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Edition of 22 October 2019

International News

Everyday resilience in rare disease networks

An article published in the Annali dell’Istituto superiore di sanita explores the concept of resilience of systems understood as the adaptive and learning response of systems to the daily disturbance of normal routines. The article insists on the human factors building this resilience and applies it to the case of rare diseases networks. The strategies proposed in order to improve the networks’ resilience are: to consciously develop their day-to-day interactions, examine their macroculture of artefacts, espoused values and unarticulated assumptions through which network members coordinate network activities and to focus on the people-centered aspects of networks. This article is based on one of the policy briefs developed during RD-Action.

Ann Ist Super Sanita. 2019 Jul-Sep;55(3):292-295.

Consult the PubMed abstract

India: Analysing the contributions of the Genomics for Understanding Rare Diseases: India Alliance Network

An article published in Human Genomics investigates the contributions of genomic-based solutions for rare diseases. Most notably it focuses on the Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) consortium. The former seeks to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases in India. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in healthcare planning, implementation, and delivery in the specific area of rare genetic diseases.

Hum Genomics. 2019 Sep 25;14(1):52.

Consult the PubMed abstract

United States : Approval of Rituxan

The United States Food and Drug Administration approved Rituxan (rituximab) injection to treat granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) in children 2 years of age and older in combination with glucocorticoids (steroid hormones). Rituxan received orphan drug designation and the FDA granted the approval to Genentech.

European News

New project for telecollaboration between healthcare professionals and patients in Cyprus

The Cyprus Alliance for Rare Disorders has recently undertaken a project called RARE-e-CONNECT, looking to provide tools and opportunities for telecollaboration between Healthcare Professionals and between people with Rare Disorders in Cyprus, e-Learning and continuous information on topics of interest. The project is co-financed by the European Regional Development Fund and the Republic of Cyprus through the Research Promotion Foundation.
This research project has a strong focus on data generation in order to evaluate the ways in which telecollaboration, eLearning and digital health can have a positive impact on satisfying local needs with regards to the diagnosis, management and overall patient care of rare or low prevalence diseases in the country. For the project to produce robust outcomes, wide participation is necessary.
The project aims in particular to :
• enhance existing and create new collaborations for knowledge and best practice-exchange,
• disseminate clinical information and materials
• develop a “telecollaboration” culture.
I
The overarching objective is to develop an eHealth culture, and enhance the country’s participation in ERNs, creating new collaborations for the benefit of the patient community.

The platform will be officially launched on 1st November 2019.

https://rare-e-connect.eu

Consult Rare-e-connect website

Brexit: Matt Hancock’s answer to rare diseases patients' open letter

On 20 September a group of rare disease patients sent an open letter to the UK Health Secretary formulating their concerns regarding the country’s involvement in EU health research networks (ERNs) after Brexit. Matt Hancock, Secretary of State for Health and Social Care responded saying that the UK wishes to continue sharing knowledge with EU partners and declared that preparations were under way to determine how the UK will participate in clinical trials after Brexit. Nonetheless, the representative of the group of patients who wrote the letter, John Wallace, was not pleased with the answer which he considered evasive and lacking many information as regards to ERNs inclusion in Article 50 negotiations, how patients will benefit from the shared information technologies infrastructure and EU funding. The group aims to continue to make requests to the Secretary of Health and Social Care.

Ethical Legal and Social

Rare diseases, challenges in terms of ethical, legal and social issues

Stemming from the assertion that ethical, legal and social issues might be magnified in the field of rare diseases, an article published in the European Journal of Human Genetics sought to discuss the challenges posed in these areas. It highlights the role of funding agencies and partners such as patient advocacy groups, specialists in social sciences and humanities, and clinicians to promote and foster ethical legal and social issues research in rare diseases.

Eur J Hum Genet. 2019 Sep 19.

Consult the PubMed abstract

Efficiency potentials for further integration of shared decision-making facilitate diagnostics and disease management

An article published in BMC Medical Informatics and Decision Making, focuses on the potential to increase healthcare system’s efficiency by involving patient in the form of shared decision-making and most specifically whether efficiency potentials exist and how they can be triggered. The results reveal the report of a distorted trust-building process in the patient-physician relationship, which is not solely impacted by not only dependencies due to the diseases’ severity and chronic course, but an often-reported stigmatisation of patients as stimulants. Moreover, the study confirmed the role of expert patients or lay experts in rare diseases and argues that this field requires also a strengthening of the position of physicians.

BMC Med Inform Decis Mak. 2019 Sep 18;19(1):188.

Consult the PubMed abstract

Educational programmes to improve patients’ well-being

An article published in Annali dell’Istituto superiore di sanita proposes a review investigating the possibility that education plays a key role in building sustainable health system and will improve rare diseases’ patients’ well-being. Indeed, the paper shows that by providing quality education to people with a rare disease, their quality of life can be improved. This article is based on one of the policy briefs developed during RD-Action.

Ann Ist Super Sanita. 2019 Jul-Sep;55(3):265-269.

Consult the PubMed abstract

Orphan Drugs

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation July 2019

The COMP adopted 13 positive opinions recommending medicines for designation as orphan medicinal products to the European Commission, for the testament of:

cystic fibrosis
hepatitis D virus infection
neuroblastoma
Rett syndrome
periodic paralysis
glioma (2 drugs)
nontuberculous mycobacterial lung disease
C3 glomerulopathy
neuronal ceroid lipofuscinosis
neuronal ceroid lipofuscinosis
pancreatic cancer
Bardet-Biedl syndrome

Consult the meeting report

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation September 2019

The COMP adopted 15 positive opinions recommending medicines for designation as orphan medicinal products to the European Commission, for the treatment of:
multiple myeloma

soft tissue sarcoma,
beta-thalassaemia intermedia and major
haematopoietic stem cell transplantation,
soft tissue sarcoma
myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
glioma
Netherton syndrome
graft-versus-host disease
Alexander disease
Stargardt’s disease
Friedreich’s ataxia
growth hormone deficiency
retinopathy of prematurity

The COMP also adopted a positive opinion recommending medicines for designation as orphan medicinal products to the European Commission, for the prevention of haemolytic disease of the foetus and newborn (HDFN).

Consult the meeting report

Meeting highlights from the Committee for Medicinal Products for Human Use 22-25 July 2019

EMA’s human medicines committee (CHMP) recommended five medicines for approval at its July 2019 meeting for:

Vitrakvi (larotrectinib) for solid tumours with a neurotrophic tyrosine receptor kinase (NTRK) gene fusion;
Epidyolex* (cannabidiol) for the treatment of seizures associated with Lennox-Gastaut syndrome or Dravet syndrome;
Inbrija (levodopa) for the treatment of symptoms of ‘off’ periods in Parkinson’s disease;
Trogarzo (ibalizumab), for the treatment of HIV infection;
Deferasirox Mylan (deferasirox), for the treatment of chronic iron overload due to blood transfusions in patients with beta thalassaemia major.

Moreover, the applicant for Evenity (romosozumab) has requested a re-examination of the Committee's negative opinion for this medicine adopted at the June 2019 meeting. Revolade (eltrombopag) and Translarna (ataluren) have also requested re-examination of the Committee's negative opinions for these medicines adopted at the June 2019 meeting.

Meeting highlights from the Committee for Medicinal Products for Human Use September 2019

EMA’s human medicines committee (CHMP) recommended seven medicines for approval at its July 2019 meeting for:

Xospata* (gilteritinib) for the treatment of adult patients who have relapsed or refractory acute myeloid leukaemia (AML) with a FLT3 mutation;
Qtrilmet (metformin hydrochloride / saxagliptin / dapagliflozin) for the treatment of type 2 diabetes mellitus;
senstend (lidocaine / prilocaine) for the treatment of premature ejaculation in adult men

Data Management

FAIRsharing and the Transparency and Openness Promotion Guidelines initiative to improve research transparency

FAIRsharing and the Transparency and Openness Promotion Guidelines (TOP) are two community efforts that aim to increase the number of journal and research funder policies that effectively incentivise data sharing, among other goals. Based at the University of Oxford in the UK, FAIRsharing is a curated, informative and educational resource on data and metadata standards, repositories and data policies, and the relationships between them. Together they aim to advance and enable open and FAIR research. To do so, they are carrying out a joint project to increase both the number and clarity of journal and research funder policies that effectively incentivize data sharing. The TOP Guidelines consist of eight specific standards that funders and publishers of scientific research can use to implement better research practices. And the FAIRsharing registry helps to bring clarity and discoverability to existing data policies. Hence, these two organizations can classify the recommendations these policies contain to improve their definition, allow comparison between them, and ultimately improve the clarity of guidance to the research community.

Ireland: From marketing authorisation to completion of health technology assessment appraisal

A paper published in PharmacoEconomics quantified each stage of the timeline for new drugs in Ireland from marketing authorisation to completion of health technology assessment appraisal and explore the association between submission features and the time to appraise rapid review and health technology assessments by the National Centre for Pharmacoeconomics. Time to submission of rapid review varied widely between submissions, with only a few companies choosing to submit prior to an marketing authorisation being granted. The study found that the average rapid review appraisal time was in line with the four-week timeframe set out in a 2016 agreement and that the time to appraise a health technology assessment was longer than the ninety-day timeframe.

Pharmacoecon Open. 2019 Sep 17

Consult the PubMed abstract

Set of policies and actions to advance the rare disease field in Europe

Within the framework of the Joint Action for Rare Diseases: Project Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases - RD-ACTION, an article was drafted and published in Annali dell’Istituto superiore di sanita, outlining some policies and actions aimed at tackling rare diseases in Europe. As a whole, the members of the project propose: the development and implementation of European Reference Networks; the integration of high-quality patient registries, biobanks, and bioinformatics support; the implementation of National Plans on RD in EU Member States by sharing experiences, capacity building and linking national efforts through a common strategy at a European level; actions driven by the recommendations for primary prevention of congenital anomalies (the main RD group with multifactorial aetiology); policy provisions to foster research and development of orphan drugs.

Ann Ist Super Sanita. 2019 Jul-Sep;55(3):296-304.

Consult the PubMed abstract

Implementation of integrated care for rare disease patients

An article written based on the work of the Project Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases - RD-ACTION reviews the main literature available on the integration of health services and links it to rare diseases. It identifies several system levers for the effective design and implementation of integrated care frameworks, namely: political support and commitment, governance, stakeholder engagement, organisational change, leadership, collaboration and trust, workforce education and training, patient empowerment, financing and incentives, information and communications technology infrastructure and solutions, monitoring and evaluation system. This article is based on one of the policy briefs developed during RD-Action.

Ann Ist Super Sanita. 2019 Jul-Sep;55(3):276-282.

Consult the PubMed abstract

Summary of the edition of 22 October 2019

Editorial
Political news
Scientific news
And also...