Home Author
Author

informer

Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey

by informer

Photo credits: pixabay.com

Rare and complex diseases can have a significant impact on family life, and managing the reproductive aspects of patients of childbearing age with rare diseases is often difficult and complex.A European Reference Network (ERN) Transversal Working Group (WG) on Pregnancy and Family Planning was created to join forces to promote and address issues on these topics in rare and low-prevalence diseases.

The study aimed to outline challenges and best practices in pregnancy and family planning for healthcare professionals (HCPs) managing rare and complex diseases. A survey on current practices and unmet needs was developed by a co-design group of clinicians and patient representatives from 20 ERNs. It was uploaded in English on the “EU Survey” platform and distributed through ERNs and learned societies. The survey covered seven key areas using closed and open-ended questions: fertility preservation, pre-conceptional and family planning counselling, pre-implantation and prenatal diagnosis, pregnancy and post-pregnancy monitoring, lactation counselling, and newborn management. Questions addressed the level of importance, activities performed by centers, clinical challenges, good practices, and educational activities.

A total of 197 responses from 24 countries were analyzed. Unmet needs identified for HCPs included improving communication among professionals, establishing clear organizational pathways, increasing access to expert care for pregnancy-related issues, and standardizing care across countries. The survey also highlighted the need to enhance educational activities for rare disease patients. Physicians and patients must be educated on these unmet needs to ensure standardized information for both groups. Educational initiatives should be implemented to facilitate information dissemination.

Read the full article here.

Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey

by informer

Photo credits: pixabay.com

Bone strength is known to be reduced in various neuromuscular disorders (NMDs). In this study, the awareness and practice of bone strength management in NMDs among clinicians and patients were assessed. Two online surveys were conducted: one among health care providers (HCPs) of the European Reference Network for Neuromuscular Disorders (ERN EURO-NMD) and another among patients.

The survey of 52 HCPs indicated that awareness of potentially impaired bone strength in people with NMDs was reasonable to good. It was reported that bone fractures were often or almost always inquired about during history-taking (81%). However, bone strength was assessed less frequently, with evaluations being often or almost always performed at diagnosis (50%) and at follow-up (58%). Medical training on this topic was considered poor to very poor by 50% of HCPs. Prevention and treatment of reduced bone strength were found to be variable, and multidisciplinary care was deemed suboptimal.

The survey of 581 patients provided additional important insights. Many patients were followed up outside ERN EURO-NMD centers, and treatment approaches varied. These parallel surveys offered a broad perspective on the awareness and management of bone strength in individuals with NMDs. The findings are expected to enhance the recognition of this important aspect of NMD care and to guide future research priorities and care guidelines.

📖Read the full article here.

The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK

by informer

Photo credits: pixabay.com

The Rare Therapies Launchpad (RTLP) is a UK pilot program aimed at overcoming regulatory, economic, and commercial barriers to implementing individualized medicines for children with rare genetic diseases. Inspired by the first-ever personalized drug, milasen, developed in the U.S., the RTLP seeks to establish an infrastructure that ensures equitable access to life-saving treatments.

The initiative focuses on creating a new pathway for individualized medicines by defining key steps, responsibilities, and policy changes needed for sustainable adoption. It leverages whole-genome sequencing to identify potential treatments and aims to align stakeholders—including clinicians, the NHS, regulators, and industry—through shared accountability.

Given the challenges of traditional clinical trials for ultra-rare conditions, the RTLP promotes alternative regulatory models, such as real-world evidence collection and accredited treatment centers, to facilitate safe and scalable implementation. Additionally, it seeks innovative reimbursement strategies to make these therapies financially viable.

By transforming the approach to individualized medicine, the RTLP aims to bridge the gap between scientific advances and patient access, ensuring that children with rare diseases benefit from modern genetic technologies.

Read the full article here.

Myasthenia gravis in 2025: five new things and four hopes for the future

by informer

Photo credits: pixabay.com

The last 10 years has brought transformative developments in the effective treatment of myasthenia gravis (MG). Beginning with the randomized trial of thymectomy in myasthenia gravis that demonstrated efficacy of thymectomy in nonthymomatous MG, several new treatment approaches have completed successful clinical trials and regulatory launch. These modalities, including B cell depletion, complement inhibition, and blockade of the neonatal Fc receptor, are now in use, offering prospects of sustained remission and neuromuscular protection in what is a long-term disease.

This review updates the 2016 clinico-immunological review with recent advances, examines their role in treatment algorithms, and draws attention to key issues related to biomarkers for prognostication and the growing cohort of older patients, including those with long-term disease and late-onset MG (LOMG).

The review concludes by outlining four priorities for the next 5–10 years: advancements in laboratory medicine to facilitate rapid diagnosis, effective strategies for neuromuscular protection, further research into the pathophysiology and treatment response in older individuals, and the potentially transformative role of therapies aimed at achieving durable responses, such as chimeric antigen receptor (CAR) T cells.

A postscript summarizes emerging themes in serological and online biomarkers, which may gain greater significance in the future.

 Read the full article here.

‘It felt like finding hope only to lose it again’: A grounded theory study of rare cancer policies in Bulgaria

by informer

Photo credits: pixabay.com

Kostadin Kostadinov, Nina Musurlieva, Georgi Iskrov, and Rumen Stefanov, from the Medical University of Plovdiv (Faculty of Public Health, Environmental Health Division, Research Institute) and the Institute for Rare Diseases, have conducted a study on rare cancer policies in Bulgaria. This significant work has been published in the prestigious international journal Journal of Cancer Policy (Impact factor: 2.0).

Rare cancers, defined by an annual incidence of fewer than 6 per 100,000 cases, pose significant challenges due to their complexity, lack of expertise, and limited treatment options. In Bulgaria, these challenges are compounded by limited resources, fragmented care, and outdated policies. This study investigates policy stakeholders’ perspectives to identify gaps and propose policy alternatives for rare cancer care in Bulgaria, with implications for the broader European Union (EU) context.

A grounded theory qualitative research design was employed to explore stakeholder insights. Eight key stakeholders, including policymakers, healthcare providers, patient advocates, and pharmaceutical representatives, participated in semi-structured interviews. Data were analyzed through thematic coding to map policy gaps and develop viable alternatives.

Stakeholders highlighted significant gaps in funding, access to innovative therapies, and care organization. Four policy approaches emerged: Liberal, advocating for inclusivity and decentralized care; Conservative, emphasizing cost control and centralization; Balanced, integrating elements of both; and Status Quo, retaining the current system.

While centered on Bulgaria, these findings address universal challenges in rare cancer care, offering a framework adaptable to other EU countries. Adopting tailored policies can reduce disparities, improve patient outcomes, and align national strategies with EU objectives, particularly under Europe’s Beating Cancer Plan and the EU Cancer Mission.

📖  Read the full article here.

Systemic capillary leak syndrome: a nosological entity that the nephrologist must be aware of

by informer

Photo credits: pixabay.com

Capillary leak syndrome occurs when plasma leaks out of capillaries into muscles, tissues, organs and body cavities. There are two major types of capillary leak syndrome:

  • Secondary capillary leak syndrome – a single episode triggered by a disease, condition, or drug.
  • Idiopathic systemic capillary leak syndrome – a rare disorder causing recurrent, severe episodes of shock, hemoconcentration, and hypoalbuminemia.

An increase in capillary permeability results in reversible plasma movement into the interstitial spaces followed by the appearance of related symptoms or complications, including acute kidney injury. Cytokines are likely to be important in the pathophysiology of systemic capillary leak syndrome. Fluid management is a critical part of the treatment of systemic capillary leak syndrome: hypovolemia and hypotension can cause organ injury, whereas capillary leakage of administered fluid can worsen organ edema leading to progressive organ injury.

Although systemic capillary leak syndrome is a rare entity, it can be life-threatening. This review aims to increase awareness of systemic capillary leak syndrome in the nephrology community.

Read the full article here.

A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research

by informer

Photo credits: pixabay.com

Since 2016/17, three disease-modifying therapies for spinal muscular atrophy (SMA) have entered clinical practice, driving newborn screening to improve health outcomes. SMA registries have been crucial in tracking new phenotypes, treatment patterns, epidemiology, genotype-phenotype correlations, and patient experiences in this evolving landscape. This review examines their utility and importance.

By 2024, over 35 national registries catalog more than 8,000 individuals, with advocacy groups and pharmaceutical companies compiling data on over 10,000 more. Registries support clinical trials, track SMA incidence and prevalence, establish natural history data, contribute to drug surveillance, assess treatment effectiveness, and capture patient-reported outcomes.

Despite their broad utility, challenges include data fragmentation, quality, sharing, and resource constraints. Enhancing their value requires collaboration, interoperability, standardized data collection, and public involvement.

As new phenotypes and unmet needs emerge, registries remain essential for advancing knowledge and addressing patient priorities. Read the full article here.

International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome

by informer

Photo credits: pixabay.com

Schinzel-Giedion Syndrome (SGS) is an ultra-rare, multisystem genetic developmental disorder caused by gain-of-function pathogenic variants in the SETBP1 gene. Currently, no standard of care (SoC) recommendations exist.

This study aimed to assess expert opinions on SoC for individuals with SGS using a modified Delphi method. A multidisciplinary panel of 21 experts from the USA and Europe participated in a two-round questionnaire, with a subgroup joining a virtual workshop. Through this process, recommendations for diagnosis, monitoring, treatment, and management were iteratively developed.

Experts agreed that these recommendations should apply to any individual with confirmed SGS or an indicative phenotype with any SETBP1 gain-of-function mutation. Key considerations included early and sustained involvement of a multidisciplinary team, routine monitoring for common tumors, and vigilance for neurologic, renal, genitourinary, pulmonary, musculoskeletal, and gastrointestinal manifestations. Shared decision-making was emphasized as a critical component of care.

These recommendations provide guidance for clinicians, families, and caregivers, aiming to improve both the quality and duration of life for individuals with SGS. Read the full article here.

Rare disease gene association discovery in the 100,000 Genomes Project

by informer

Photo credits: pixabay.com

Up to 80% of rare disease patients remain undiagnosed even after genomic sequencing, likely due to pathogenic variants in disease–gene associations that have yet to be discovered. To identify such associations, a rare variant gene burden analysis framework for Mendelian diseases was developed and applied to protein-coding variants from whole-genome sequencing of 34,851 cases and their family members in the 100,000 Genomes Project.

This approach uncovered 141 new disease–gene associations, including five recently supported by independent studies. After in silico triaging and expert clinical review, 69 associations were prioritized, with 30 supported by existing experimental evidence. The five strongest associations, based on genetic and experimental data, linked:

  • UNC13A to monogenic diabetes (a known β cell regulator)
  • GPR17 to schizophrenia
  • RBFOX3 to epilepsy
  • ARPC3 to Charcot–Marie–Tooth disease
  • POMK to anterior segment ocular abnormalities

Further validation of these and other associations could lead to new diagnoses, highlighting the clinical impact of large-scale statistical approaches in rare disease–gene discovery.

Read the full article here.

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

by informer

Photo credits: pixabay.com

Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur either as isolated conditions or as part of various congenital disorders, such as Klippel–Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our understanding of the molecular mechanisms underlying many VMs remains limited. Furthermore, there is a lack of resources that consolidate current knowledge in this field.

In this review, a comprehensive analysis of the latest research on the molecular basis of VMs and the association of VM-related causative genes with bone developmental signaling pathways is provided. This study identifies 118 genes linked to VMs, with 98 of them involved in biological pathways crucial for vertebral column formation. Overall, the review summarizes current knowledge on VM genetics and provides new insights into the potential involvement of biological pathways in VM pathogenesis. Additionally, an overview of available data on the role of epigenetic and environmental factors in VMs is provided.

Areas where knowledge is lacking are identified, such as the precise molecular mechanisms through which specific genes contribute to VM development. Finally, future research avenues that could address these knowledge gaps are proposed.

Read the full article here.

Newer Posts
Older Posts