Edition of 16 August 2024

Share:

International News

Readiness assessment for expanding newborn bloodspot screening in Australia: Executive summary available

The Australian government’s Department of Health and Aged Care is currently undertaking an expansion of the nation’s newborn bloodspot screening (NBS) programs, with an end goal of increasing the number and consistency of conditions which are screened, and of ensuring equitable access to screening regardless of location. As part of this initiative, the Department commissioned a readiness assessment to better understand how NBS programs currently operate nationally and the factors critical to expanding NBS while maintaining quality and safety. An executive summary of the assessment is now available, providing an overview of its key findings.

The report was developed using a readiness assessment framework containing five domains which influence readiness for expansion. Of these, the following were identified as requiring the most support to achieve expansion:

Laboratory capacity and capability, which will need to be developed through measures such as an expanded workforce and new screening instrumentation.
Clinical capacity, which will require support for certain condition types which require new complex clinical care pathways.
Data and information systems, which need to be upgraded to allow for the analysis of more complex conditions while reducing error risk and workload for the current workforce.

As the Australian government moves forward in expanding the NBS program, the above domains must be considered when determining the pace and order in which screening for new conditions are introduced. Crucially, successful implementation will rely on ongoing coordination and collaboration between the federal and regional jurisdictions, particularly during the planning stage.

The release of the executive summary was welcomed by Rare Voices Australia (RVA), the country’s national peak body for Australians living with a rare disease. In particular, the organisation celebrated the report’s finding that “NBS programs can achieve consistency in conditions screened within current resources.” Overall, the findings of the assessment are positive with regards to the feasibility of the planned expansion, and represent a concrete step towards an expanded NBS program in Australia.

Advancing rare disease research in the United States through collaboration: Work of the NCATS Division of Rare Diseases Research Innovation

Researchers at the Division of Rare Diseases Research Innovation (DRDRI) of the United States’ National Center for Advancing Translational Sciences (NCATS) have published an article in Rare Disease and Orphan Drugs Journal describing the organisation’s past and current work to advance rare disease research.

DRDRI was originally created as the Office of Rare Diseases (ORD) in 1993 to implement recommendations from a report by the National Commission on Orphan Diseases. Over the next three decades, ORD undertook a wide range of activities to further RD research including developing the Genetic and Rare Diseases Information Center (GARD), investing in the development of treatments and diagnostics for RD, and providing support to centres of excellence and initiatives such as IRDiRC and the NIH’s Undiagnosed Diseases Network (UDN). In parallel, NCATS was created in 2011 with the goal of accelerating the availability of new treatments for patients and ORD was incorporated into the new Centre. In 2022, ORD became DRDRI as it exists today, further emphasising the importance of RD research within NCATS.

Currently, DRDRI plays an important role in promoting coordination and cooperation among NIH research institutes and centres that support RD research. It also provides direct support to research activities, with a recent focus on clinical trial designs that leverage common characteristics of RD and innovative technologies such as gene therapy and genome editing. Finally, the Division coordinates a number of outreach activities such as the annual Rare Disease Day at NIH event. On the international level, DRDRI also collaborates with stakeholders from all sectors, including patient organisations, researchers, and the biopharmaceutical and medical devices industries.

Throughout all their activities, DRDRI takes a collaborative approach to render their efforts as effective and holistic as possible. The authors emphasise that such an approach is critical to effectively advancing and navigating a global rare disease community.

USA: NORD holds annual Living Rare Forum and Rare Impact Awards

From 7-8 June in Los Angeles, California, the United States’ National Organization for Rare Disorders (NORD) held their annual Living Rare, Living Stronger Patient and Family Forum and Rare Impact Awards.

The Living Rare Forum brought together people living with a rare disease (PLWRD), their families, and other key actors in the US rare disease landscape to participate in workshops addressing some of the greatest challenges of life with a rare disease. These included topics such as health equity; barriers posed by health insurance companies; newborn screening; and genetic testing. A special town hall was also held for California residents to discuss the importance of introducing a Rare Disease Advisory Council in the state.

Following the Forum, NORD held their annual Rare Impact Awards ceremony to honour figures who have demonstrated their devotion to making positive change for the rare disease community. This year’s honourees were a diverse group including research pioneers, patient advocacy leaders, and innovative companies. A special tribute was also made to Peter L. Saltonstall, who retired as CEO of NORD earlier this year. He received a medal commemorating his 16 years of service to the organisation, and a video was shown in which leaders from across the rare disease community shared messages of gratitude to him. Yann Le Cam, former CEO of EURORDIS, was also awarded the Lifetime Achievement Award in recognition of his three-decade history of advocacy at both the European and international levels. For more information about the Rare Impact Awards, including a full list of this year’s honourees, visit NORD’s website.

Recordings of discussions from the Living Rare Forum, the awards ceremony, and a two-minute highlight reel are available for replay on NORD's YouTube channel.

European News

Health policy following the 2024 EU elections and the future of rare disease advocacy

In the wake of the 2024 European elections, EURORDIS has published an explainer on the institution’s next steps and what the results mean for rare disease advocates. In the lead-up to the elections, 90 candidates for the European Parliament signed on to the organisation’s #ActRare2024 pledge, committing to specific policy actions to ensure an improvement in the lives of people living with a rare disease in Europe. This demonstrates a promising will among elected officials to work towards a European Action Plan for Rare Diseases, the next major step towards meeting the needs of the rare disease community.

More generally, health featured in nearly all major parties’ platforms. Recently, the Employment, Social Policy, Health, and Consumer Affairs (EPSCO) Council published conclusions on the future of the European Health Union, emphasising the importance of prioritising health in the 2024-29 EU Strategic Agenda and urging national heads of government in the European Council to promote solidarity in the field of health. They specifically called for the implementation of effective policies in the area of non-communicable diseases, including rare diseases. If adopted, a European Action Plan on Rare Diseases would work in service of this goal and ensure that people living with a rare disease are included in the continued development of a European Health Union.

In addition to the recent elections, the EPSCO Council’s conclusions and EURORDIS’ explainer come in light of the recent reallocation of €1 billion away from the health budget and a conspicuous absence of health from the proposed strategic agenda. These developments are troubling to civil society groups, who fear that their combination will leave health systems underfunded and unequipped to deal with ongoing challenges.

Following the European Conference on Rare Diseases (ECRD) held in May of this year, EURORDIS published an open letter to the European Commission with recommendations to incoming policymakers. The overarching call of the letter was for the establishment of a comprehensive European Action Plan for Rare Diseases. For more information on the importance and proposed components of such a plan, view the open letter here and read the recently published executive summary of ECRD 2024.

Health Economics

Decision-making processes for economic evaluation of newborn screening programmes: A case study of Quebec

An article has been published in the International Journal of Neonatal Screening which uses the Canadian province of Quebec as a case study to explore how methodological advances in economic evaluation may impact decision-making for newborn screening (NBS).

While health systems typically recognise the importance of making decisions about the availability and reimbursement of services based on scientific evidence, matters become complicated when such evidence is limited and/or difficult to generate. For example, the majority of conditions typically considered for inclusion in NBS programmes are rare, restricting the ability to conduct statistically significant epidemiological studies and hence rendering decision-making complicated.

In this study, researchers aimed to understand how decision-makers in Quebec perceive the value of recent advances in economic evaluations for perinatal studies and how these advances might affect the offer of neonatal interventions in the public health care system. Following interviews with 10 policymakers, the authors identified two key findings.

First, participants displayed a consensus opinion that the current approach to assessing NBS (which relies on an HTA agency) is satisfactory for minimising arbitrary aspects of the recommendations made regarding the health care system’s provision of interventions. Secondly, they felt that conducting cost-utility evaluations for children under 5 years old would not lead to the same amount of emphasis being put on epidemiological and economic evidence during decision-making as is currently found in decisions on interventions aimed at older children and adults.

In addition to these findings, all interviewees expressed the importance of taking current challenges and ethical considerations into account during the decision-making process. Across all disciplines and levels of expertise in childcare, it was unanimous that the evaluation of interventions for young children such as NBS requires a specific approach.

Orphan Drugs

FDA: Ten new market authorisations with orphan designation granted in June 2024

In June, the FDA accorded market authorisation to the following medicinal products with an orphan designation:

Blincyto, for the treatment of CD19-positive Philadelphia chromosome-negative B-cell precursor acute lymphoblastic leukemia (ALL) in the consolidation phase of multiphase chemotherapy in adult and pediatric patients one month and older
Piasky, for the treatment of adult and pedicatric patients 13 years and older with paroxysmal nocturnal hemoglobinuria (PNH) and body weight of at least 40kg
Elevidys, for the treatment of Duchenne muscular dystrophy (DMD) in individuals at least 4 years of age for patients who are ambulatory and have a confirmed mutation in the DMD gene, and for patients who are non-ambulatory and have a confirmed mutation in the DMD gene
Vyvgart Hytrulo, for the treatment of adult patients with chronic inflammatory demyelinating polyneuropathy (CIDP)
Iqirvo, for the treatment of primary biliary cholangitis (PBC) in combination with ursodeoxycholic acid (UDCA) in adults who have had an inadequate response to UDCA, or as monotherapy in patients unable to tolerate UDCA
Epkinly, for the treatment of adult patients with relapsed or refractory follicular lymphoma (FL) after two or more lines of systemic therapy
Rytelo, for the treatment of adult patients with low- to intermediate-1 risk myelodysplastic syndromes (MDS) with transfusion-dependent anemia requiring 4 or more red blood cell units over 8 weeks who have not responded to or have lost response to or are ineligible for erythropoiesis-stimulating agents (ESA)
Wakix, for the treatment of excessive daytime sleepiness (EDS) in adult patients and in pediatric patients 6 years of age and older with narcolepsy
Augtyro, for the treatment of adult and pediatric patients 12 years of age and older with solid tumors that have a neurotrophic tyrosine receptor kinase (NTRK) gene fusion, are locally advanced or metastatic or where surgical resection is likely to result in severe morbidity, and have progressed following treatment or have no satisfactory alternative therapy
Vigafyde, as monotherapy for the treatment of infantile spasms in pediatric patients 1 month to 2 years of age for whom the potential benefits outweigh the potential risk of vision loss

Quality of Care

Diagnostic utility of Whole Genome Sequencing in Latin America: Results from a cohort study in Colombia

A new article has been published in the European Journal of Human Genetics describing work to determine the clinical and diagnostic utility of whole genome sequencing (WGS) for rare disease diagnosis in Latin America. Previous work in this area has been extremely limited, with only a few projects investigating the use of WGS in the region. Efforts to generate knowledge are also restricted by the limited implementation of genomic technologies in Latin American countries, largely due to resource constraints.

In an attempt to narrow this gap, researchers performed WGS on a cohort of 501 patients from Colombia with a suspected rare disease. A total of 142 patients received a diagnosis, translating to a 28.3% diagnostic yield. This is within the known range reported in other studies on WGS for rare diseases. Additionally, 1 in 5 participants who had previously undergone inconclusive exome sequencing (ES) received a diagnosis, indicating the added value of WGS.

In addition to their findings on the utility of WGS, the authors also gathered quantitative information about the diagnostic odyssey in Colombia. Among the study cohort, the median time to diagnosis was 1 year for children, and 15 years for adults. Generally speaking, patients with genetic syndromes had or have spent more than 75% of their life without a diagnosis. Previous testing, in particular karyotyping or chromosomal microarray, were also associated with a longer time to diagnosis.

The data collected in this study demonstrates both that people living with a rare disease in Colombia experience a lengthy diagnostic odyssey, and that WGS is an important tool to help achieve more timely diagnosis. Adding to the importance of these findings is that this is the first Latin American study to report the experience of the systematic use of WGS for RD diagnosis. Based on their conclusions, the authors call for further research and political action to support the implementation of WGS as the preferred testing method for RD diagnosis in the region.

Screening and Prenatal Diagnosis

Establishing minimal data elements for long-term follow-up of newborn screening

A recent article published in the International Journal of Neonatal Screening aims to define the minimal long-term follow-up (LTFU) data elements for newborn screening (NBS), in hopes of providing a foundation for interventions which address the impacts of early diagnosis.

There is a lack of information about the long-term outcomes of infants who obtain a positive NBS result. Historically, efforts to gather LTFU data have been inconsistent and have lacked momentum. This information gap is problematic as it makes it difficult to ascertain the actual benefits of NBS programs and maximise their public health benefit.

In this study, six NBS programs in the United States developed and tested a core set of minimal NBS LTFU data elements across a number of disorders and jurisdictions. Ultimately, they agreed on a set of five minimal elements to be collected during LTFU. Two of these are combined to form the denominator: the number of children diagnosed through NBS; and the number of children who had died or moved their care out of the jurisdiction before the year being reported. The remaining three elements were designed to capture the potential benefits of NBS. They are: if a child is still alive; if a child had contact with a specialist for their disorder within the last 12 months; and if the child received appropriate care specific to their diagnosis within the last 12 months.

While the authors recognise that these minimal LTFU data elements are not sufficient to fully understand the impact of NBS on public health, they argue that they are an important starting point to ensure that children receive appropriate care and follow-up after diagnosis. Collecting data in this way will better equip public health systems to identify and address barriers to accessing follow-up care, and will allow for a deeper understanding of the benefits of NBS.

International News

European News

Health Economics

Orphan Drugs

Quality of Care

Screening and Prenatal Diagnosis

Bioinformatics and Biotechnology

Summary of the edition of 16 August 2024

Editorial

Political news

Scientific news

And also...

International News

Recommended research priorities from the IRDiRC Diagnostics Scientific Committee

Readiness assessment for expanding newborn bloodspot screening in Australia: Executive summary available

Advancing rare disease research in the United States through collaboration: Work of the NCATS Division of Rare Diseases Research Innovation

USA: NORD holds annual Living Rare Forum and Rare Impact Awards

Critical Path Institute and Sanford Health sign data-sharing agreement

New Zealand: RDNZ issues call for expressions of interest in new Clinical Advisory Panel

European News

Health policy following the 2024 EU elections and the future of rare disease advocacy

From TEHDAS to TEHDAS2: Promoting secondary usage of health data

New EU guidance on clinical evaluation of orphan medical devices published

Black Pearl Awards 2025: Nominations open!

Innov4-ePiK: French stakeholders join forces revolutionise care for epileptic and developmental encephalopathies

Enpr-EMA survey on cross-border clinical trial access for paediatric patients

Participate in the EJP RD survey

Complete the Rare Barometer survey on rare diseases and social participation!

EATRIS survey on ACT-EU

The OrphaDev4Kids project kicks off

Health Economics

Maximising rare disease research and investment returns through economic spillovers

Decision-making processes for economic evaluation of newborn screening programmes: A case study of Quebec

Orphan Drugs

EMA: Two new positive opinions on market authorisation with an orphan designation in June 2024

EMA: Fourteen positive opinions on orphan designation accorded by the COMP in June 2024

FDA: Ten new market authorisations with orphan designation granted in June 2024

FDA: Twenty-one new orphan designations approved in June 2024

Quality of Care

Patient experiences accessing rare disease care during the COVID-19 pandemic: Results from a UK survey

Diagnostic utility of Whole Genome Sequencing in Latin America: Results from a cohort study in Colombia

Screening and Prenatal Diagnosis

Establishing minimal data elements for long-term follow-up of newborn screening

Newborn screening in Latin America: Current landscape and future directions

Ethical, Legal and Social

RERCOR: A multilingual platform to support translation of rare disease texts

Bioinformatics and Biotechnology

RDMM-Europe: A Solve-RD platform for functional validation of disease genes

PheIndex: An algorithm to identify patients aged 0-3 with potential genetic disorders

Summary of the edition of 16 August 2024

Editorial

Political news

Scientific news

And also...