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Edition of 14 August 2019

International News

USA: New FDA paper on the Office of Orphan Products Development

The United States Food and Drug Administration released last month a paper published in the Journal of Pharmacokinetics and Pharmacodynamics, presenting the objectives of the Office of Orphan Products Development in the administration. It specifically focuses on the incentives offered, and the challenges faced for the development of orphan drugs.

J Pharmacokinet Pharmacodyn. 2019 Jul 5.

Consult the PubMed abstract

Exscientia and Rallybio’s joint venture to accelerate drug development for rare diseases

Exscientia, an artificial intelligence and machine learning driven drug discovery company has initiated a collaboration with Rallybio, a US drug development company specialised in rare diseases. The idea is to combine the artificial intelligence expertise with a precise knowledge of rare disease to boost the discovery of small molecules drug therapeutics for undisclosed rare disease indications.

European News

Educational initiatives: EURORDIS’ winter school for patient empowerment and platform

Applications are open for EURORDIS’ open Academy Winter school which will take place on 9-13 March 2020 at the Imagine Institute in Paris. The programme main goals is to empower patient advocates to effectively engage with other stakeholders. The winter face-to-face training on scientific innovation and translational research aims for participants to become more knowledgeable on how pre-clinical research translates into real benefits for rare disease patients.

EURORDIS is also developing an e-learning platform with over 50 courses on the topics of medicines, research and development, translational research and scientific innovation.

EU Commission reminder of the steps to follow by marketing authorisation holders regarding UK withdrawal from the EU

Following the extension of the period provided for in Article 50(3) of the Treaty of the European Union, the United Kingdom will be a third country as of 1 November 2019. The Commission therefore reminds the process decided in a note on 21 February 2019 entitled “Withdrawal of the United Kingdom and EU rules for batch testing of medicinal products”. Indeed, it stated that marketing authorisation holders can continue to rely on quality control testing performed in the United Kingdom for a limited period of time after the UK becomes a third country. Nevertheless, the Commission stresses the fact that it is crucial that marketing authorisation holders end their preparations by 1 January 2020 and that the transfer of all batch testing facilities to the EU27/EEA and the necessary regulatory submissions are fully completed by then.

Read more
Consult the February 2019 Communication

Serbia: Challenges, needs of patients in Serbia and the necessity of the adoption of a national strategy for rare diseases

A paper focusing on Serbia’s situation regarding rare diseases set out to examine the needs of helpline users and forms of assistance provided by the helpline team. The needs of the people contacting the helpline mainly concerned healthcare, social care and psychological support. Concerning legal assistance the most common need was on legal aspects of access to and reimbursement of expenses for medications and procedures for reimbursement of treatment abroad. The researchers found that patients and families often face problems posed by the lack of relevant information and knowledge, as well as the non-recognition of rare diseases in the laws and regulations of health and social care. Hence, they strongly advise for changes in the legal domain as well as improvement in terms of organisation which would be best implemented by the adoption of a National Strategy and Action Plan for Rare Diseases.

Health Soc Care Community. 2019 Jul 17

Consult the PubMed abstract

Health Economics

Economic and clinical burden of cardiac amyloid light-chain amyloidosis in the United States

A study focusing on cardiac amyloid light-chain amyloidosis set out to assess the economic and clinical disease burden of hospitalisation for this condition. The mean length of stay was 8,3 days with a rate of 16,8% of readmission within 30 days and the average overall hospitalisation costs were $20 584. So, the article reveals important hospitalisation costs for cardiac amyloidosis, and a high rate of readmission and mortality which demonstrates a high burden of such condition. The authors suggests a possibility to improve care for cardiac amyloid light-chain amyloidosis in the United States.

ClinicoEconomics and Outcomes Research 2019:11 431–439

Orphan drugs

The role of small molecule development and links made with common disease as a means to maintain the sustainability of drug budgets

Stemming from the fact that despite an acceleration of the development of novel therapies for rare diseases, high price threatens their sustainability, a paper analyses possibilities to solve this issue. The authors base their analysis on the case of lysosomal storage disorders. They emphasise the opportunities of making connections between common and rare diseases in order to facilitate funding access and the use of small molecules. They also point to the emotional incentive of working on research for rare diseases as synthetic chemists are particularly valued when such conditions are targeted.

ACS Med Chem Lett. 2019 Jun 18;10(7):1020-1023.

Consult the PubMed abstract

Catalonia: reflective multicriteria decision analysis methodology as a tool to support the decision-making process for orphan drugs

The Catalan Health Service (CatSalut) recently started a programme for a multidimensional assessment of orphan drugs value during the appraisal process using a reflective multicriteria decision analysis. Therefore, the objective of a study conducted on this programme was to determine whether the implementation of reflective multicriteria decision analysis methodology could support the decision-making process about orphan medicines in the context of CatSalut. Indeed, the analysis proved that it could be used to facilitate the decision-making process in CatSalut, thanks to its capacity to distinguish the clinical added value for orphan medicines. It also provided transparency and structure to the committee meetings, increasing the predictability of the relevant items supporting the agreements adopted on orphan drugs access.

Orphanet J Rare Dis. 2019 Jun 27;14(1):157.

Consult the PubMed abstract

Ethical Legal and Social

New FDA guidance on clinical trials to enhance participation

A new FDA guidance on clinical trials recommends to use approaches that sponsors of clinical trials for a new drug application, or a biologics license application can take to broaden eligibility criteria, when scientifically and clinically appropriate, as well as increase enrollment of underrepresented populations in their clinical trials. Regarding the specific case of rare diseases the FDA suggests for sponsors: to engage early in the drug development process with patient advocacy groups and take into consideration their their suggestions for the design of trials; plan to re-enroll participants from early-phase trials into later-phase trials when studying the effectiveness of treatments for rare diseases (in limited circumstances, if medically appropriate, and if there is no unreasonable anticipated safety issue); and make available an open-label extension study after early-phase studies to encourage participation by ensuring that all study participants, including those who received placebo, will ultimately have access to the investigational treatment.

Gender-specific experiences of caregiving and social support for parents of a child affected by a rare disease

A recent article aims to pinpoint the challenges common to parents of children with a rare disease. Most notably the paper takes into account the kinds of social support they experience according to gender. The study revealed that there is a specific experience of the impact that caregiving has on fathers’ and mothers’ relationships with their jobs and on their worries and that parents relied mainly on self-help groups as a source of social support.

Front. Psychol.

Consult the abstract

Issues concerning secondary findings from whole-exome and whole-genome sequencing

A set of researchers decided to examine the issue of secondary findings from whole-exome and whole-genome sequencing and the concerns it raises. Interviews and a review of the literature were compiled on the subject. What seemed crucial for respondents was the concept of the patient’s choice. Healthcare providers outlined the necessity of defining policies for secondary findings among diagnostic lab, learning societies and countries. They particularly stressed the importance of clearly defining the content and extension of the list of actionable genes to propose, the modalities of information, and the access to information about adult-onset diseases in minors. Nevertheless, the lack of clear definition for secondary findings in the studies analysed obliges to consider these results with caution.

Eur J Med Genet. 2019 Jun;62(6):103529.

Consult the PubMed abstract

Bioinformatics and Biotechnology

Drug repurposing

An article published in Translational and Clinical Pharmacology aimed to produce a review of drug repurposing techniques. It begins by summarising current repositioning strategies and computational methods. Then, it presents the validation techniques necessary for repurposing studies. Finally, it describes the challenges in need to be faced in the field of computational repurposing.

Consult the abstract

TGstools: a new device for facilitating routine tasks

An article published in Genes presents TGStools, a bioinformatics suite to facilitate routine tasks such as characterising full-length transcripts, detecting shifted types of alternative splicing and long noncoding RNAs (lncRNAs) identification in transcriptome analysis. It also prioritises the transcripts with a visualisation framework that automatically integrates rich annotation with known genomic features. Indeed, transcriptome sequencing can be used for diagnosing rare Mendelian diseases making this device a useful tool in the rare diseases clinical research and care.

Genes (Basel). 2019 Jul 10;10(7). pii: E519.

Consult the PubMed abstract

Registries and Biobanks

RD-RAP: For an analytics-centric approach applied to registries

In an article published in the Orphanet Journal of Rare Diseases, a team of researchers propose an alternative to current registry types which tend to seek to incorporate the maximum functionality possible. They emphasise the need to incorporate analytics as core to a patient registry rather than using registries as a ‘data capture’ solution. They argue that an analytics-centric approach renders the possibility of evaluating the individual outcomes of health interventions in real time a reality. This should permit the extraction, creation and reuse of knowledge to improve health outcomes, assist clinical decision making, and improve health service design and delivery. Consequently, and in line with such considerations, the authors present their concept of a Rare Disease Registry and Analytics Platform (RD-RAP) which they hope, will improve the life of those affected by a rare disease.

Orphanet J Rare Dis. 2019 Jul 12;14(1):176

Consult the PubMed abstract

Data and information collection through large-scale analysis of the Castleman Disease Collaborative Network

A paper presents an analysis performed on the international contact database and electronic repository of the Castleman Disease Collaborative Network. This study allows for an examination of disease phenotypes, characteristics of patients interested in contributing to research by sharing data and biospecimens, and methods for successfully acquiring the latter. The main factors facilitating enrollment in the electronic repository exposed were severity of disease subtype, proximity to the research, and patient motivation.

Orphanet J Rare Dis. 2019 Jul 11;14(1):173

Consult the PubMed abstract

Facilitating and spreading the use of registries

An article published in Drug Safety sought to find solutions in order to intensify the use of patient registries which the authors qualify as an underused resource. It identified ten factors facilitating the use of patient registries:

the use of common core data sets
the availability of common data coding terminologies
the collection of complete information on critical disease variables
the existence of relevant national and European data protection legislation for data sharing and access
the capacity to make data linkages
the processes of registry reporting and quality assurance
the timeliness of consideration of registry data
the use of direct communication
the possibility of registry sustainability
the availability of a regulatory framework

Moreover, the article makes proposals on possible operational measures for implementation. These were organised according to three main points: the nature of the data collected and the registry quality assurance processes; the registry governance, informed consent, data protection and sharing; and finally the stakeholder communication and planning of benefit-risk assessments.

Consult the PubMed abstract

Slovenia: developing and improving a rare disease ecosystem including a rare disease registry

A paper published on 9 July describes the rare diseases ecosystem in Slovenia and the challenges hindering the development of a national rare disease registry in Slovenia. According to the paper, organised efforts backed by the necessary funding resources are vital to establish a national rare disease ecosystem including a rare disease registry. Such goal also requires coordination and collaboration between all stakeholders, amendments of the regulation, implementation of a general rare disease policy. Finally, the authors highlight the importance of a good alignment of medical, organisational, and technological aspects in accordance with the long-term public healthcare objectives. Indeed, they emphasise the key aspect of “the harmonisation of digital solutions with other systemic factors and the adaptation of the rare disease ecosystem to the patients' needs and the specifics of the healthcare environment” for effective healthcare delivery.

Orphanet J Rare Dis. 2019 Jul 9;14(1):172.

Consult the PubMed abstract

Screening and Prenatal Testing

UK: Trends in prenatal diagnosis and preimplantation diagnosis for Huntington disease

A study in the United Kingdom sheds light on the main trends in prenatal diagnosis and preimplantation diagnosis for Huntington disease. From 1988 to 2015, 479 prenatal diagnoses were performed and an exclusion approach was used in 31% of cases. The annual rate of prenatal diagnosis has remained unchanged at around 18% over 27 years. Moreover, the study demonstrates a tendency to increasingly use preimplantation genetic diagnosis since 2002. So, the authors resume by stating that in spite of this last increase in preimplantation genetic diagnosis use for Huntington disease, both direct and exclusion prenatal diagnosis are still practiced. Hence, the authors suggest to make sure that couples are informed of all the options available.

Genet Med. 2019 Jul;21(7):1639-1643.

Consult the PubMed abstract

Study Design

Ethical and practical considerations, challenges and guidance for sponsoring patient relocation to clinical trial sites

The nature of rare diseases renders clinical trials quite difficult to conduct as they involve a limited number of research sites recruiting from a small pool of patients dispersed over a large geographical area. When the patients’ presence is required, this might entail long distance travels. Hence, a recent article explores the ethical and practical issues associated with the practice of sponsors offering financial and other assistance for relocation to trial sites. The paper offers a foundational analysis of the ethical issues at stake as well as guidance on a policy level as regards to the best approach to undertake in these cases.

Contemp Clin Trials. 2019 Jul 19:105812.

Consult the PubMed abstract

Patient prioritisation regarding participation in early-phase gene therapy trials for Duchenne muscular dystrophy

In a study published in the Orphanet Journal of Rare Diseases, caregivers and patients were asked to prioritise factors influencing decision-making regarding participation in early-phase gene therapy trials for Duchenne muscular dystrophy. Overall, participants prioritised improved muscle function in trial decision making and improved lung and heart function. Another prevailing issue was that participation might limit a later use of gene transfer and editing. Participants cared least about muscle biopsies and potential for randomisation to placebo. Hence, the study exposes a prioritisation of the anticipated benefits over potential harms and procedures which should well inform gene therapy trial decision-making.

Orphanet J Rare Dis. 2019 May 9;14(1):102.

Consult the PubMed abstract

Quality of life

Analysis of social characteristics, education, and work-related activities of Wilson disease Polish patients

A new study conducted on a cohort of Polish patients affected by Wilson disease intended to analyse the social characteristics, education, and work-related activities and how they are affected by symptoms and treatment persistence. The results indicated that Wilson disease strongly negatively affected the education level and the work ability of patients. Moreover, a comparison between patients with neurological manifestations and those with hepatic manifestations reveals that the former less often achieved upper-secondary, post-secondary or higher education and less frequently stated salary as the primary income for which was often cited disability pension. Finally, the percentage of married patients with Wilson disease was lower than in the general population.

Orphanet J Rare Dis. 2019 Jul 5;14(1):167.

Consult the PubMed abstract

New strategies for quality of life measurement

A report from the Office of Health Economics Consulting examines measurement methods regarding quality of life for patients with rare diseases. Basing their analysis on a study of spinal muscular atrophy, the paper first identifies a number of methods and approaches which seemed inadequate to the measurement of quality of life in spinal muscular atrophy. Then, it sheds light on various strategies for improving the quality and quantity of data available for decision makers:

Bespoke data collection which is relevant to health technology assessment decision-makers;
Simple economic modelling methods, which reflect the evidence available at the time of the assessment;
Collaboration among the different parties involved;
Identifying what is ‘good enough’ to inform decision-making on use at the time of launch or of the health technology assessment process

Indeed, these new approaches, the article claims, should make health technology assessment processes easier to conduct and improve patients’ access to cost-effective treatments for rare diseases.

Consult the report

Caregiver burden associated with Sanfilippo syndrome type B

A study published in the Orphanet Journal of Rare Diseases analyses the caregiver burden associated with Sanfilippo syndrome type B. The findings show that Sanfilippo B affects all aspects of family life. The main factors associated with caregiver burden were sleep disturbances, impulsive and hyperactive behavior, and communication difficulties. In addition, the high level of burden was reported as permanent throughout the life of the patient and the physical burden of daily care had a considerable impact on the caregivers. This situation was found to produce significant psychological stress.

Orphanet J Rare Dis. 2019 Jul 8;14(1):168.

Consult the PubMed abstract

Summary of the edition of 14 August 2019

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