies.

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Summary of the edition of 09 February 2018

Editorial

Political news

Scientific news

And also...