Edition of 18 June 2024

International News

RDI calls for a WHA Resolution on Rare Diseases at side event to 77th World Health Assembly

On 29 May 2024, Rare Diseases International (RDI) organised a side event to the 77^th World Health Assembly (WHA) on the topic of “Why Invest in Rare Diseases?”. Co-hosted by France, Malaysia, Egypt, and Ghana, this event aimed to emphasise the importance of investing in rare diseases to attain true universal health care (UHC), and to serve as a platform to advocate for a WHA resolution on rare diseases in 2025.

The side event engaged a range of stakeholders, including policy makers, global health organisations, patient advocates, and private sector representatives, in a conversation about different policy-driven approaches to improving health care access for people living with a rare disease (PLWRD). Following keynote addresses from representatives from the WHO and the French, Malaysian, and Egyptian Ministries of Health, two panel discussions were held: “Global Policy and UHC for PLWRD,” and “Regional and National Approaches and Collaborative Solutions.”

In closing remarks, RDI’s CEO Alexandra Heumber Perry issued a call to action for an official WHA Resolution on Rare Diseases:

“Rare Diseases are not rare in their collective impact. Millions of individuals and families around the world are affected. We have a moral duty to bring their voices to the forefront of global health discussions and global health policy. We stand at the cusp of a significant change, and the discussion and ideas that were shared today here must now translate into concrete actions that reflect our commitment to this shift.”

If the WHO adopts such a Resolution at next year’s WHA, they would be solidifying the position of rare diseases on the global health policy agenda, and building a framework for a transnational, coordinated approach to a complex public health issue which often requires extensive cross-border cooperation. This would also send a message to Member States about the importance of addressing the social and financial burdens of treating PLWRD in a sustainable and inclusive way. By heeding this call to action, the WHO can help ensure that the 300 million PLWRD worldwide are not left behind in the work on UHC.

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US: NORD appoints Pamela K. Gavin as new CEO

On 1^st May 2024, the United States’ National Organization for Rare Disorders (NORD) named Pamela K. Gavin as their new CEO effective immediately, following the retirement of former President and CEO Peter L. Saltonstall. Following the transition period, Saltonstall will continue to support NORD in an advisory role.

Prior to her appointment as CEO, Gavin held the position of NORD Chief Operating Officer for the past 12 years. In this capacity, she played a leading role in the development and launch of initiatives such as the NORD Rare Disease Centers of Excellence network and the Rare Diseases Cures Accelerator, a data and analytics platform resulting from a collaboration with the FDA and the Critical Path Institute. Before joining NORD, she held a number of positions focused on improving healthcare safety and delivery in both the public and private sectors.

Pamela Gavin named CEO of the National Organization for Rare Disorders; courtesy: National Organization of Rare Disorders

Gavin is recognised by her colleagues at NORD as a fierce patient advocate and visionary thinker, with the ability to transform the lives of the rare disease community by reimagine possibilities and turning her vision into a reality. When asked what she would like the rare disease community to know about her as a leader, she said:

“I’d…like the community to know that everyone at NORD…is working vigorously every day on their behalf. The challenges our community face are immense and complex. Nonetheless, I’m ready to take them on and be a collaborative partner in solving them.”

This change in leadership is only the second such transition in NORD’s 41-year history. Saltonstall served as CEO for 16 years, assuming the position after the retirement of founding president Abbey Meyers. His leadership transformed NORD from a grassroots organisation to an internationally recognised non-profit, and led to close relationships with important actors such as the NIH, FDA, and EURORDIS. It is clear that under Gavin’s tenure, NORD will continue to grow and expand their positive influence on the lives of the US’s rare disease community.

European News

Enhancing rare disease care in Germany: Patient experiences of interprofessional collaboration

A new article has been published in the Orphanet Journal of Rare Diseases, which explores the experiences of patients living with a rare disease in Germany with interprofessional collaboration and communication. Due to the complexity of the majority of rare diseases, people living with one typically see multiple generalist and specialist practitioners. As such, collaboration and information exchange between these professionals is critical to achieving comprehensive, well-coordinated care. This study aimed to investigate the experiences and satisfaction of patients and caregivers with rare disease care in Germany, with a particular focus on how local healthcare professionals and expert centres work in collaboration.

To that end, researchers collected responses from 299 participants through a combination of online questionnaires and semi-structured interviews. Overall, both patients and caregivers reported being mainly satisfied with their care, however interviews also revealed experiences of uncoordinated care, low engagement and communication difficulties between professionals of different sectors. The authors also identified an inadequate amount of attention paid to the psychosocial aspects of rare diseases during routine care.

Based on these findings, the authors concluded that significant gaps exist in rare disease care in Germany. In particular, there is a need to better address the psychosocial support needs of both patients and caregivers. Furthermore, they recommend that intersectoral collaboration move beyond written information exchange, in order to shift the burden of facilitating communication between care providers away from patients. Finally, the authors highlight the importance of transferring patients with rare diseases to specialised care as quickly as possible in order to optimise the quality of their care and increase patient satisfaction.

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Health Economics

HTA criteria for orphan drugs: Differing approaches based on models of public healthcare

Recently, a scoping review was published in the journal Health Policy which explores the types of criteria which are adopted in different models of public healthcare systems when performing an economic analysis of orphan drugs (ODs).

Health technology assessment (HTA) is a process undertaken following regulatory approval of medicines which determines the level of reimbursement to be provided by the relevant government or private sector payer(s). It typically uses a cost-benefit analysis approach to determine the value of a treatment based on its effectiveness. However, performing HTA on ODs often requires the use of alternate criteria, due to high development costs and a lack of robust clinical evidence.

In this study, the authors examined existing literature on the criteria used by HTA agencies in countries with a public healthcare system. They collected data on 19 separate countries, using three distinct models of healthcare systems: National Health System (NHS), National Health Insurance (NHI) and Social Health Insurance (SHI).

While all models shared concerns about unmet needs and disease nature (i.e. rarity), they prioritised different types of criteria for OD HTAs. NHS countries were found to place more emphasis on innovation and system-level impact, while SHI countries typically prioritised budget impact and were more likely to employ accelerated review processes. NHI countries were under-represented in the study and as such no definitive conclusions were drawn as to their approaches to OD evaluation.

Overall, this study provides new insights on how different models of public healthcare impact the economic analysis of ODs, and the need for additional evidence and investment in this field of rare disease research.

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Orphan Drugs

FDA: New market authorisations granted in April and May 2024

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

Alecensa, as adjuvant treatment in adult patients following tumor resection of anaplastic lymphoma kinase (ALK)-positive non-small cell lung cancer (NSCLC) (tumors greater than or equal to 4 cm or node positive), as detected by an FDA-approved test
Vijoice, for treatment of adult and pediatric patients 2 years of age and older with severe manifestations of PIK3CA-Related Overgrowth Spectrum (PROS) who require systemic therapy
Carvykti, for treatment of adult patients with relapsed or refractory multiple myeloma, who have received at least 1 prior line of therapy, including a proteasome inhibitor and an immunomodulatory agent, and are refractory to lenalidomide
Libervant, for acute treatment of intermittent, stereotypic episodes of frequent seizure activity (i.e., seizure clusters, acute repetitive seizures) that are distinct from a patient's usual seizure pattern in patients with epilepsy 2 to 5 years of age
Beqvez, for treatment of adults with moderate to severe hemophilia B (congenital factor IX deficiency) who: Currently use factor IX prophylaxis therapy, or; Have current or historical life-threatening hemorrhage, or; Have repeated, serious spontaneous bleeding episodes, and; Do not have neutralizing antibodies to adeno-associated virus serotype Rh74var (AAVRh74var) capsid as detected by an FDA-approved test
Xromi, to reduce the frequency of painful crises and reduce the need for blood transfusions in pediatric patients aged 6 months of age to less than 2 years, with sickle cell anemia with recurrent moderate to severe painful crises
Abecma, for treatment of adult patients with relapsed or refractory multiple myeloma after two or more prior lines of therapy including an immunomodulatory agent, a proteasome inhibitor, and an anti-CD38 monoclonal antibody
Lutathera, for treatment of adult and pediatric patients 12 years and older with somatostatin receptor-positive gastroenteropancreatic neuroendocrine tumors (GEP-NETs), including foregut, midgut, and hindgut neuroendocrine tumors
Xolremdi, to increase the number of circulating mature neutrophils and lymphocytes in patients 12 years of age and older with WHIM syndrome (warts, hypogammaglobulinemia, infections and myelokathexis)
Ojemda, for treatment of patients 6 months of age and older with relapsed or refractory pediatric low-grade glioma (LGG) harboring a BRAF fusion or rearrangement, or BRAF V600 mutation
Rinvoq, for treatment of patients 2 years of age and older with active polyarticular juvenile idiopathic arthritis who have had an inadequate response or intolerance to one or more tumor necrosis factor (TNF) blockers.
Ingrezza, for treatment of adults with chorea associated with Huntington's disease

In May, additional market authorisations were accorded to the following medicinal products with an orphan designation:

Breyanzi, for treatment of adult patients with relapsed or refractory follicular lymphoma (FL) who have received 2 or more prior lines of systemic therapy
Breyanzi, for treatment of adult patients with relapsed or refractory mantle cell lymphoma (MCL) who have received at least 2 prior lines of systemic therapy, including a Bruton tyrosine kinase (BTK) inhibitor
Retevmo, for treatment of adult and pediatric patients 2 years of age and older with locally advanced or metastatic solid tumors with a RET gene fusion, as detected by an FDA-approved test, that have progressed on or following prior systemic treatment or who have no satisfactory alternative treatment options
Retevmo, for treatment of adult and pediatric patients 2 years of age and older with advanced or metastatic medullary thyroid cancer (MTC) with a RET mutation, as detected by an FDA-approved test, who require systemic therapy; and treatment of adult and pediatric patients 2 years of age and older with advanced or metastatic thyroid cancer with a RET gene fusion, as detected by an FDA-approved test, who require systemic therapy and who are radioactive iodine-refractory (if radioactive iodine is appropriate)
Imdelltra, for treatment of adult patients with extensive stage small cell lung cancer (ES-SCLC) with disease progression on or after platinum-based chemotherapy

FDA: New orphan designations approved in April and May 2024

In April, the FDA granted orphan designations for the following indications:

Treatment of Legg-Calve-Perthes Disease (LCPD)
Treatment of pouchitis
Treatment of mhenylketonuria
Treatment of soft tissue sarcoma
Treatment of Angelman syndrome
Treatment of Alport Syndrome
Treatment of adenoid cystic carcinoma
Treatment of pancreatic cancer
Treatment of acute myeloid leukemia
Treatment of esophageal cancer
Treatment of myasthenia gravis
Treatment of Danon disease (DD)
Treatment of acute myeloid leukemia (AML)
Treatment of prosthetic joint infection
Treatment of Prader-Willi syndrome
Treatment of Duchenne muscular dystrophy (DMD)
Treatment of esophageal cancer
Treatment of pancreatic cancer
Treatment to enhance cell engraftment and immune reconstitution in patients receiving hematopoietic stem cell transplant
Treatment of multiple system atrophy (MSA)
Treatment of Neuroblastoma
Treatment of acute myeloid leukemia
Treatment of endogenous Cushing's syndrome excluding Cushing's disease
Treatment of Bietti crystalline corneoretinal dystrophy
Treatment of follicular lymphoma (FL)
Treatment of hepatocellular carcinoma
Treatment of acute myeloid leukemia (AML)
Treatment of mucopolysaccharidosis type I
Treatment of Duchenne muscular dystrophy
Treatment of Primary Sclerosing Cholangitis
Prevention (which includes post-exposure prophylaxis) against Marburg marburgvirus infection
Prevention (which includes post-exposure prophylaxis) against Sudan Ebola Virus (SUDV) infection
Treatment of pancreatic cancer
Prevention of thromboembolism and thrombosis in patients with an implanted mechanical circulatory support device (left ventricular assist device, right ventricular assist device, biventricular assist device, total artificial heart)
Treatment of patients with confirmed ABCA4 gene mutation-associated inherited retinal dystrophy (IRD)

In May, the FDA additionally granted orphan designations for the following indications:

Treatment of neonatal hypoxic-ischemic encephalopathy
Treatment of fragile X syndrome
Treatment of idiopathic pulmonary fibrosis
Treatment of pancreatic cancer
Treatment of osteogenesis imperfecta
Treatment of hemophilia B
Treatment of pancreatic cancer
Treatment of T-cell lymphoma
Treatment of pancreatic cancer
Treatment of sickle cell disease and its complications including pain; acute chest syndrome; vasculopathy; pulmonary hypertension; mitochondrial dysfunction; oxidative stress; leg ulcers; priapism; consequences of arginine deficiency
Treatment of idiopathic pulmonary fibrosis
Treatment of amyotrophic lateral sclerosis
Treatment of OPA1 mutation-associated autosomal dominant optic atrophy
Treatment of Fabry disease
Treatment of malignant glioma
Treatment of Rett syndrome
Treatment of membranous nephropathy
Treatment of idiopathic pulmonary fibrosis

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Quality of Care

Screening and Prenatal Diagnosis

Genomic NBS for inherited metabolic disorders: An IRDiRC analysis

Recently, the International Rare Diseases Research Consortium (IRDiRC) published a study in Rare Disease and Orphan Drugs Journal exploring the use of genomics in newborn screening (NBS) for inherited metabolic disorders (IMDs). Based on their analysis, the authors make recommendations for how best to integrate genomics into conventional NBS practices in order to improve the early diagnosis and long-term outcomes of individuals with an IMD.

NBS is a critical tool for many rare diseases, including IMDs, as it enables early intervention which can drastically improve health outcomes and minimise long-term complications in diseases for which there are available treatments. However, current NBS protocols only cover a small fraction of known IMDs. In recent years, advances in next-generation sequencing (NGS) have led to the discovery of many novel IMDs even in the absence of biomarkers typically detected by NBS. However, these advances have yet to be integrated into NBS protocols, leaving early detection of many of these conditions extremely difficult.

In this study, the authors analysed the current state of conventional NBS for IMDs in Spain, the Netherlands, and Italy. Additionally, they identified IMDs without biomarkers detectable through conventional methodologies which are good candidates for using NGS as a first-tier test. Based on this analysis, they propose two potential pathways to integrating NGS into current NBS protocols.

The first proposed pathway is a progressive transition, in which NGS and metabolomics approaches are employed in parallel, with genomic analysis available as a second-tier test when biochemical analysis returns abnormal results. This approach could increase the sensitivity of screening, allowing more newborns with an IMD to be identified while also decreasing the number of false positives. The second pathway would see genomics implemented as a first-tier test, with metabolomics used for diagnostic confirmation.

While each approach poses challenges to clinicians and regulators alike, the recent advances in NGS technology make it possible to expand the scope of current NBS and our ability to detect IMDs as early as possible. No matter the path chosen, the potential use of genomics in NBS brings up ethical, psychological, and social issues which must be fully explored before implementation.

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Ethical, Legal and Social

Overcoming barriers to diverse participation in clinical trials: Evidence from Duchenne muscular dystrophy

A new article published in the Orphanet Journal of Rare Diseases explores the barriers faced by diverse populations in the United States when trying to participate in clinical trials for Duchenne muscular dystrophy (DMD).

In recent years, an increasing awareness has developed of the importance of diversity and representation in clinical trials. Different social, cultural, and biological factors which are influenced by an individual’s background can influence experiences of disease and treatment responses. However, racial and ethnic minorities continue to be underrepresented, particularly in rare disease trials, where small patient populations make recruiting participants more difficult from the beginning. This is the case for DMD in the US, where Hispanic and/or Latino individuals are underrepresented despite having a potentially higher prevalence of disease than other groups.

In order to understand the barriers faced by Hispanic/Latino families when trying to participate in trials, and thus hopefully better understand how to overcome them, researchers conducted a series of interviews with Hispanic/Latino caregivers of children with DMD, as well as health professionals within the broader US DMD community.

Following a thematic analysis of the interviews, barriers to clinical trial participation were identified at multiple stages of the enrolment process. These included a lack of awareness about ongoing trials; anticipated non-compliance in trial protocols; language discrimination; logistical factors (distance, time, money); and a lack of translated study materials.

The results of this study demonstrate the numerous and varied barriers Hispanic/Latino families and other diverse populations may face which prevent them from participating in clinical trials. In order to enhance participation opportunities and improve trial diversity, the authors recommend measures such as developing clinical trial decision support tools, translating prominent educational resources, fostering trusting relationships between families and providers, engaging families in clinical trial design, and establishing ethical guidelines for pre-screening potentially non-compliant patients.

While these recommendations are based on findings from Hispanic/Latino families affected by DMD, they could also provide a starting point for future research on barriers to clinical trial participation in other minority groups and/or diseases. By continuing to conduct research in this field, and by implementing the recommendations presented in this paper, clinical trials will be able to have more diverse participant groups which are more representative of the actual population. This in turn will allow for the development of treatments which adequately meet the needs of all individuals living with a specific rare disease and their families.

International News

European News

Health Economics

Orphan Drugs

Quality of Care

Screening and Prenatal Diagnosis

Quality of Life

Registries and Biobanks

Data Management

Bioinformatics and Biotechnology

Summary of the edition of 18 June 2024

Editorial

Political news

Scientific news

And also...

International News

RDI calls for a WHA Resolution on Rare Diseases at side event to 77th World Health Assembly

Australia: Rare Care Centre 2023-24 impact report now available

Rare Disease Moonshot Australia: Accelerating therapy development through partnerships

Australia: Launch of the Lyfe Languages Universal Medical Translator

US: NORD appoints Pamela K. Gavin as new CEO

Canada: Nomination call to join CORD's Board of Directors

Canada: Petition for a rare disease strategy in Ontario & launch of the first MPS and PKU patient registries

TREAT-NMD 2022-2023 impact report

European News

Apply to join the EURORDIS Digital & Data Advisory Group

New members appointed to EURORDIS Board of Directors

Third EJP RD MOOC on Health Data Ethics & Regulatory Frameworks

Screen4Care: Recap of the consortium's second in-person meeting

Enhancing rare disease care in Germany: Patient experiences of interprofessional collaboration

Health Economics

HTA criteria for orphan drugs: Differing approaches based on models of public healthcare

Orphan Drugs

EMA: New positive opinions on market authorisation with an orphan designation in April and May 2024

EMA: New positive opinions for orphan designation accorded by the COMP in April and May 2024

FDA: New market authorisations granted in April and May 2024

FDA: New orphan designations approved in April and May 2024

Quality of Care

Rethinking educational and therapeutic programs for allogenic transplantation in Poland

Screening and Prenatal Diagnosis

Genomic NBS for inherited metabolic disorders: An IRDiRC analysis

Ethical, Legal and Social

Overcoming barriers to diverse participation in clinical trials: Evidence from Duchenne muscular dystrophy

Addressing stigma in rare diseases

Quality of Life

Quality of life and economic burden in Fabry disease

Registries and Biobanks

Best practices for quality rare disease registries

Data Management

Project SATURN: Developing a core dataset to improve access to new therapies

Bioinformatics and Biotechnology

New partnership to develop gene therapy technology for Ataxia Charlevoix-Saguenay

Mining electronic health record data to detect undiagnosed genetic disease: A proof-of-concept study

Summary of the edition of 18 June 2024

Editorial

Political news

Scientific news

And also...