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Edition of 31 May 2019

International News

Fundamental shifts and new trends driving rare disease policy

A paper published in EMBO Molecular Medicine outlines the major shifts occurring in the field of rare disease, most notably in research and development. The authors highlight the importance of personalised medicine, the deployment of collaborative strategies the involvement of patients in research as well as the call for more open science and finally the breaking of geographical barriers and the capacity to work across silos. Indeed, the focus on collaborative efforts can pave the way for crucial findings for rare diseases.

EMBO Mol Med. 2019 May;11(5). pii: e10486

Consult the PubMed abstract

ELIXIR and Global Alliance for Genomics and Health Strategic Partnership

ELIXIR and the Global Alliance for Genomics and Health have announced their strategic partnership in order to promote the provision of technical standards and regulatory frameworks to facilitate responsible sharing of genomic data across national borders. The idea behind such cooperation is to enable the creation of a secure infrastructure to store, access, and analyse genomic and sensitive health data from tens of millions of participants across and beyond Europe. Moreover, this federated ecosystem intends to participate in reaching the European Union’s goal of providing transnational access to at least one million genomes by 2022.

European News

NHs provides the opportunity for rare disease patients to benefit from psychological therapies

With the idea of addressing the issue of mental health for patients affected by rare diseases, NHS England has announced that it now requires clinical commissioning groups to offer access to psychological therapies for adults with long term conditions and medically unexplained symptoms. This first step has been warmly welcomed by patient organisations although, as Genetic Alliance suggests, the next step would be to include also caregivers. Carers of people affected by rare diseases often suffer from and have difficulty in coping with the emotional challenges of such an activity.

The situation of rare diseases in the Czech Republic and Europe

A recent paper summarises the current situation and state of the art of the rare disease field. It includes a description of the state of diagnosis and treatment, national policies, healthcare system structure, specialised centres and recommendations issued at both the European and national level. The analysis mainly stems for an investigation of the case of the Czech Republic and also includes potential future developments.

Consult the PubMed abstract

Health Economics

The potential impact of drug shortages on patients

A paper published in the PLOS One journal focuses on the potential threat of medication shortages and its consequence on patients. Medicine shortages are depicted as generating mainly adverse economic, clinical and humanistic outcomes to patients. Increased out-of-pocket costs, rates of drug errors, adverse events, mortality, and complaints are described as particularly prevalent during times of shortage. Nevertheless in some exceptional cases the authors report equivalent or improved patient outcomes. The potentiality of shortage is more likely in the case of rare diseases for which a very limited number of pharmaceutical companies develop medications for a specific disease.

PLoS One. 2019 May 3;14(5):e0215837

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Impact of price negotiation for new drugs in Italy including orphan drugs

A study examines the difference between the price proposal for new drugs submitted by the industry and the final negotiated price in Italy for the period 2013-2017. It highlights the importance of financial-based agreements for reduction in prices. The negotiation was notably effective for orphan drugs which was associated with a price reduction for 25,1% of the orphan medicines studied.

Health Policy. 2019 Apr 13. pii: S0168-8510(19)30079-X

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Special Commission on diagnostic established by the Lancet

Based on the observation of the manifold issues associated with the process of diagnosis, the Lancet decided to set up a special Commission on diagnostics. It aims to produce a diagnostics service delivery package with the possibility for countries to adapt it to their needs in mind. The overarching goal is to advance in terms of international access to diagnostic services following the move towards Universal Health Coverage.

Lancet. 2019 May 18;393(10185):2018-2020.

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Analysis of the cost and approval of gene and cellular therapies

A recent paper seeks to explore the approval of characteristics, discontinuations and cost of all cellular and gene therapy products approved worldwide. The analysis shows that autologous cell therapy products were more likely to be approved than allogenic agents. It also highlights the price difference of gene and cell therapy drugs which are found to be much higher in the European Union and North America than in Asia. Most gene therapies received orphan designation whereas only approximately a quarter of cellular therapies this was granted an orphan designation.

Hum Gene Ther Clin Dev. 2019 Apr 10

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Cost evaluation of Charcot-Marie-Tooth neuropathies patients’ needs

A study conducted recently sought to assess the cost associated with the disease-specific need of patients diagnosed with Charcot-Marie-Tooth neuropathies in Germany. The findings demonstrated that there is a significant economic burden associated with Charcot-Marie Tooth neuropathies. The total annual cost of illness was calculated and was estimated at $22,362 per patient. Furthermore, the study points to the importance of the patient-reported perception of disease severity related to the consumption of resources.

Neurology. 2019 Apr 23;92(17):e2027-e2037.

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Orphan Drug

USA: NORD sets out a number of drug pricing principles

The National Organization for Rare Disorders has devised a series of key drug pricing principles as a means to orientate the organisation’s involvement in the field and ensure the affordability and sustainability of the orphan drug delivery system:

The policy must impact rare disease patients and their families for the organisation to get involved;
The policy must maintain FDA’s standards of safe and effective therapies;
The policy must not raise out-of-pocket costs for rare disease patients;
The policy must not decrease patients’ coverage of necessary therapies prescribed by their provider;
The policy must not place an undue burden on innovation of new therapies;
The policy must be supported by reliable data.

In this way, the National Organization for Rare Disorders seeks to place itself as a reference point to help guide the governmental quest for legislative and regulatory tools ensuring the affordability of medicines.

Orphan drugs reimbursement policies in Central and Eastern European Countries

An article published in Frontiers in Pharmacology, intends to examine orphan drug reimbursement policies and to assess reimbursement decision-making process in the EU-CEE countries. It also seeks to analyse the way the type of approval and disease impacts reimbursement decisions. The findings certified the validity of specific regulations on reimbursement of orphan drugs that in the countries studied (Bulgaria, Croatia, Czech Republic, Estonia, Hungary, Latvia, Lithuania, Poland, Romania and Slovakia) are valid but in Lithuania and Romania no formal HTA process was employed; in case of some countries higher ICER values for orphans are used. It was also noted that the share of reimbursed orphan drugs varied significantly across the countries and was independent from the GDP per capita.

Front. Pharmacol., 2019 May 08

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Post-marketing evidence on orphan drugs data resources accessibility in Italy

An article published in Expert Opinion on Drug Safety, explores the availability of real world data sources and their capacity to generate post-marketing evidence for orphan drugs. Such data is extremely valuable as pre-marketing information is very difficult to collect in the case of rare diseases. The authors specifically analyse the Italian case and find that the data sources are under-used and in dire need of harmonisation, and that their accessibility at all levels (local, regional, national and international) should be improved.

Expert Opin Drug Saf. 2019 May 6.

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Ethical Legal and Social

Parents’ feelings about having a child with Down syndrome

The purpose of a new study was to mirror a precedent publication in 2011 asking parents of children with Down syndrome in the United States the way they felt about having a child with rare diseases. Overall, most responses were positive and a great majority of parents reported that their child had a positive impact on their life. Indeed, 99% indicated that they loved their son or daughter; 98% were proud of them; 78% felt that their outlook on life was more positive because of their child; 12% felt embarrassed by their child; and 7% expressed regret for having a child with Down syndrome.

Am J Med Genet A. 2019 May;179(5):770-781.

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Exome sequencing test disclosure management

A study aimed to investigate the preferences of parents in terms of disclosure of exome sequencing results. Parents tended to require exhaustive information and showed ambivalent feelings about the findings regardless of the results. Such observation questions the value of the information revealed by the tests and parents’ high expectations as well as how to cope with it and accompany the decision-making process in a context of uncertainty.

Eur J Hum Genet. 2019 May;27(5):701-710

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Study Design

Validation of a systemic lupus erythematosus continuous measure

A new study published in Annals Rheumatic Diseases intends to derive and validate a new disease activity measure for systemic lupus erythematosus (SLE), the SLE Disease Activity Score (SLE-DAS), while maintaining high specificity and easiness of use. SLE-DAS has a good construct validity. It showed a higher sensitivity than SLEDAI-2K (SLE Disease Activity Index 2000) to detect a clinically meaningful improvement or worsening, while maintaining similar specificities and it had better results in predicting damage accrual than SLEDAI-2K.

Ann Rheum Dis. 2019 Mar;78(3):365-371

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Proposition of revisions of International Working Group hematological response criteria

In a Blood journal report, researchers argue for a revision to previously published standardised response criteria of the International Working Group (IWG 2000) for uniformly evaluating clinical responses in myelodysplastic syndromes. The changes proposed are the differentiation between “procedures” and “criteria” for hematologic improvement–erythroid assessment as well as a new categorization of transfusion burden subgroups.

Blood. 2019 Mar 7;133(10):1020-1030.

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New scale for rating autoimmune encephalitis’ severity

A new scale for rating the severity of autoimmune encephalitis has been developed and a study aimed to test its validity and reliability. The items chosen for such a scale are : seizure, memory dysfunction, psychiatric symptoms, consciousness, language problems, dyskinesia/dystonia, gait instability and ataxia, brainstem dysfunction, and weakness. The authors of the study claim that it could be applied for clinical practice and fill the gaps and limitations of the scales currently used in Autoimmune Encephalitis.

Ann Neurol. 2019 Mar;85(3):352-358

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Data Management

Strategies for drafting guidelines in rare diseases

With the idea to fill the gaps in terms of clinical practice guidelines for rare diseases, a study analysed strategies for eliciting and synthesizing evidence compatible with the rigorous, internationally accepted standards for guideline development. They include: pre-existing and ad hoc qualitative research, use of systematic observation forms, use of registry data, and thoughtful use of indirect evidence. The dissemination of these methods will benefit not only the rare disease community, but also individuals with common diseases who have rare presentations, suffer rare complications, or require nascent therapies.

BMC Med Res Methodol. 2019 Mar 28;19(1):67

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Bioinformatics

Artificial intelligence and facial recognition for the discovery of new genetic disorders

Within the scope of a study on LEMD2-associated nuclear envelopathy with early progeroid appearance, a team of researchers set out to test the use of machine-learning algorithms on the base of facial photographs for the recognition of established phenotypes. They characterized two individuals with a hitherto unknown genetic disorder caused by the same de novo mutation in LEMD2. Then, the computational analysis of facial features proved a certain phenotypic proximity to other nuclear envelopathies. Moreover, when an algorithm was made able to detect syndromic similarity without supervision, it made the link between both individuals and hence hinted for a common genetic etiology. As a result, the scientists show that a recurrent de novo mutation in LEMD2 causes a nuclear envelopathy whose prognosis in adolescence is relatively good in comparison to that of classical Hutchinson-Gilford progeria syndrome, and consequently point to the fact that artificial intelligence via the analysis of patient images, can be used as a method to enhance the discovery of new genetic disorders.

Am J Hum Genet. 2019 Apr 4;104(4):749-757

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Screening and Prenatal Testing

Delivery and management of prenatal screening results disclosure

Working on non-invasive prenatal screening, a team of researchers has developed an automated system utilizing online education and tele-genetic counseling to aid women's health professionals in effectively delivering genetic testing results. Positive non-invasive prenatal screening results are sent to the ordering provider. The former then has the possibility to ask for a laboratory-based genetic counselor to contact the patient. The patient has access to an online portal with educational resources through which he can view the remaining test results. Moreover, regardless of result type, a request to speak to a genetic counselor can be issued by the patients. The system is said to lay the ground for a large-scale prenatal genetic testing results delivery, education, and counseling congruent with clinical guidelines.

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Quality of Life

Parents’ perspective on having a child with Smith-Magenis syndrome

Intrigued by the claim that ‘the experience of having a rare disorder is falling outside the vast field of knowledge of the professionals’, scientists decided to further examine this observation and conducted a study on parents of patients with Smith-Magenis syndrome. The findings show that the parents experience that their child expose them to severe challenging behaviours and experience misunderstandings with professionals as they seem to ignore certain specific characteristics of Smith-Magenis which they do not consider in their support services.

J Intellect Disabil. 2019 May 2:1744629519847375.

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Psychosomatic care for rare diseases patients

An article published in Der Internist explores the psychological symptoms associated with rare diseases. It examines more specifically patients’ need for psychosomatic care. This might lead them to receive a psychotherapeutic treatment which might not be causally effective and strengthen cases of misdiagnosis. Nevertheless, psychotherapy is needed to treat the mental diseases arising as the symptom of a rare disease and the detection of a psychosomatic disorder should not hastily stop diagnostic efforts. Consequently, the authors suggest to develop more interdisciplinary team care interventions.

Internist (Berl). 2019 May 10.

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Rare disease knowledge and awareness among physicians in Belgium

A study assesses rare disease knowledge and awareness among physicians in Belgium and investigate how it could be improved. The results indicate that all physicians including general practitioners and specialists have specific information needs regarding rare diseases. Hence, the authors recommend to revise academic medical education and to introduce casuistry and red flags in the teaching methods.

Orphanet J Rare Dis. 2019 May 4;14(1):99.

Consult the PubMed abstract

Summary of the edition of 31 May 2019

Editorial
Political news
Scientific news
And also...