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Edition of 16 March 2018

European News

#RAREvolution one step closer to rare diseases

An article published in the journal of Molecular Syndromology highlights the #RAREvolution programme launched by the BLACKSWAN Foundation for rare disease research. The programme follows the work developed by the RE(ACT) Initiative, that aims to integrate its international action by developing more awareness around rare diseases. The #RAREvolution programme wants to improve the understanding of rare diseases among healthcare professionals, patients, health authorities, and academics. The article mentions the important role of the RE(ACT) Initiative in the #RAREvolution programme, which is to improve coordination between research laboratories and between international researchers. The author highlights the action of the BLACKSWAN Foundation in building a community of researchers focusing on sharing recent results from rare disease research and the need for a stronger political leverage to support their cause. Later this month RE(ACT) Congress organised by the BLACKSWAN Foundation, and E-RARE the ERA-Net for rare diseases took place in Bologna (March 7-10). The Congress goal was to address the challenges faced by the rare disease research, and discuss how international cooperation can move the research forward in this field of constant evolution.

Making patient care more effective by breaking down barriers

An editorial published in Clinical Pharmacology and Therapeutics highlights the main barriers to drug development, as discussed during the 2018 ASCPT Annual Meeting, and focusing on effective patient care. Drug development is a challenging process and many difficult decisions have to be addressed through the various stages. The authors mention drug development main barriers, to focusing on the difficulty to study populations, the challenge to identify safety issues and how to apply big data to back up clinical care. The results found from several studies highlight the necessity to identify safety signals at an early stage in the drug development process.

The authors mention that new methods to identify these safety signals can help avoid the halt or slowing down of the development of a drug and decrease financial and patient resources loss. However, biomarkers are being developed to target at which point the drug becomes a risk for the patient safety and how to interpret the results in the long run. It is already being developed for drug-induced kidney injury and proarrhythmic risk.

The authors mention that the use and analyse of larger datasets are undeniably beneficial for clinical care, even if this raises more complex questions in patient care and the ethics around data sharing. Patient outcomes show a positive impact on patients and it has been proven that a well-collected dataset using phenotype, and genomic discovery can improve the identification of new drug targets, reevaluate the possible toxicity of a drug and potentially repurpose the use of an existing drug to provide more effective patient care.

Ethical debates: newborn screening in the private or public domain?

A study published in the Journal of Bioethics discusses issues and viewpoints in the literature about voluntary and mandatory newborn screening (NBS) program. According to the literature, soft impacts are assigned to the private domain when hard impacts are considered worthy of policy concern and delegated to the public domain. The authors highlight the added burden for parents regarding the difficult task of determining what is best for their children’s health. The study shows that not enough support is provided to parents and that NBS does not give enough evidence to help them make an informed decision in most cases. The authors encourage notions of solidarity, care, and trust as part of the expansion of the NBS programmes to help respect the distinction between public and private domain as the responsibility of the decision remains in the hands of parents.

FDA's scientific judgment at stake for paediatric exclusivity

An article published in the JAMA journal highlights a decision made by the US Food and Drug Administration (FDA) to deny paediatric exclusivity to Amgen for Sensipar (cinacalcet). The authors mention the reasons that pushed the FDA to refuse the market extension: insufficient data did not enable them to state cinacalcet could be safely used in children. According to the FDA, Amgen did not comply with the terms agreed In the written request.

The report concluded that it is necessary for the scientific community to be able to rely on the FDA and their role ensuring regulatory authority and scientific judgement based on strong clinical evidence especially as concerns of the paediatric exclusivity program.

Should ultra-rare diseases drugs be treated separately: an HTA perspective?

An article published in the Orphanet Journal of Rare Diseases assessed the difference between ultra-rare and more prevalent rare disease drugs from a health technology assessment (HTA) viewpoint. They compared submissions made to the Canadian Agency for Drugs and Technologies in Health and found that ultra-rare diseases drugs were more likely 'to be biologics, to have been studied in uncontrolled clinical trials, to have a higher annual treatment cost per patient, to have less robust evidence'. They were also 'less likely to include data from at least one double-blinded randomized controlled trial and have smaller patient cohorts in clinical trials'. Finally, the authors found that ultra-rare diseases drugs were less likely to receive a positive reimbursement recommendation. Thus the authors believe that ultra-rare diseases drugs could be viewed as a separate subgroup from an HTA perspective in order to reduce the negative reimbursement recommendation.

An exome analysis framework aiming to shorten the diagnostic odyssey

A study published in the Journal of Translational Genetics and Genomics describes a methodology - Cincinnati Clinical Exome Pipeline Analysis Suite (CCEPAS) that can facilitate the identification of likely “causative gene variants to establish a clinical diagnosis”. According to the authors, this is a four-level framework namely phenotyping, genetic, gene/variant (filtering-in and ranking) and knowledge. They applied the phenotype-genotype association tool, Pheno2Gene with the variant analysis algorithm – VarEval, which is then applied to variants for clinical interpretation. Using this approach the authors were able to find the genetic cause thus, “ending the diagnostic odyssey in more than 30% of (their) clinical exome cases.”

Improving educational context for children with rare diseases

A review published in the Nursing and Care Open Access Journal reflects on a research project developed in the Balearic Islands which focus on finding educational solutions to improve children affected by a rare disease quality of life. The authors highlight the main issues that need to be addressed to facilitate children inclusion in school. Their results show that the coordination between teachers, families and health services is not providing effective care and requires more suitable psycho-pedagogical guidance for children. The review shows that specific training for teachers and health services is needed to improve their pedagogical and psychological interventions when interacting with children. The challenge is to change the communication between them so they can improve rare disease children educational context and be more at ease when managing an emergency related to children’s illness. Training is recommended for paediatricians to provide them with better communicative skills when interacting with sick children. The project research aim is to design a better educational system in which rare disease children will see their quality of life upgraded.

A quality improvement program for adolescents with cystic fibrosis at 2 centers in France

An article published in the Orphanet Journal of Rare Diseases details therapeutic patient education (TPE) programmes for cystic fibrosis developed in two centres in France (Paris and Nantes). These 2 centres participated in the pilot phase of the quality improvement program (QIP) named the Hospital Program to Improve Outcomes and Expertise in Cystic Fibrosis (PHARE-M) since 2011. The overall objective was to improve the health of the patients and “prepare them for their optimal transition to an adult Cystic Fibrosis Center”. According to the authors, the “link between TPE and QIP was strong at our two centres enhancing patient-centered care and targeting an optimal transition to an adult program”. The authors conclude that the patient-centered process and the involvement of psychologists and social workers maximized the effectiveness of the program.

VASCERN on a roll!

The European Reference Network (ERN), VASCERN has recently released its first deliverables report to the European Commission and under the Specific Grant Agreement (SGA) in the framework of the EU 3rd Health Programme for its first year of activities.

VASCERN has also released its first three videos called ‘Pills of Knowledge’: two on Hereditary Haemorrhagic Telangiectasia (HHT) and another on Marfan syndrome.

VASCERN highlights the creation of the 101 Genomes Foundation focusing on Marfan syndrome. One of the founders is Chair of the VASCERN ethics working group. The foundation aims to provide international cooperation by bringing researchers together to share data by making available to scientist a cross-database containing the genomic and phenotypic data of patients with rare diseases to achieve their goals in finding a curable treatment.

VASCERN news

Summary of the edition of 16 March 2018

Editorial
Political news
Scientific news
And also...

European News

International News

Orphan Drugs

Screening/Testing

Social Science

European Reference Networks

Summary of the edition of 16 March 2018

Editorial

Political news

Scientific news

And also...

Edition of 16 March 2018

European News

#RAREvolution one step closer to rare diseases

International News

Making patient care more effective by breaking down barriers

Ethical Legal Social

Ethical debates: newborn screening in the private or public domain?

Orphan Drugs

FDA's scientific judgment at stake for paediatric exclusivity

Should ultra-rare diseases drugs be treated separately: an HTA perspective?

Screening/Testing

An exome analysis framework aiming to shorten the diagnostic odyssey

Social Science

Improving educational context for children with rare diseases

A quality improvement program for adolescents with cystic fibrosis at 2 centers in France

European Reference Networks

VASCERN on a roll!

Summary of the edition of 16 March 2018

Editorial

Political news

Scientific news

And also...