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Edition of 18 September 2019

International News

Japan: Elaboration of a data integration platform for rare disease research

Stemming from the need to collect and integrate data on rare disease, the Japan Agency for Medical Research and Development is conducting a project to establish a standard data integration platform for rare disease research. A recent article published in Studies in Health Technology and Informatics presents the background, purpose, process, results, current status, and future plans of the project. Overall, the project aims to develop an information infrastructure and a supporting organisation in order to create rare disease registries and and enhance the sharing of patient data.

Stud Health Technol Inform. 2019 Aug 21;264:1080-1083.

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China: Analysis of the social health care system as regards rare disease patients' needs

An article published in Bioscience Trends analysed the Chinese social security system for rare diseases. They start by acknowledging the great recent advances in this area as China initiated, in 2018, a special security project for rare diseases from the national strategic level. Nonetheless, they highlight the recurrent difficulty in diagnosis and misclassifications. As a whole they emphasise the need for a more comprehensive and complete healthcare and social care system for patients affected by rare diseases. Finally, they also advise the implementation of regional plans before scaling them up to the national level.

Biosci Trends. 2019 Aug 20.

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Canada: Possibilities of germline genome editing for rare diseases

A study on genome editing was conducted in reaction to the gap in the literature concerning the application of genome editing to rare diseases. Its goal is to foment broader societal dialogue on this topic and explore how CRISPR may be beneficial to the rare disease community. The article particularly drafts the legal context in Canada before evaluating the possibilities for germline genome editing in relation to rare diseases in spite of the current illegal status of this practice in Canada. As a whole, the authors advocate to boost public engagement by directly engaging with the community.

J Community Genet. 2019 Aug 16.

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European News

Northern Ireland: Communication needs in Northern Irish healthcare system

An article published in Frontiers in Public Health analyses the results of a survey conducted in 2017 and explores the information and communication needs for individuals with rare diseases within Northern Ireland’s healthcare system. Four main themes arose from the survey: sources of information; medical care; rare disease community; and public awareness. The authors recommend the establishment of a Northern Ireland reference network or centre of excellence for rare diseases as a means to facilitate relaying information. They also argue for sustainable funding, resources for rare disease charities, more cross-border cooperation; for the creation of local rare disease online information hubs, registry, coordinator; and for improving public awareness.

Front. Public Health, 21 August 2019

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Health Economics

Assessment of cost and efficacy of prenatal recall versus reflex DNA screening for trisomy 21, 18 and 13

A study set out to evaluate and compare the cost and efficacy of prenatal recall versus reflex DNA screening for trisomy 21, 18 and 13. It was found that reflex DNA screening is less expensive, more cost-effective, and safer than recall screening.

PLoS One. 2019 Jul 25;14(7):e0220053.

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Orphan Drugs

Marketing of orphan drugs in China

An article published in Journal of Pharmacokinetics and Pharmacodynamics focused on the marketing of orphan drugs in China. By looking at the example of drugs for mucopolysaccharidosis, the researchers outline a set of recommendations. They push for the establishment of a special department for the evaluation of drugs for rare diseases, for more research on and management of drugs in the post-approval phase, for more international cooperation and for an improvement in incentive policy.

J Pharmacokinet Pharmacodyn. 2019 Jul 23

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Clinical pharmacology and rare disease research

A recent review published in Journal of Pharmacokinetics Pharmacodynamics introduces the role clinical pharmacology can play in the field of rare disease research. It particularly points out clinical pharmacology’s main contributions in orphan drug development. For instance, it stresses the utility of dose finding, optimising clinical trial design, indication expansion, and population extrapolation. It also gives some examples of such applications.

J Pharmacokinet Pharmacodyn. 2019 Jul 23

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Opinion on United States' recent decisions regarding the paediatric orphan drug market

An article published in the California West Law Review criticises the US Administration’s recent policies regarding the orphan drug market. The author argues that the reduction in tax incentives for orphan drug manufacturers and the recommendation to eliminate research exemptions available to pediatric populations under the Pediatric Research Equity Act is detrimental to pediatric orphan drug research and development. Indeed, the paper points to the fact that such decisions might increase pharmaceutical companies' incentives to minimise their engagement in the paediatric orphan
drug market and move towards more profitable areas.

Cal West Law Review :55 :(2), 4

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Demonstrating not ineffectiveness, a two-stage approach for orphan drug review and approval

As a means to address the issue of small population subsets in rare disease research and clinical trials, some researchers propose to initiate a two stage approach. The first step consists in demonstrating the not ineffectiveness of the drug and then rule out or control the probability of inconclusiveness in order to demonstrate effectiveness.

J Biopharm Stat. 2019 Aug 27:1-11.

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Ethical Legal and Social

Impact of caring for a patient with a lysosomal storage disease

A study recently published in the Journal of Patient Reported Outcomes set out to develop and validate an instrument to measure the impact on caregivers of caring for children with three lysosomal storage diseases: metachromatic leukodystrophy, neuronopathic mucopolysaccharidosis type II and mucopolysaccharidosis type IIIA. The study found that caregivers taking care of patients affected by a lysosomal storage disease experience negative impacts in terms of social functioning, emotional/psychological functioning, physical functioning, daily activities, and finances/work productivity.

J Patient Rep Outcomes. 2019 Jul 23;3(1):44.

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Parental burden in paediatric haemophilia

A team of scientists collaborated in order to provide a description of the perceived burden on parents of children with severe or moderate haemophilia and the sociodemographic impacts as well as the child's medical condition on such burden. The burden was more important for cases in which the children had past or present inhibitors, were younger, a family member administered the clotting factor and were overweight. The authors, hence, recommend additional psychosocial support directed towards parents with children in the former cases and for healthcare professionals to concentrate some of their efforts in treating obesity and refer children to relevant specialists.

J Clin Nurs. 2019 Jul 21

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Patient self-referral for diagnosis

A paper explored the possibility of self-referral from the internet for genetic diagnosis of several rare inherited kidney diseases. It concludes that via the internet undiagnosed families were able to directly establish contact with an academic center specialising in inherited kidney disease to achieve a diagnosis without waiting on their physician. This was the case for 25% of families diagnosed with autosomal dominant tubulointerstitial kidney disease. Consequently, the authors add that improving direct access to specialised centres should be considered.

Genet Med. 2019 Jul 24.

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Industry partnerships investigated: the case of the Urea Cycle Disorders Consortium

A paper investigates the Urea Cycle Disorders Consortium set up by the United States National Institutes of Health, a partnership among clinicians, patients, and the institutes. Its main objective is to increase the development of therapeutics that improve patient outcomes for persons affected with a Urea Cycle Disorder. The paper presents the partnership as well as the foundations for building such collaborations. It upholds that developing an appropriate framework in which the partnership is able to flourish can pave the way to great advancements in therapeutic interventions for patients.

Genet Med. 2019 Jul 24.

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Issue of parents being silenced when caring for a child with a neurodevelopmental disease

An article published in Health Expectations, plunges into the difficult experience of parents caring for children with neurodevelopmental disease and being silenced. The semi-structured interviews conducted revealed that “parents experience a sense of disconnect and silencing as little is known or understood by health‐care providers about the experience of caring for children at home; they make strong efforts to be heard and acquire services within health and social systems as fighters, saviours and navigators; and they
sacrifice themselves to the caregiving role and become therapists and caregivers to
their medically fragile children at the cost of losing themselves as parents”. Therefore, the authors push for an increase in understanding parents’ experiences and highlight the potential beneficial effects on policies and support services such acknowledgement might entail.

Health Expect. 2019 Aug 29.

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Screening and Prenatal Diagnosis

Israeli parents of children with Down Syndrome and non-invasive prenatal screening

A study published in the Journal of Genetic Counseling, explores the attitudes of Israeli parents of children with Down syndrome regarding non-invasive prenatal screening and the scope of prenatal testing. It shows that parents in this situation tend to criticise the imbalanced information given on Down syndrome which is felt as disseminating a discriminating message. Furthermore, the authors provide some implications concerning parental autonomy.

J Genet Couns. 2019 Aug 30.

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Bioinformatics and Biotechnology

New algorithm to assist physicians with the differential diagnosis of central ocular motor rare diseases

A study published in the Orphanet Journal of Rare Diseases aimed to design an algorithm which can assist physicians as a “digital expert” with the differential diagnosis of central ocular motor rare diseases. The articles concludes that associated with knowledge of the functional anatomy of the ocular motor system and possible underlying diseases, the algorithm is a useful tool to assist clinical work.

Orphanet J Rare Dis. 2019 Aug 8;14(1):193.

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Human-on-a-chip technology for orphan drug development

Stemming from the lack of representative disease models, and the difficulty of research for orphan drugs, an article presents the benefits of human-on-a-chip technology. It allows for modelling human tissues in interconnected in vitro microfluidic devices. Consequently, it may considerably lower the cost of preclinical studies and increase the rate of drug approval by introducing human phenotypic models early in the drug discovery process.

Drug Discov Today. 2019 Aug 11. pii: S1359-6446(19)30311-3.

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Quality of Life

Quality of life in systemic sclerosis before and after autologous haematopoietic stem cell transplant

A study published in the Journal of Community Genetics aimed to assess quality of life before and after autologous haematopoietic stem cell transplantation in the case of systemic sclerosis.Overall, the results indicated a significant and durable improvement in terms of physical health-related quality of life.

J Community Genet. 2019 Aug 16

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Summary of the edition of 18 September 2019

Editorial
Political news
Scientific news
And also...