Summary

Back to summary

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

Share:

Edition of 29 March 2019

International News

New Canadian rare disease research platform for precision medicine

Gene42 a Canadian startup founded in Toronto in 2014 has launched the first rare disease research platform in the country called Genomics4RD in partnership with Care4Rare, a research association with the goal to facilitate precision medicine for rare disease. The project sets out to deliver diagnostic care for genetic rare diseases through the use of multi-omics. Indeed, its final outcome is to single out the yet undiscovered genetic origins of rare diseases. It is designed to collect and share structured data and to help health practitioners sharing data collected in standard computable formats from hospital health records.

USA: NORD launches a new patient assistance program for Lambert-Eaton Myasthenic Syndrome

NORD launched a new Patient Assistance Program for Lambert-Eaton Myasthenic Syndrome (LEMS). The program offers financial support for United States’ citizens affected by LEMS with insufficient resources in order to cope with out-of-pocket healthcare costs including health insurance premiums, deductibles, copayments and coinsurance costs for the care and treatment of LEMS. Applications can be made on NORD website.

Australia: $38.6m for clinical trials on rare cancers and diseases

The Australian government announced that it will allocate $38.6 million to support 23 new clinical trials. It is hoped that the trials will improve treatments and discover cures for debilitating and deadly rare cancers and rare diseases. The announcement includes $10.8 million for rare cancer clinical trials and $18.3 million for rare diseases clinical trials. The program includes a trial to examine various chemotherapy treatments for the highly fatal glioblastoma brain cancer, a trial to assess the use of precision medicine in treating relapsed high-grade Glioma and another one to use the new combined chemotherapy treatment to target brain tumours in children.

European News

Release of RD Action final report

RD-Action just released the final report of its activities and key achievements coordinated by Orphanet at INSERM. This three-year European Joint Action aimed at ensuring an integrated European approach to the challenges faced by the rare disease (RD) community and at promoting, catalysing and triggering multi-stakeholder debates which are necessary both at European level, to build shared strategies, and at national level, to support the integration of EU policies on rare diseases across Member States. The report outlines key achievements: providing information and data on RDs; improving identification of RDs in health information systems; ERNs support; drafting the State of the Art of Rare Disease Policies in Europe & Beyond; support to sustainable and resilient health systems; fostering national RD plans and strategies; and organising the European Conference on Rare Diseases & Orphan Products 2016. Finally, the document calls on the European Commission to reaffirm its leadership in an area where it is unanimously recognised that the EU added value is very high.

UK: The Big Sunflower Project

A United Kingdom project for the third year in a row, aims to raise awareness of rare neuromuscular diseases, most notably centronuclear and myotubular myopathy, called for people to grow sunflowers. The concept relies on sending seeds to people unaware of these conditions and ask them to plant them and post photos online. Donations are welcomed in order to support the project.

Netherlands: European Medicines Agency officially in Amsterdam

The European Medicines Agency has now officially opened and started to operate in the Spark building, Amsterdam. The European Medicines Agency is set to lose about 25% of its staff in the move to the Netherlands and the uncertainty regarding the Brexit process forces companies and institutions to proceed as if the UK was heading toward a no-deal Brexit.

Spain: Event for Rare Disease Day presided by Queen Letizia of Spain

The FEDER - Federación Española de Enfermedades Raras (Spanish federation for Rare Diseases) organised an event for Rare Disease Day presided by Queen Letizia of Spain for the tenth year in a row. Indeed, this year's 12th edition of Rare Disease Day was celebrated on the 28 February by patient groups, policy-makers, healthcare professionals and industry representatives who came together to hold thousands of events across a record 101 countries. The Queen pointed out the need to foster collaboration between the private and public sector. Dr. Ana Rath, Director of Orphanet, also provided data on the number of clinical trials conducted in Spain which represent 11% of all European clinical trials. She emphasised the need to understand the global scale of rare diseases, boost international cooperation and celebrated the fundamental role of European reference networks.

Read more (in Spanish)

Scotland: Spinraza therapy now available for all in Scotland

Spinraza therapy for spinal muscular atrophy is now available to Scottish patients at low or no cost for at least three years. As of April 2019 all SMA types 1, 2 and 3 patients will receive Spinraza injections which has been designated as an ultra orphan drug.

Health Economics

Economic burden of the chronic thromboembolic pulmonary hypertension in Russia

A study published in Ter Arkh sought to assess the economic burden of the chronic thromboembolic pulmonary hypertension in Russia. It highlighted the fact that the economic burden is relatively low in Russia due to the late diagnosis resulting from the absence of disease-specific symptoms. The mean costs per patient and per year were calculated at 805,901 RUB and the total cost for the whole Russian population was 379 million RUB per year. Hence, the authors recommend the development of expert pulmonary hypertension centres and increase of the access for pulmonary arterial hypertension specific therapy.

Ter Arkh. 2018 Sep 20;90(9):101-109

Assessment of US health insurers retention rate of subscribers with pediatric rare disease

A study on US health insurers, stemming from the observation that subscribers tend to change insurers relatively often, focuses on the retention rate of their subscribers with a child affected by a rare disease. It found that parents in this situation remained longer with their commercial health insurers. The authors then point toward the possibility of special payment arrangements for this specific population and that it is a fact for policymakers and health insurers to keep in mind when considering a therapy which may have long-lasting effects via a single administration.

J Manag Care Spec Pharm. 2019 Feb;25(2):186-195.

Cost-effectiveness evaluation for newborn screening alternatives: the case of biliary atresia

A cost-effectiveness analysis was conducted in Canada regarding the possibility of implementing a home-based infant stool colour card with passive card distribution strategy, or conjugated bilirubin testing in order to screen newborns for biliary atresia, a rare newborn liver disease. The home-based infant stool colour card with passive card distribution strategy option was evaluated as cost-effective as it led to eight life-years gained and cost $2,369,199 less than the bilirubin testing alternative.

Consult the PubMed abstract

Orphan Drugs

Treatment advances of rare corneal disease

A review published in Drug Discovery Today examined the perspective of improving treatment of rare corneal disease. It stresses the fact that even though ocular drug delivery is an expanding field, much can be done via the application of next-generation therapeutics. Many medications are following a process of reformulation into sustained or controlled-release systems and have shown good results. Finally, thanks to advances regarding orphan drug legislation rare corneal diseases are now better addressed than before and the authors claim that a key issue in this field is to jointly address vision complications and comfort as a means to improve patient quality of life.

Drug Discov Today. 2019 Mar 12. pii: S1359-6446(18)30383-0.

Consult the PubMed abstract

FDA’s and EMA’s approval of non-randomised trials

BMJ Open published a review to describe the characteristics of non-randomised trials submitted to the European Medicines Agency (EMA) or Food and Drug Administration (FDA) for indications in haematological cancers, haematological non-malignant conditions, stem cell transplants or rare metabolic diseases. The paper’s finding indicates that 98% of submissions were approved with 56% granted an accelerated approval although most required post-approval confirmatory randomised controlled trials. The EMA approved 79% of submissions with around 25% also requiring post-approval randomised control trials. So, the study showed that regulation bodies were keen to approve this type of submission but that many often required further control trials.

BMJ Open. 2019 Feb 27;9(2):e024895.

Consult the PubMed abstract

Ethical Legal and Social

Analysis of psychosocial intervention programs to assist parents in coping with a child’s cancer

Focusing on the lack of analysis of intervention programs to assist parents in coping with a child’s cancer, a review intended to identify such programs and describe their models, activities and development process. Many models provided an explicit theoretical framework, targeted outcomes and a clear implementation strategy. Moreover, preliminary development studies were conducted in a majority of cases but lack of information on the way development stages may inform the redesign of intervention programs was observed. Furthermore, one-third of the programs did not provide acceptability and treatment fidelity. As a whole, the authors suggest that for a quality appraisal to be conducted, reports should give details on the development and design of the stages prior to conducting efficacy trials.

J Clin Psychol Med Settings. 2019 Feb 26

Consult the PubMed abstract

Study Design

Suggestions of modifications of the International Working Group response criteria for myelodysplastic syndromes

A special report published in Blood Journal intended to review the International Working Group response criteria modified in 2006 and adopted in clinical trials, especially for myelodysplastic syndromes. The authors recommend baseline assessments, response evaluation, and evaluation of progression or relapse after Indeed, they suggest that such changes will permit for a personalised pre and on study assessment and will allow for the myelodysplastic syndromes patients to receive more accurate results.

New disease activity measure for systemic lupus erythematosus

A new study designed a disease (SLE), the SLE Disease Activity Score. According to the authors its construct validity is sound and it achieves better results than its alternative SLE Disease Activity Index in singling out clinically significant changes in disease activity and in predicting damage accrual.

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

Consult the PubMed abstract

New scale for rating the severity of autoimmune encephalitis

A team of researchers set out to develop a new scale for rating the severity of autoimmune encephalitis and test its reliability. The scale devised, entitled Clinical Assessment Scale in Autoimmune Encephalitis includes 9 items: seizure, memory dysfunction, psychiatric symptoms, consciousness, language problems, dyskinesia/dystonia, gait instability and ataxia, brainstem dysfunction, and weakness; each one was assigned a value between 0 and 3 with the total score up to 27 points. It demonstrated good interobserver and intraobserver reliability and internal consistency. Hence, the authors state that it represent a good tool for clinical practice.

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

Consult the PubMed abstract

Bioinformatics

Machine learning for rare tumours: identifying differences between and within entities

As a means to face the problem posed by the difficulty to distinguish between the various types of tissue sarcoma subtypes, researchers tried to apply machine learning to the field of rare tumours. Most notably they applied machine learning on transcriptome sequencing data in order to try to understand the differences between and within entities. Indeed, this technique was able to identify novel diagnostic markers, prognostic markers and therapeutic leads from multiple soft tissue sarcoma gene expression datasets.

PLoS Comput Biol. 2019 Feb 20;15(2):e1006826.

Consult the PubMed abstract

Data Management

Book chapter on data linkage technology within healthcare service deliveries

A chapter in a recently published book, Data Science for Healthcare, points out the striking disconnection of health data sources across healthcare services and provides an overview of the possible methods for the application of data linkage technology to healthcare. This is complemented by a discussion on the legal and privacy requirements and regulations in this area.

Consult the abstract

Screening and Prenatal Testing

Noninvasive prenatal screening results dissemination and genetic counseling election for a large population

A study published by Mary Ann Liebert, aimed to to evaluate patient utilisation, motivation for genetic counseling, and satisfaction of a technology platform designed for large-scale dissemination of Noninvasive prenatal screening (NIPS) results. 95.2% (n = 4,450) of post test consultations were for patients receiving negative results and more than 70% (n = 3,370) of consultations were on-demand rather than scheduled. Finally, positive screening results, advanced maternal age, family history, previous history of a pregnancy with a chromosomal abnormality, and other high-risk pregnancy were associated with the highest likeliness of choosing genetic counseling. Hence, the paper proves the possibility of delivering NIPS results education, and counseling to a large set of individuals.

Telemed J E Health. 2019 Feb 26.

Consult the PubMed abstract

New age-based method to evaluate genome-scale sequencing results in newborn screening

A paper published in the Journal of Pediatrics sought to assess the utilisation of a standardised, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other available methods. The study demonstrates that such method facilitates the choice to use genomic sequencing for newborn screening.

J Pediatr. 2019 Mar 6. pii: S0022-3476(18)31744-X.

Consult the PubMed abstract

Health technology assessment of NIPT

A health technology assessment was carried out by Health Quality Ontario in order to evaluate the accuracy and usefulness of noninvasive prenatal testing (NIPT) for trisomies 21, 18 and 13. It was found that it was an effective, safe method for these conditions and that it was more accurate than traditional prenatal screening. The results also demonstrated that second-tier NIPT compared to traditional NIPT slightly reduced costs but that it increased considerably the costs when compared to first-tier NIPT. The patients interviewed seemed to report a good experience with second-tier NIPT but were concerned by the information received about chromosomal anomalies.

Ont Health Technol Assess Ser. 2019 Feb 19;19(4):1-166.

Consult the PubMed abstract

Quality of Life

Quality of life assessment of adult patients operated for Hirschsprung disease

A study aimed to evaluate the quality of life and social outcome of adult patients operated for Hirschsprung disease during childhood. The paper indicates that their quality of life is only relatively poorly impaired. The two most affected dimensions were physical symptoms and diarrhea whereas fecal continence, total Hirschsprung’s disease and anorectal malformations were qualified as only marginally impairing.

Dis Colon Rectum. 2019 Feb 18.

Consult the PubMed abstract

Summary of the edition of 29 March 2019

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