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Edition of 30 April 2019

International News

Australia: new funding scheme with a focus on rare diseases

In a recent speech Minister Greg Hunt, Health Minister, claimed that access to medicines was one of his priorities. Indeed, a 10-year investment plan of nearly $5 billion has been announced for funding of the Medical Research Future Fund, a government fund to boost the growth of Australia health and medical research. The plan was divided into four key themes : patients, researchers, translation and missions. $614 million will be allocated to clinical trials for rare cancers, rare diseases and unmet needs.

Rare Voices Australia, Australia’s main patient organisation championed the plan and had encouraged funding for Data Infrastructure, most notably for registries, biobanks and data linkage.

A comparison of rare disease policies and frameworks in 23 countries

A thorough examination of reports on national plans, policies and legislation related to rare diseases stemming from 2000 to 2017 was conducted for a review study. 23 countries were compared and the conclusions announced by the article highlighted the variation in rare disease definitions and the fact that as a whole, multinational programs supported by similar legislation tend to have more impact on rare disease issues than programs sustained by a single country.

Intractable Rare Dis Res. 2018 Nov;7(4):213-222

Consult the PubMed abstract

China’s renewed attention on rare diseases and the special case of Shanghai as an example for the rest of the country

An article published in Intractable and Rare Diseases Research outlines the advances incurred by the new National Network to Collaborate on Diagnosis and Treatment of Rare Diseases. It includes 324 hospitals and aims to set up a practical mechanism for an effective alliance by different tiers of the healthcare system. It has decided to focus on six priorities:

to establish a mechanism for collaboration;
to implement standards of care;
to enhance quality control;
to ensure the supply of drugs;
to set up a registry;
to enhance clinical research.

The more general case of Shanghai and its rare disease policy initiatives is presented in another article. It describes the recent developments such as the establishment of the Shanghai Rare Diseases Diagnosis and Treatment Center, Shanghai Children's Rare Diseases Diagnosis and Treatment Center, and Shanghai Rare Diseases Specialist Clinic in February 2018, and how they improved the accessibility of medical care and services for rare diseases patients. The authors suggest that Shanghai can be taken as a model for the rest of China.

These initiatives are in synch with the international trend of raised awareness, action and harmonisation in the field of rare diseases.

Intractable Rare Dis Res. 2018 Nov;7(4):291-294. Intractable Rare Dis Res. 2019 Feb;8(1):78-79.

Consult the PubMed abstract
Consult the PubMed abstract

European News

Setting international standards for cross-border exchange of patients’ health data

On 19 March, the CEN International Patient Summary project organised its last conference. It presented its work on integrating the European guidelines on Patient Summary into international standards. The aim of the initiative was to enable the use of the Patient Summary not only in cross-border care, but also in national and local exchanges, to allow patients and doctors to have access to the patients’ health data wherever the treatment takes place. Indeed, the European Union is playing a key role in shaping eHealth developments throughout Europe and this advancement in the field of international cross-border healthcare, interoperability and standardisation could bring enormous benefits to the area of rare diseases.

Health Economics

Newborn screening for severe combined immunodeficiency

A study published in Clinical Immunology aimed at assessing the feasibility of nationwide newborn screening for severe combined immunodeficiency (SCID) in France as well as its economic and clinical utility. The results of the study were positive and this type of screening was found feasible and effective. An economic evaluation was also conducted. Nevertheless, it was not possible to have a clear idea of the difference in cost between screened and control groups.

Clin Immunol. 2019 Apr 1;202:33-39.

Consult the PubMed abstract

Accessibility of care and drugs in Bosnia and Herzegovina

An evaluation of the situation of rare diseases and the accessibility of orphan drugs in Bosnia and Herzegovina has been published. The authors of the study conclude that although some diagnostic and counseling practices for certain rare diseases exist and that some patient organisations have been established, much is still lacking as regards to the availability of orphan drugs, diagnostics and care. Moreover, financial limitations make it difficult for the country to advance in this direction and the authors suggest to put in place novel methods of evaluation as a means to drive decision-making and policy in this field.

Mater Sociomed. 2018 Dec;30(4):297-303

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Orphan drugs

Paediatric drug development: a new trend and the path towards international collaboration

A recent paper reviews the whole process of drug development for children and compares the situation in Canada, the European Union, Japan, China and the United States. They find a new international general trend towards paediatric drug development and show that more and more research is carried out in this field. Nonetheless, they also note the regulatory differences between the set of countries studied. It seems that both statutory requirements as well as financial incentives have proved useful in shaping this trend and that agencies tend to seek for harmonisation and international collaboration regarding paediatric drug regulation.

Paediatr Anaesth. 2019 Mar 28.

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Hurdles for the development of paediatric orphan medicines

An open access book chapter presents an overview on paediatric drug discovery and development with a special focus on the challenges of this path. The authors point to the existing gap in the availability of orphan medicines for children. Indeed, inherent differences linked to the paediatric population’s characteristics such as physiology, the limited number of patients concerned and the need to divide the cohort into age groups are big hurdles for research. Other reasons which disincentivise companies in investigating these cases include ethical considerations, the small market size they represent and high cost for pharmaceutical companies. The authors then conclude that in order for children to benefit from appropriate treatment, more efforts are needed in terms of capital, human resources, and technological expertise to speed up both the preclinical and clinical drug development in children.

A need to improve the understanding of the care of rare disease patients in primary care

A study sought out to examine the prevalence of rare diseases in visits of primary care physicians and explore the characteristics of these visits. It highlights the fact that visits for rare diseases are uncommon in primary care practice and hence a better understanding of the overall management of patients with rare diseases managed solely outside of primary care would help to improve the care for these patients.

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Ethical Legal and Social

Use of unsolicited information letters for hereditary conditions by healthcare services

It seems logical that the dissemination of information on a genetically increased risk is carried out on a family basis. Following this observation, a team of researchers analysed the reactions and attitudes prompted by the receipt by family members with genetic predisposition to hereditary colorectal cancer of unsolicited letters with information on the disease as well as an invitation to genetic counseling. Their results suggest that this method is both feasible, acceptable and for most people desired as a means to disseminate efficiently information to families predisposed to hereditary colorectal cancer.

Fam Cancer. 2019 Jan;18(1):43-51

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Study Design

Assessing the reliability and validity of two questionnaires evaluating fatigue in RYR1 related disorders

A study published in the Journal of Neuromuscular Diseases, assessed the reliability and validity of two self-report questionnaires: the multidimensional fatigue inventory (MFI-20) and adult/pediatric functional assessment of chronic illness-fatigue (FACIT-F/Peds-FACIT-F), as potential fatigue measures in RYR1-RD affected individuals. The results indicated that both questionnaires were reliable and valid means of evaluating the fatigue associated with RYR1 related disorders.

J Neuromuscul Dis. 2019;6(1):133-141.

Consult the PubMed abstract

Data Management

Analysis of Chinese patients with late onset Pompe disease in the global Pompe registry

An analysis of the Chinese patients with late onset Pompe disease in the global Pompe registry published in the Orphanet Journal of Rare Diseases demonstrated that Chinese patients appear to have a lower age at symptom onset and diagnosis, lower lung function, and the majority had never received enzyme replacement therapy.

Orphanet J Rare Dis. 2019 Apr 3;14(1):78.

Consult the PubMed abstract

Screening and Prenatal testing

Importance of clinical guidelines for genetic counseling practice following a NIPT positive results

A paper published in Journal of Genetic Counseling intended to describe the genetic counseling practice in the United States after a positive result of a sex chromosome abnormality revealed via a non-invasive prenatal testing. The study shows a lack of consistency in the practice of paediatric providers, especially considering offering postnatal evaluation and maternal karyotype. As a result, many undiagnosed newborns might miss a striking opportunity to benefit from growth hormone therapy, early intervention, and/or targeted surveillance may be missed. The authors thus recommend to produce clinical guidelines to help professionals and improve care for patients with non-invasive prenatal testing results positive for sex chromosome abnormality.

J Genet Couns. 2019 Apr 4.

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Quality of life

Quality indicators for paediatric medulloblastoma

Stemming from the observation of a lack of internationally accepted quality indicators for paediatric with medulloblastoma a real-world research study was conducted in order to define and assess diagnostic, therapeutic, survival, and time quality indicators. A set of 34 quality indicators was developed and some of the findings included a lack of central pathology review, delay in the incorporation of novel molecular markers, and absence of a neurocognitive and quality of life evaluation program. The paper aims to improve clinical audits and quality of care of children with medulloblastoma.

Clin Transl Oncol. 2019 Apr 1.

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Travel burden of Merkel cell carcinoma

An analysis of the travel burden for cancer patients with Merkel cell carcinoma. It was found that patients who travelled most were generally younger, at an advanced stage of cancer and it was also pointed out that it was associated with shorter follow-up in the cancer registry and fewer in-clinic visits. The last results suggest that travel burden might have a great impact on patient care for individuals affected by Merkel cell carcinoma.

Cancer Med. 2019 Apr 5

Consult the PubMed abstract

Summary of the edition of 30 April 2019

Editorial
- Editorial
- Orphanet News
Scientific news
Political news
And also...