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Editorial
- 3 February 2017
- Orphanet News
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Edition of 04 February 2017

International News

One of the many FIRSTs in China: the National Rare Diseases Registry System

China recently launched its first nation-wide patient registry system for rare diseases, the National Rare Diseases Registry System of China (NRDRS), which aims to promote the rare diseases research in China. Lead by Professor Zhang Shuyang from Peking Union Medical College Hospital (PUMCH), this registry incorporates resources from 20 leading medical institutes of China and provides informatics system for more than 50 rare diseases and disease groups. From 2016 to 2020, the target is to finish registry of 50,000 cases and WES/panel sequencing of no less than 10,000 cases. A series of large-scale cohort studies will also be carried out on the basis of the registry system. With the help of precision medicine, clinical phenotypic and biological omics data can be integrated to indicate the mechanism of rare diseases, discover the novel diagnostic and prognostic biomarkers, develop the orphan drugs and other therapeutics, leading to the improvement of clinical outcomes and life quality of the patients.

This platform is open to domestic and international collaboration and will provide support in communication between experts, organization of patient recruitment, data aggregation and analysis and collaboration on the patient advocacy for rare diseases worldwide.

United States passed the 21st Century Cures Act

The United States has passed the 21st Century Cures Act, which President Obama signed on 13 December, 2016.

The Act is divided into three divisions: 21st Century Cures, Helping Families in Mental Health Crisis, and Increasing Choice, Access, and Quality in Health Care for Americans. The act includes a slew of funding in various areas for public health and research initiatives, and significant regulatory changes to the FDA. The National Institutes of Health will receive over USD 4.7 billion from 2017 to 2026 tied to three main projects: Precision Medicine, BRAIN Initiative, and Cancer Moonshot.

According to the Act, changes and additions to the FDA regulations, which will impact trial design, patient access to investigational drugs and the orphan drug programme, is with a view to improve the drug development process. Most significantly, patient experience data on the impact of the disease or therapy on patient’s life and patient treatment preferences with play an important role, thus deviating from FDA’s current regulatory approval standards. However, this aspect has been criticized by some experts, as they believe that this shift towards patient-focused drug development could lead to lowering the bar for regulatory approval, which in turn may lead to unsafe and/or inefficient drugs entering the market, which is not in the interest of the patients. Faster approval of stem cell therapies is also possible as per this Act, which is also a cause of concern for some.

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Orphan drug development in China

According to an article published in Intractable & Rare Diseases Research rare diseases is recognised as a priority in China and is part of the 13^th National Five-Year Plan and on-going reform the China Food and Drug Administration (CFDA).

The authors also stated that “the recent announcement of the first National Committee of Experts on Rare Disease Treatment and Patient Protection is another encouraging sign that policy-makers and legislators have begun to recognize the impact of rare diseases and are starting to consider those diseases as a national healthcare priority.”

The authors also note several innovative biotech companies have sprung up working in the area of rare diseases as well as involvement of many academic institutions and major hospitals in China also played an important role. The authors also make several recommendations for drug companies to successfully utilise resources in China for maximal and efficient development of orphan drugs.

Read the Pubmed abstract

Orphan drug reimbursement decision in Canada

An article published in the Orphanet Journal of Rare Diseases provides a view into how and why negative reimbursement recommendations are made by the Common Drug Review (CDR) for orphan drugs at the Canadian Agency for Drugs and Technologies in Health (CADTH), which is a health technology assessment agency in Canada. The authors noted that more than half of the orphan drugs submitted over the past decade received positive reimbursement recommendation. Analysis of the CADTH database revealed that “negative reimbursement recommendations were made due to a lack of clinical effectiveness, insufficient evidence, multiple reasons, or lack of cost effectiveness/high cost.”

Read the Pubmed abstract

European News

National Contact Points established to address questions about Crossborder healthcare

The Crossborder Healthcare Directive aims to provide all European Union citizens with “equal access to quality healthcare, responding to their specific needs.” This is especially important for rare disease patients as expertise on the particular disease may be scattered across member states. Keeping with this directive all EU member states now have at least one National Contact Point (NCP) in place where people can find out more about their patient rights and options. According to the European Commission website these NCPs (have) their own dedicated, multilingual website, and the European Commission provides support by helping to clarify issues related to both the Directive and to Social Security regulations. The Commission encourage the NCP’s to network, collaborate and ensure utmost transparency so that more patients benefits from this initiative.

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Amryt gets 20 million euro backing from the European Investment Bank Group

Under Horizon 2020, the EU research programme for 2014- 20, the European Commission and the European Investment Bank Group have launched a new generation of financial instruments and advisory services in 2014 to help innovative firms access finance more easily. Recently, the European Investment Bank has entered into a facility agreement of 20 million euros with Amryt Pharma to develop a treatment for Epidermolysis Bullosa, a rare and inherited skin disorder. This agreement provides non-dilutive funding that secures the Company's near and midterm funding needs for its lead product, Episalvan. It also provides the funding required to progress the Company's orphan designated acromegaly drug compound, AP 102, through preclinical development and into the clinic.

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Study on Big Data in Public Health, Telemedicine and Healthcare

Study financed by the European Commission on Big Data in Public Health, Telemedicine and Healthcare is now available online. The study identifies how Big Data can be capitalised to improve the health of individual patients as well as the performance of member states’ health systems. They make 10 recommendations that are underpinned by ethical principles as well as privacy rights which will prospectively help the Commission’s action to develop a value chain the context of the European Digital Market Strategy.

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The European Parliament calls for a revision of the Pediatric Medicines Regulation

Recently a resolution to revise the Pediatric Medicines Regulation (PMR) was passed by the European Parliament. According to the pediatric investigation plan (PIP), the pharmaceutical industry is obligated to test all new medicines in children and adults and can obtain market exclusivity in return. However, they can obtain an exemption or waiver, such as when the company is developing a drug for adult cancer which does not exist in children. This can be of a great disadvantage as the drug could be used to treat other forms of childhood cancer. The resolution asks for a framework in which the pharmaceutical industry cannot sidestep this legal obligation but also get additional incentives to carry out trials in children.

A joint statement International Society of Paediatric Oncology (SIOP) and Childhood Cancer International (CCI) published in The Lancet Oncology, lay down ways to galvanise the international oncology community to achieve sustained improvements in access to medicines for children with cancer, regardless of disease or geography.” They also make recommendations to improve global access to medicines for cancer. These include Availability accessibility, acceptability affordability and quality all of which is explained in detail.

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Ethical Legal Social

Patient-Reported Outcome labeling in the United States

An article published in Value in Health analysed patient reported outcome labeling (PRO) of drugs approved by Food and Drug Association during 2011 to 2015. They also compare the findings with those reported between 2006 and 2010, before FDA released its final guidance for industry on the use of PROs to support labeling claims. PRO is utilised to measure treatment benefit by formally obtaining the view of patients. Patient opinion is often used as primary end-points in clinical trials to assess effectiveness.

The authors found that during the 2011-2015 period, out of the 182 newly approved drugs, a quarter of them had PRO labeling which was mostly based on primary end points and some of them were based on secondary end points. They also report that was an overall decline in PRO labeling 2011 to 2015 compared to 2006 to 2010 but was similar for drugs that traditionally rely on PROs for assessing treatment benefit. According to the authors “it is in the interest of drug manufacturers to provide high quality data to regulators, payers, and prescribers to maximize the value of products and fully inform patients” and both the sponsors and the FDA should work towards better PRO reporting strategy.

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Suicide among survivors of childhood cancer in Norway

A study published in the International Journal of Cancer reports a high frequency of suicide among survivors of childhood, adolescent, or young adult cancer in Norway. The authors found that the suicide rate among patients diagnosed with cancer before the age of 25 years was 0.44%. This was higher than then the overall suicide rate in Norway which they calculated to be 0.28%. According to the authors this data necessitates long-term follow-up, including careful screening and treatment for depression and related physical health problems, among survivors of childhood cancers.

Read the Pubmed abstract

Social media and rare diseases

Social media has touched almost every aspect of our life now. An article published in the Orphanet Journal of Rare Diseases analysis its value for rare disease stakeholders such as scientists, clinicians, patients, carers and as well as other professionals involved. Using the example of an online survey for X-linked ichthyosis, the authors describe the advantages and disadvantages to the usage of social media in the rare disease context. The authors reported advantages of the ease of administration of the survey and due to the anonymity there is a likelihood of elicit truthful responses and an increased patient engagement. However, they also reported many disadvantages due to the lack of objective participation, a possibility of misunderstanding responses as there is a lack of opportunity of clarification, a possibility of malicious responses, lack of proper control groups, response bias and finally the selectiveness of patient groups.

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Orphan Drugs

Off-label use of orphan medicinal products a Belgian study

An article published in the Orphanet Journal of Rare Diseases details off-label use of orphan medicinal products by interviewing physicians and experts in reimbursement in Belgium. They report that participants believe off-label drug use can be safe and well-tolerated in certain instances, however reimbursement could be an issue. The authors recommend that patients/family should be clearly apprised before usage of off-label drugs and warn its usage as a cost-containment measure.

Read the Open Access article

Data Management, Registries

Regulating access to genomic data

In article published in the European Journal of Medical Genetics the authors spoke to data access committees on their views on responsible access to genomic research data. They discuss the “qualification criteria and mechanisms to hold users accountable” for exploring and utilising genome data for research purposes. They note that fragmented or poorly described qualification criteria and illegitimate downstream data sharing are some of the concerns brought about by the committee members. They believe that these concerns have to be addressed and compliance with the procedures should be safeguarded.

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A ‘Triple-A’ approach to accessing genomic data

In a related article published in European Journal of Human Genetics a proposal for registered Access a model for access to data that “cannot be published in open access archives owing to ethical and legal risk.” This model recommends a three step process to judge who can acquire access to this kind of sensitive information. According to the authors this “triple A” approach should involve: “Authentication, Attestation and Authorization”, which is being currently piloted with the Demonstration Projects of the Global Alliance for Genomics and Health.

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The Saudi Genome Progam reveals population specific results

As part of the Saudi Human Genome Program (SHGP), the authors of an article published in Genome Biology report that mutations marked as benign or rare from various public databases have to be reclassified when it comes to the Saudi genome. According to the authors, it is necessary to revisit the genome in inbred populations like the Saudis’, who have a high number of homozygous mutations. The authors state that “SHGP database provide an example of the value that population-specific databases add to the ultimate goal of constructing a complete and highly specific map of the human morbid genome.”

Read the Open Access article

Collaborative efforts of the Global aHUS registry

An article published in the Orphanet Journal of Rare Diseases described the collaborative efforts of the Global atypical haemolytic uraemic syndrome (aHUS) patient registry. The authors describe a process of patient engagement where proposals from the patients help develop research priorities which then in turn helped building the initiation of an ongoing analysis of the data collected in the Registry on patients. According to the authors this “active participation of patients is expected to optimise rare disease manangement and inprove patient outcomes.”

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Economic

Cost-Effectiveness of the quantification of enzymatic activity in leukocytes in comparison to its non-realisation for a rare disease for Mucopolysaccharidosis Type II in Colombia

A study published in Value in Health Regional Issues reported that the quantification of the activity of enzyme I2S in leukocytes as a diagnostic confirmation of MPS II is the dominant technology (most effective and less costly) in comparison with the nonquantification from the point of view of the Colombian health system. The authors used a decision tree model for analysis and found that it was more effective and less costly compared non-quantitative option.

Read the Pubmed abstract

Summary of the edition of 04 February 2017

Editorial
- 3 February 2017
- Orphanet News
Political news
Scientific news
And also...