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Edition of 20 March 2019

International News

Student Organisation’s first awareness month

RARE GW, a Washington based US student organization calling for rare diseases research, advocacy and education, hosted the first-ever Rare Disease Awareness Month this February. Three educational events were organised in order to equip students with the resources to understand health care policies about rare diseases. The first event was entitled Patient Perspectives and focused on the challenges students with rare diseases faced in applying to universities; the second one, The Bleeding Heart, was the opportunity to produce get-well cards for patients at the Children’s National Institute of Health hospital and watch organ donation videos; and finally the third one Policy and Pizza planned to host a discussion about health care policy with a representative from the National Organization for Rare Disorders and former congressional staffer Steve Silvestri of the EveryLife Foundation for Rare Diseases.

New National Centre for Rare Disease in Qatar with Heidelberg University Hospital

Hamad Medical Corporation, in collaboration with Heidelberg University Hospital, will establish National Center for Rare Disease in Qatar. Dr Al Kuwari, The Minister of Public Health, signed a partnership agreement with Professor Dr Annette Grüters-Kieslich, Chief Medical Director and Chairperson of the Board of Heidelberg University Hospital to establish a National Center for Rare Disease in Qatar.

European News

New European Platform to collect rare disease patient data launched

On Rare Disease Day the European Commission decided to launch a novel online knowledge-sharing platform with the objective to improve diagnosis and treatment of rare diseases. The goal of the European Platform on Rare Diseases Registration is to collect patient data scattered all over Europe. As Vytenis Andriukaitis, Commissioner for Health and Food Safety, stated in a European Commission press release the platform should tackle issues arising from the fragmentation of data and enhance the interoperability of registries.

The Platform includes:

a European Directory of Registries offering an overview of each participating registry;
a Central Metadata Repository showing all types of variables used by the registries;
a data protection tool ensuring patient data is protected with the use of a pseudonym and cannot be linked to the patient’s identity.

This tool will provide critical knowledge for a specific disease, enhance research efforts and assist patients, healthcare providers and policy-makers.

Report from the first Workshop on Ancient Rare Diseases

The first Workshop on Ancient Rare Diseases, has taken place in Berlin from 26 February to 1 March. This was the occasion for stakeholders to exchange innovative ideas on rare diseases in antiquity. The resulting multidisciplinary debate, along with the presentation of cutting edge technologies, has opened a fresh look on how the life of people affected by rare diseases has changed through space and time. This meeting led to an unprecedented overview on the history of rare diseases in Europe, Asia, Africa and the Americas, covering ten thousand years of human history. Finally, all participants agreed on a clear message, namely that a better knowledge of the past of rare diseases can help those who are today affected by them to re-discover their history, build their identity, make group and be heard.

A new local framework for Huntington disease was launched in the Lothian region

A novel framework plans to help families affected by Huntington disease receive good quality care, information and support regardless of where they live. It was designed by a multidisciplinary expert group led by the Scottish Huntington’s Association and funded by the Scottish Government.

UK strategy for Rare diseases implementation plan for England update

A 2019 update on the UK strategy for Rare Diseases Implementation Plan for England was released on 27 February. This update concerns mainly five main areas:
•empowering those affected by rare diseases
•identifying and preventing rare diseases
•diagnosis and early intervention
•coordination of care
•the role of research

It also describes the actions that Department of Health and Social Care and partner organisations are set to carry out in 2019 as a means to implement the commitments of the strategy.

New Oxford-Harrington Rare Disease Centre for therapy development

The University of Oxford and Harrington Discovery Institute at University Hospitals have established a new partnership to boost therapies for rare diseases. The new Oxford-Harrington Rare Disease Centre’s mission is to stimulate the development of treatments for the approximately 6000 rare diseases by bringing together the capabilities, resources and expertise of both institutions. It will set the research and innovation agenda for scientific breakthroughs with a maximum clinical impact. The University of Oxford has more than 250 Principal Investigator scientists working on over 350 rare diseases. The Oxford Rare Disease Initiative, established in 2012, is a collaboration between the University of Oxford and the Oxford University Hospitals Trust, which provides the opportunity to combine pre-clinical and clinical expertise in areas such as neurology, inflammation and immunology, hematology, cardiovascular and metabolic diseases and has created an extensive rare disease network. They also plan to work with patient organisations and try to produce the most impactful work possible to improve patients’ lives.

Bupa Malta awards

The First Bupa Malta awards organised by Global Capital Health Insurance, were held last month, celebrating the work of individuals who have contributed to important advances in health. The awardees were Prof. Alexander Felice, for his outstanding contribution to research on thalassaemia and rare diseases; Prof. Stephen Montefort for his outstanding contribution to research on asthma; and Michelle Muscat, the Prime Minister’s wife, for her outstanding contribution to non-profit health organisations.

Launch of PARTNER project for Paediatric Rare Tumour patients

The ExPeRT group (European Cooperative Study Group for Paediatric Rare Tumours and European Reference Network for Paediatric Cancer (ERN PaedCan) were successful in applying for the EU funded three-year PARTNER project. It aims to create a Paediatric Rare Tumour European Registry for children and adolescents with very rare tumours (VRTs), develop clinical guidelines and support LHEAR (Low Health Expenditure Average Rate) countries to be part of this network.

A European registry will be beneficial in improving the care for patients affected by these rare diseases as well as reduce inequalities across the EU. Thanks to this initiative, patients across the EU should be able to gain access to the best expertise available.

Novel European Registry Society Clinical Research Collaboration for alpha-1 antitrypsin deficiency

A new European Registry Society Clinical Research Collaboration (EARCO) intends to foster research in alpha-1 antitrypsin deficiency (AATD). Indeed, EARCO seeks to devise and implement a prospective, international registry of patients with alpha-1 antitrypsin deficiency, in order to understand the natural history of the disease and investigate the impact of different therapies, including augmentation therapy, on the course of the disease.

The main objectives of EARCO are:

To build a network of patients, researchers and clinical experts in AATD to guide future clinical and research priorities in Europe;
To create the EARCO prospective registry with a quality control system;
To establish a consensus among patients and physicians on the main clinical and translational research priorities in the field of AATD;
To support and encourage early career researchers in the field of AATD through involvement in network activities;
To increase the number and quality of clinical trials performed in AATD across Europe.

Such project will pave the way for a better understanding of the natural history of the disease and explore the possibilities of different therapies like augmentation therapy, on the condition.

Eur Respir J. 2019 Feb 14;53(2). pii: 1900138.

Health Economics

Medical costs of patients with alpha-1 antitrypsin deficiency in the United States

A new study published in the Journal of the COPD Foundation aims to assess the medical costs of patients with alpha-1 antitrypsin deficiency (AATD) in the United States. The various costs categories were identified as physician visits, emergency department visits, inpatient stays, augmentation therapy, other prescription drug costs, and other costs. The annual costs among AATD patients totaled $127,537 among augmentation therapy users and $15,874 among non-users. The most significant costs for non-users were physician visits and inpatient stays whereas for augmentation therapy users the major costs were attributable to patient visits and directly linked to augmentation therapy. Finally, annual patient out-of-pocket costs were $4601 and $1689 among augmentation therapy users and non-users, respectively.

Consult the PubMed abstract

Cost-effectiveness analysis of population genomic screening

A study published on 18 February 2019 in Genetics in Medicine examined the cost-effectiveness of preventive genomic screening for the whole set of people between 18 and 25 years old in a single-payer healthcare system. The study focuses on the case of pathogenic variants in BRCA1/BRCA2/MLH1/MSH2 genes, and carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome in Australia. The findings indicate that population screening would reduce variant-attributable cancers by 28.8%, cancer deaths by 31.2%, and cystic fibrosis, spinal muscular atrophy, and fragile X syndrome cases by 24.8%, in comparison with targeted testing. As a whole, the study reveals that in a single-payer health-care system, preventive genomic screening for young adults would be highly cost-effective. Nevertheless, the authors mention that such practice induces ethical considerations that should be taken into account.

Genet Med. 2019 Feb 18.

Consult the PubMed abstract

Evaluation of the number of admissions and the economic burden of phenylketonuria in Spain

An economic analysis published in Clinical Drug Investigation sought to evaluate the number of admissions and the economic burden of phenylketonuria in Spain. The average admissions rate was evaluated at 1.18 admissions per patient per year and the mean healthcare cost per patient was €4239.32.

Clin Drug Investig. 2019 Feb 18.

Orphan Drugs

Orphan designation and positive Health Technology Assessment outcomes

Researchers explored the possibilities for an orphan designation to increase the chances of positive Health Technology Assessment outcomes in countries such as France, Germany and the United Kingdom. On the one hand, they found that Orphan designation had a beneficial effect on enabling rare disease drugs to reach the market and that they had the most significant impact in Germany and Scotland. On the other hand, the designation was less impactful on Health Technology Assessment decisions in France and England.

Consult the article

Social media data for pharmacovigilance

A review published in January by the International Journal of Data Science and Analytics, set out to analyse the use of social data in postmarket surveillance. The main contributions of the paper highlighted by the authors are the identification of the state of play of the knowledge in this area by comparing various approaches, types of social data and sources, and by classifying such social data sources and devising taxonomies for use in pharmacovigilance. The review also allows for new insights in terms of future pharmacovigilance practical applications and research. These findings could shed a new light on the broad use of social data during orphan drug development.

Consult the Springer abstract

Collaborating to overcome regulatory obstacles

A recent meeting gathered Amicus Therapeutics, Inc. and BioNJ, representatives from the Food and Drug Administration (FDA), biopharmaceutical industry, and not-for-profit agencies with the aim to find solutions to bypass regulatory hurdles for orphan diseases. Several strategies singled out during the meeting were:

The use of natural history to produce historical control data in comparisons, simulations, and identifying inclusion/exclusion criteria and appropriate endpoints.
Clinical trial designs and approaches such as blind-start crossover and randomised delayed start trials; single-arm trials with internal or external controls; trials incorporating real-world evidence controls; adaptive study designs that are modified as more data are collected; many-to-one matching methodologies, allowing comparison of one study subject with several historical controls; etc.
The need to devise registries that take into account the protection of patient identities.
To establish close collaboration and communication between the sponsor and regulatory bodies and to collaborate with academia and disease-specific patient organisations for data sharing, and to develop harmonised guidelines for data extrapolation from source to target pediatric populations

All of these innovations are thought to bring down many regulatory barriers regarding rare disease drug development process and therefore boost the availability of new treatments for patients with rare diseases.

Orphanet J Rare Dis. 2019 Feb 8;14(1):36.

Consult the PubMed abstract

Orphan drug patient access in France: still incomplete

A study delved into the issue of patient access to orphan drugs in France. Its analysis of the situation highlighted that orphan drug accessibility is not universal in this country, that the possibility of reimbursement and price issues have crucial consequences regarding patient access and that the latter remains incomplete. The paper also revealed that a long period characterised by low incentives was directly followed by one with strong incentives and that finding a middle ground would be best.

Orphanet J Rare Dis. 2019 Feb 18;14(1):47.

Consult the PubMed abstract

Development of effective drugs for Mucopolysaccharidosis, Gaucher, Fabry and Pompe disease in Spain.

The objective of a recent study was to single out all drug assessments and health technology assessment reports of the enzymatic replacement treatments for four lysosomal storage diseases: Mucopolysaccharidosis, Gaucher, Fabry and Pompe disease. Overall, the study states that the drugs evaluated in LSD have proved to be effective in the most common forms of the disease.

Consult the Sciencedirect abstract

Ethical Legal and Social

Genomic data protection, for participants and family members

A paper discussed the importance of protection of genomic data when sharing patients’ and family members’ data. The authors argue that decision-making and the right of withdrawal of participants as well as family members should be respected.

BMC Med Ethics. 2018 Jun 18;19(1):61

Consult the PubMed abstract

Extent of shared decision making in the case of neuromuscular patients

A report from the 235th European neuromuscular centre workshop explores the theme of patient-centered medicine and shared-decision making in the field of neuromuscular diseases. It summarises the discussions held regarding issues of when, if and how, one should include patients in decisions within medical research and most notably regarding registries and biobanks, clinical trials and regulatory processes. The brainstorming during the workshop led to a call for educational changes as a means to build a better understanding amongst practitioners of the processes allowing for patient involvement and for cultural changes to facilitate the implementation of such processes and structural changes in the sense of workflow management to make patient participation possible.

Consult the abstract

Applying Norman Daniel’s theory to prenatal non-invasive testing

In reaction to the proximate possibility of non-invasive testing for a wide range of genetic disorders within an unborn child’s genome, a study aimed to complement prior examinations of this issue by delving into Norman Daniels’ theory of Just health: meeting health needs fairly. The paper analyses the moral significance of screening in the case of reproductive choice and specifically focuses on serious congenital and childhood disorders. It then states that such practice might represent a possibility for women to protect their health in the case of having an affected child by choosing either to deliver or not the baby.

Med Health Care Philos. 2019 Feb 15.

Consult the PubMed abstract

Functional abilities of people affected by Down syndrome

An assessment of the functional abilities in people with Down syndrome were made in the United States and the Netherlands. It found that for individuals affected and living in the United States, the majority could walk by 25 months of age, speak reasonably well by 12 years, maintain their own personal hygiene by 13 years, and work independently by 20 years. By 31 years of age, 49% were able to read reasonably well, and 46% could write reasonably well. Furthermore, around 30% could travel and live independently. The results from people residing in the Netherlands were similar. Such data is thought to contribute to guidance and decision-making, and patients far from these norms could draw special attention and the need for more support.

Am J Med Genet A. 2019 Feb;179(2):161-176.

Consult the PubMed abstract

Registries Databases and Biobanks

Uveogene: a database for the detection of genetic factors associated with uveitis

A new tool, UVEOGENE, was devised in order to uncover the genetic background of uveitis. It consisted in a database focusing on information associations between single nucleotide polymorphisms. These associations were also shared with Global Variome shared Leiden Open Variation Database (LOVD). The designers then explored the genetic relationship among various uveitis entities, namely Behcet's disease, Vogt–Koyanagi–Harada disease and acute anterior uveitis. They also point to another use of UVEOGENE: a means to work as a resource to identify similarities and differences in the genetic susceptibility among uveitis and other autoimmune diseases.

Hum Mutat. 2019 Mar;40(3):258-266.

Consult the PubMed abstract

Recommendations for recontacting patients

Focusing on the question of recontacting the patient or family as significance of the data evolves and new information is released, the Public and Professional Policy Committee of the European Society of Human Genetics and research groups from the UK and the Netherlands, set out a some recommendations on this topic. They state that the clinical and personal utility of the newly unveiled information should be the prime characteristics to engage a recontacting process. Hence, specific resources should be allocated for this purpose and analyses should be carried out to detect the most cost-effective way of recontacting patients.

Eur J Hum Genet. 2019 Feb;27(2):169-182.

Consult the PubMed abstract

Study Design

Clinical trial design for systemic lupus erythematosus

A study aimed to assess the regulatory framework, examined possibilities for clinical trial conduct as well as strategies to improve access to new medications specifically for childhood-onset systemic lupus erythematosus. The authors explored the possibilities stemming from paediatric extrapolation strategies. According to them, they should be able to limit the number and complexity of studies to monitor for singling out the potential drugs for use in childhood-onset systemic lupus erythematosus. To improve the study efficiency, they also suggest to benefit from the insight of specialised research networks, validated outcome measures, stakeholder input, study designs and statistical methods also used for other rare diseases.

Ann Rheum Dis. 2019 Feb;78(2):162-170.

Consult the PubMed abstract

Bioinformatics

Data fusion and collaborative filtering approaches to assist rare disease diagnosis

A paper published in JMIR Medical Informatics sought to mine information integrated into electronic medical records which are characterised as large heterogeneous datasets in order to facilitate rare disease diagnosis. The study demonstrated that it was possible to design different data fusion strategies from heterogeneous resources and integrate them with a collaborative filtering model in order to assist rare disease diagnosis.

JMIR Med Inform. 2018 Oct 10;6(4):e11301.

Consult the PubMed abstract

Data Management

New classification of rare arrhythmogenic and conduction disorders, and rare arrhythmias

A study published by the Polish Archives of Internal Medecine aimed to provide an updated classification of rare arrhythmogenic and conduction disorders, and rare arrhythmias using Orphanet’s rare disease nomenclature. This classification should allow for advances in research for clinical practice.

Pol Arch Intern Med. 2019 Feb 19

Consult the PubMed abstract

HPO and Orphanet data enrichment

A study published in BMC Medical Informatics and Decision Making presents, through a data-driven approach, the enrichment of rare disease resources (Human Phenotype Ontology and Orphanet) by mining phenotype and disease associations from medical records.

BMC Med Inform Decis Mak. 2019 Feb 14;19(1):32.

Consult the PubMed abstract

Call for the adoption of an open notebook approach

An Open notebook approach consists in publishing laboratory experiments and results in the public domain in real time without omitting anything. Such a practice could fundamentally benefit rare diseases research. Indeed, according to the author, it can both increase scientific impact and serve as a toll to enhance patient groups’ participation in the scientific process. In a paper published in PLOS One, a researcher describes his observations using his own open notebook. He claims that its use provided the opportunity to “showcase their work, push the boundaries of open research practices, and rapidly advance science in their field by making an immediate impact in their communities.”

PLoS Biol. 2019 Jan 28;17(1):e3000120.

Consult the PubMed abstract

Screening and Prenatal Testing

Shedding light on the decision “not to know” and not seek for pre-symptomatic testing

A paper published in the European Journal of Human Genetics explored the decisions to not undertake pre-symptomatic testing of people at-risk for or affected by Machado-Joseph disease and the impact of this decision on family members. They distinguished three main accounts.

First, a justification of deciding not to know because of the lack of clear clinical benefit or an anticipation of the psychological burden of having a predictive knowledge;
Second, a desire to prioritise their daily life and the possibility to keep hope;
Finally, the family conflicts often stemming from the decision as different tolerance thresholds for predictive information can be noted between individuals.

The authors hope to illuminate this type of decision with this study and contribute to genetic counselling and psychosocial support.

Eur J Hum Genet. 2019 Mar;27(3):353-359.

Consult the PubMed abstract

Quality of Life

Spouses’ experience of living with a partner with a rare disease

A study focused on the spouses’ experience of living with a partner affected by pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension. Two dimensions were particularly explored, their impression to live in an insecure life situation and their experience regarding the provision and receipt of information and support. Overall, the spouses reported feeling that they live in an insecure situation and face particular challenges in providing and receiving information and support. Finally, the article suggests for patients to involve more their partner in their contacts with healthcare professionals and for the latter to take into account the family impact of the disease and give information with a family perspective.

ERJ Open Res. 2019 Feb 25;5(1). pii: 00218-2018

Consult the PubMed abstract

Depression and anxiety in patients with rare diseases

A paper published in PLOS One tried to assess the frequency of depression and anxiety in patients with rare diseases. For anxiety, it applied to 23% of the patients studied and 42% indicated moderate or severe symptom levels of depression. This shows that depression and anxiety do represent a significant symptom burden. Moreover, people affected by circulatory system diseases seemed to be more prone to anxiety and depression symptoms seemed to be related to cognitive appraisal. Consequently, the authors suggest to undertake approaches like shared-decision-making to enhance patient’s feeling of control and develop adaptive ways to help them cope with their disease. This paper also highlights the relevance of studying the heterogeneous rare disease population as perceptions of and attitudes towards the diseases seem to be more relevant than diagnosis-related aspects.

PLoS One. 2019 Feb 20;14(2):e0211343.

Consult the PubMed abstract

Challenges of living with a rare disease

Studying the challenges of living with a rare disease a set of researchers shed light on the challenges faced by individuals with rare diseases. The hurdles which were mentioned the most were symptoms, activity limitations, treatments, uncertainty, and companionship support. The authors underline the need for improved medical care to reduce activity limitations, increased awareness, social support, and access to information for people with rare diseases.

J Health Psychol. 2019 Feb 21:1359105319828150.

Consult the PubMed abstract

Link found between Health Related Quality of Life surveys and rates of subsequent emergency room department visits and inpatient hospitalisations

An analysis of Health‑Related Quality of Life in light-chain amyloidosis (AL) patients showed a relation between scores of Health‑Related Quality of Life surveys and rates of subsequent emergency room department visits and inpatient hospitalisations. This finding indicates that Health‑Related Quality of Life surveys could be used as a means to identify risks of emergency room department visits and inpatient hospitalisations as well as an indicator of disease severity.

Pharmacoecon Open. 2019 Feb 22

Consult the PubMed abstract

Zellweger spectrum disorders and the emotional experience of family caregivers

A study on Zellweger spectrum disorders sought to assess the emotional experience of family caregivers. Three dimensions were investigated: the emotional response, stressors and coping strategies. The analysis revealed that caregivers often felt overwhelmed and devastated, that they were particularly stressed by the burden of the tasks associated with the disease and negative interactions with healthcare professionals and usual coping strategies included acceptance of the limitations of the diseases, redefining normality in the parent-child relationship, and advocating on behalf of the child and the patient community. Hence, it is emphasised that targeted approaches with a special attention to improved communication could improve the quality of life of families affected by Zellweger spectrum disorders.

Mol Genet Metab Rep. 2019 Feb 14;19:100459.

Consult the PubMed abstract

Do repeated surgeries in the case of recurrent respiratory papillomatosis impact patients’ voice outcomes?

A paper published in Journal of Voice intended to assess the impact of multiple surgical treatments on recurrent respiratory papillomatosis patients’ voice outcomes, and hence verify if a higher number of repeated surgeries leads to a decreased voice quality. The results of the study were actually surprising and the number of surgeries did not seem to affect the patients’ voice.

J Voice. 2019 Feb 19. pii: S0892-1997(18)30552-6.

Consult the PubMed abstract

Burden of severe mucopolysaccharidosis type I on caregivers

An online survey aimed to collect information on the burden of severe mucopolysaccharidosis type I in the United States. It unveiled that even though caregivers were usually quite satisfied with the healthcare services, 69% reported that their tasks as a caregiver had a negative impact on their work and 54% declared not to work in order to care for their child.

Orphanet J Rare Dis. 2019 Feb 18;14(1):48.

Consult the PubMed abstract

Summary of the edition of 20 March 2019

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