Edition of 08 July 2025

International News

Reflecting on 15 years of work to improve health equity for Aboriginals living with a rare disease in Western Australia

A new article has been published in the journal Rare, which describes national-level efforts to improve health equity for Aboriginal people living with a rare disease in Australia. The article focuses specifically on coordinated approaches to improve rare disease diagnosis and care for Aboriginal people living in Western Australia (WA).

Rare diseases represent a significant public health challenge, with people living with a rare disease (PLWRD) facing barriers to accessing healthcare and experiencing significant health disparities compared to the general public. However, these issues are often exacerbated for minority groups, such as Indigenous peoples. In Australia, there are an estimated 50,000 Aboriginal PLWRD who therefore stand to benefit from targeted public health interventions.

Over the past 15 years, a number of innovations and projects have been conducted in WA with the goal of improving the lives of Aboriginals living with a rare disease and their families. While such efforts have been wide-ranging in terms of scope, the authors identified several core themes. These include patient engagement and cultural safety; interventions to improve Indigenous rare diseases diagnosis and care; partnering with national and international initiatives; and moving beyond diagnosis to patient care.

Overall, the authors highlight the importance of collaboration between key rare disease stakeholders in WA, national and international partners, community members and Aboriginal community-controlled health organisations to create interventions which effectively enhance the care of Aboriginal PLWRD and their families. They also identify strategy development which is grounded in Aboriginal priorities, engaging with communities and resourcing Aboriginal-led programs and staff as key elements for culturally safe provision of care.

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European News

Screen4Care publishes TREAT genomic NBS panel

The Screen4Care project has published major findings from their work to shorten the time to diagnosis for rare diseases (RD) in the Orphanet Journal of Rare Diseases. The product of this work, the TREAT panel, is a list of genes proposed for use in genomic newborn screening (gNBS). It aims to identify conditions in newborns which are not detectable through standard biochemical tests, but which are treatable if diagnosed early.

The final published version of the TREAT panel includes 245 genes which code for a wide range of disorders. The largest group of these genes code for metabolic disorders, while others code for haematological disorders, endocrine conditions, neuromuscular diseases, and more.

In order to determine the real-world feasibility of TREAT, the panel is currently being tested in a pilot project involving approximately 18,000 newborns across Europe. The findings from this pilot will contribute to the growing body of evidence for the implementation of gNBS in screening programmes, ideally leading to faster diagnoses and improved outcomes for newborns with a genetic rare disease. More details about the pilot and participation eligibility are available on Screen4Care’s website.

Screen4Care was established in 2021 as a public-private-patient consortium, and takes an innovative approach to accelerating rare disease diagnosis through research. The five-year project explores how both gNBS and digital technologies can be leveraged to shorten the diagnostic odyssey, and ensure people living with a rare disease can achieve timely access to treatment and care. It is funded under the Innovative Medicines Initiative 2 Joint Undertaking, which receives support from the EU’s Horizon 2020 programme and the European Federation of Pharmaceutical Industries and Associations (EFPIA).

ELIXIR releases new international strategy and strategic documents

ELIXIR recently published an updated version of their international strategy, which outlines how the organisation will work with international initiatives and partner regions to address life science data challenges at a global scale. It replaces the previous strategy published in 2019, bringing it into alignment with ELIXIR’s Scientific Programme for 2024-2028. The new strategy has three core objectives:

Increase awareness of how ELIXIR’s flagship resources enable and support research communities internationally
Enhance ELIXIR’s services through strategic collaborations with international bioinformatics-related initiatives and organisations
Reinforce ELIXIR’s global impact by collaboratively shaping international open science and open data policy developments

In addition to updating their international strategy, ELIXIR has also released strategy documents for two of the scientific priority areas defined in the 2024-2028 Programme: cellular and molecular research, and biodiversity, food security and pathogens.

ELIXIR is an intergovernmental organisation which brings together life science resources from across Europe, such as databases, software tools, training materials, and supercomputers. Following the publication of the above strategic documents, the organisation published a position paper which expands upon the importance of open science for facilitating European competitiveness, and for the sustainability of key life sciences biodata resources. For more information on safeguarding such resources, the Global Biodata Coalition recently published a blog post which explores how to navigate complex funding landscapes, particularly in the context of recent budget cuts in the United States, in order to protect critical biodata tools.

Health Economics

Orphan Drugs

FDA: New market authorisations with orphan designation granted in April and May 2025

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

Vyvgart Hytrulo, for the treatment of adult patients with generalized myasthenia gravis (gMG) who are anti-acetylcholine receptor (AChR) antibody positive
Vyvgart Hytrulo, for the treatment of adult patients with chronic inflammatory demyelinating polyneuropathy (CIDP)
Imaavy, for the treatment of generalized myasthenia gravis (gMG) in adult and pediatric patients 12 years of age and older who are anti-acetylcholine receptor (AChR) or anti-muscle-specific tyrosine kinase (MuSK) antibody positive
Opdivo, in combination with ipilimumab, for the first-line treatment of adult patients with unresectable or metastatic hepatocellular carcinoma (HCC)
Isturisa, for the treatment of endogenous hypercortisolemia in adults with Cushing's syndrome for whom surgery is not an option or has not been curative
Penpulimab-kcqx, in combination with either cisplatin or carboplatin and gemcitabine, for the first-line treatment of adults with recurrent or metastatic non-keratinizing nasopharyngeal carcinoma (NPC); and as a single agent, for the treatment of adults with metastatic non-keratinizing NPC and disease progression on or after platinum-based chemotherapy and at least one other prior line of therapy
Zevaskyn, for the treatment of wounds in adult and pediatric patients with recessive dystrophic epidermolysis bullosa (RDEB)
Rinvoq, for the treatment of adults with giant cell arteritis

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

Avmapki Fakzynja Co-Pack, for the treatment of adult patients with KRAS-mutated recurrent low-grade serous ovarian cancer (LGSOC) who have received prior systemic therapy
Khindivi, as replacement therapy in pediatric patients 5 years of age and older with adrenocortical insufficiency
Zynyz, in combination with carboplatin and paclitaxel, for the first-line treatment of adult patients with inoperable locally recurrent or metastatic squamous cell carcinoma of the anal canal (SCAC); and as a single agent, for the treatment of adult patients with locally recurrent or metastatic SCAC with disease progression on or intolerance to platinum-based chemotherapy

FDA: New orphan designations approved in April and May 2025

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

Treatment of AIPL1 gene mutations asociated retinal dystrophy
Treatment of mesothelioma
Treatment of malignant glioma
Treatment of Dravet syndrome
Treatment of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B)
Treatment of nasopharyngeal carcinoma
Treatment of follicular lymphoma
Treatment of Gaucher disease
Treatment of pericarditis
Treatment of aplastic anemia
Treatment of Ewing sarcoma
Treatment of soft tissue sarcoma
Treatment of malignant glioma
Treatment of whipworm infection caused by Trichuris trichiura
Treatment of Marfan syndrome
Treatment of malignant glioma
Treatment of malignant glioma
Treatment of alpha-1 antitrypsin deficiency
Treatment of amyotrophic lateral sclerosis
Treatment of mesothelioma
Treatment of Phelan-McDermid syndrome
Treatment of retinitis pigmentosa
Treatment of esophageal cancer
Treatment of Chronic Myelogenous Lekemia
Treatment of extranodal marginal zone lymphoma
Treatment of splenic marginal zone lymphoma
Treatment of nodal marginal zone lymphoma
Treatment of idiopathic pulmonary fibrosis
Treatment of Bernard-Soulier syndrome (BSS)
Treatment of multiple myeloma
Treatment of malignant glioma
Treatment of congenital long QT syndrome
Treatment of spastic paraplegia type 49
Treatment of antibody mediated rejection in solid organ transplantation
Treatment of immunoglobulin G4-related disease (IgG4-RD)
Treatment of eosinophilic granulomatosis with polyangitis
Treatment of pyoderma gangrenosum
Treatment of tuberculosis
Treatment of Bernard-Soulier syndrome

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

Prevention of T-cell engager (TCE) bispecific antibody (BsAbs) induced cytokine release syndrome (CRS)
Treatment of mesothelioma
Treatment of Alport syndrome
Treatment of alpha-1 antitrypsin deficiency
Treatment of spinocerebellar ataxia (SCA)
Treatment of pancreatic cancer
Treatment of hereditary punctate palmoplantar keratoderma
Treatment of multiple myeloma
Treatment of pancreatic cancer
Treatment of sickle cell disease
Treatment of spinocerebellar ataxia
Prevention of necrotizing enterocolitis (NEC) in infants gestational age <34 weeks and/or very low birth weight (<1,500 grams) infants
Treatment of dermatomyositis
Diagnostic for the management of esophageal cancer
Treatment of Duchenne muscular dystrophy
Treatment of congenital adrenal hyperplasia (CAH)
Treatment of T-cell lymphoma
Treatment of homozygous familial hypercholesterolemia (HoFH)
Treatment of Duchenne muscular dystrophy
Treatment of carcinoid syndrome
Treatment of trimethylaminuria
Treatment of hepatocellular carcinoma
Treatment of branched-chain 2-ketoacid dehydrogenase (BCKDH) deficiency (maple syrup urine disease)
Treatment of retinitis pigmentosa
Treatment of multiple myeloma
Treatment of acute lymphoblastic leukemia (ALL)
Treatment of T-cell lymphoma
Treatment of progressive supranuclear palsy
Treatment of respiratory infection in patients with cystic fibrosis

International News

European News

Health Economics

Orphan Drugs

Quality of Care

Quality of Life

Study Design

Bioinformatics and Biotechnology

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International News

Version 1.0 of the TREAT-NMD sNMD Dataset now available

Reflecting on 15 years of work to improve health equity for Aboriginals living with a rare disease in Western Australia

European News

European hearing informs rare disease research and policy activities

ERDERA survey on patient involvement in research

New EMA & HMA joint workplan on data and AI in medicines regulation

Screen4Care publishes TREAT genomic NBS panel

ELIXIR releases new international strategy and strategic documents

New Solve-RD findings on approaches to solving undiagnosed rare disease cases

Apply for the HTA Regulation capacity-building programme

Recent events at the European level

Health Economics

Understanding the cost of the diagnostic odyssey for rare diseases: Findings from Germany

Orphan Drugs

Making rare disease clinical trials more accessible: Current barriers and recommendations

EMA: New market authorisations with an orphan designation in April and May 2025

EMA: New orphan designations accorded by the COMP in April and May 2025

FDA: New market authorisations with orphan designation granted in April and May 2025

FDA: New orphan designations approved in April and May 2025

Quality of Care

Post-diagnosis needs of parents in rare disease families: Findings from Japan's Initiative on Undiagnosed and Rare Diseases

Ethical, Legal and Social

Uncovering the link between rare diseases and work outcomes

Quality of Life

Non-professional caregiving, health-related quality of life and productivity: Real-world findings

Study Design

EJP RD findings on addressing methodological issues in rare disease clinical trials

Bioinformatics and Biotechnology

Using new technologies to link rare diseases with common ones

More to Explore (NEW)

Introducing: More to Explore!

Summary of the edition of 08 July 2025

Editorial

Political news

Scientific news

And also...