The ERN Chronicles: Empowering Collaboration for Rare Disease Solutions

Rare diseases affect millions of people globally, and efforts are ongoing to improve #diagnosis, #research, and support for those impacted by these conditions.

Up to?36 million people (~4.8% of total population)?in the EU live with a rare disease. There are more than?6,000 distinct rare diseases?in the #EU. So, whilst one rare disease may affect only a handful of #patients, another may touch as many as?250,000.?

Around 80% of rare diseases are of #genetic origin, and of those, 70% already start in childhood. These numbers highlight the significant impact of rare diseases on individuals and their families across #Europe.?

Efforts are being made to improve #patient access to knowledge, #diagnosis, and care through initiatives like the European Reference Networks (ERNs) and support for research and innovation #programs.

Source: European Commission

Reference: Rare diseases - European Commission (europa.eu)

Global Statistics

1. Global Prevalence: The estimated prevalence of rare diseases in the general population ranges from 3.5% to 5.9%, corresponding to approximately 260 to 440 million people worldwide at any given moment.
2. Genetic Origin: Around 80% of rare diseases have a genetic cause, with nearly 70% of these presenting in childhood.
3. Lack of Approved Treatments: Approximately 95% of rare diseases lack FDA approved treatments.
4. Delayed Diagnosis: The average time for rare #disease patients to receive an accurate #diagnosis is 4.8 years. This delay can have significant economic impact, with avoidable costs per patient reaching up to US$517,000.
5. Child Mortality: Tragically, about 30% of children with a rare disease do not live to see their 5th birthday.

Reference:

1. Rare disease clinical trials: unveiling insights and charting progress
2. Rare disease emerging as a global public health priority
3. The landscape for rare diseases in 2024
4. Rare disease facts

“Establish and implement plans or strategies for rare diseases at the appropriate level or explore appropriate measures for rare diseases in other public health strategies, in order to aim to ensure that patients with rare diseases have access to high-quality care, including diagnostics, treatments, habilitation for those living with the disease and, if possible, effective orphan drugs.” - Victoria Hedley et. al. J. Community Genet 12, 207–216 (2021) DOI: 10.1007/s12687-021-00525-4

European Reference Networks

European Reference Networks (ERNs) are collaborative #networks of #healthcare providers spanning Europe, focused on addressing complex and rare diseases requiring specialized treatment. Utilizing dedicated #IT platforms, #ERNs facilitate interdisciplinary discussions among #medical specialists to review patient #diagnoses and #treatment plans virtually.

In addition to patient care, ERNs are actively engaged in research, establishing registries, formulating #clinical guidelines, and fostering knowledge exchange among #healthcare professionals and #patient organizations. Since their inception in 2017, the initial 24 ERNs have expanded significantly, comprising over 900 highly-specialized #healthcare units from 300+ hospitals across 26 Member States. By January 2022, the ERN network saw an influx of more than 600 new specialized hospital units, totaling nearly 1500 members.

The networks

European Reference Networks Search Tool Access Here

List of individual ENR organizations

ERN BOND European Reference Network on #bone #disorders Website

ERN CRANIO European Reference Network on #craniofacial anomalies and ear, nose and throat (#ENT) disorders Website

Endo-ERN - European Reference Network European Reference Network on #endocrine conditions Website

ERN EpiCARE - Rare and Complex Epilepsies Website

ERKNet European Reference Network on #kidney #diseases Website

ERN-RND, European Reference Network for Rare Neurological Diseases Website

ERNICA European Reference Network on inherited and congenital anomalies Website

ERN-LUNG - European Reference Network for rare respiratory diseases European Reference Network on #respiratory diseases Website

Ern-Skin European Reference Network on #skin disorders (Website)

ERN EURACAN European Reference Network on adult #cancers (solid tumours) Website

ERN-EuroBloodNet (European Reference Network on Rare Hematological Diseases) Website

ERN eUROGEN European Reference Network on #urogenital diseases and conditions Website

ERN EURO-NMD European Reference Network on #neuromuscular diseases Website

ERN-EYE European Reference Network on #eye diseases Website

ERN GENTURIS European Reference Network on #genetic #tumour risk syndromes Website

ERN GUARD-Heart European Reference Network on diseases of the #heart Website

ERN ITHACA European Reference Network on congenital malformations and #rare #intellectual disability Website

MetabERN European Reference Network on hereditary #metabolic disorders Website

ERN PaedCan European Reference Network on #paediatric #cancer (#haemato #oncology) Website

ERN RARE-LIVER European Reference Network on #hepatological diseases Website

ERN ReCONNET European Reference Network on connective tissue and musculoskeletal diseases Website

ERN RITA European Reference Network on #immunodeficiency, #autoinflammatory and #autoimmune diseases Website

ERN TRANSPLANT-CHILD European Reference Network on #Transplantation in #Children Website

VASCERN, European Reference Network on Rare Multisystemic Vascular Diseases Website

Good to read:

Shaping national plans and strategies for rare diseases in Europe: past, present, and future by Victoria Hedley et. al. J. Community Genet 12, 207–216 (2021) DOI: 10.1007/s12687-021-00525-4

About Author

Avisek Ghose is a #healthcare market researcher, driven by #marketing passion. A seasoned #consultant and trained bio #imaging specialist who shares his insights and outlook about recent trends, challenges and opportunities about early #market access strategies, #HEOR and #HTA issues in #Medtech and #Pharma industry.

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Disclaimer

This #newsletter is for awareness purpose only and is based on the various publications as cited in the reference sections. For more details, readers must refer to the official version(s).

?? The author took extreme care for citing credits wherever applicable, however, in case of missing citation(s) and/or any other discrepancies, please inform Avisek Ghose immediately indicating the same with valid documentation(s).

#rarediseaseawareness #globalhealth #healthcareresearch #geneticdiseases #healthcaresupport #patientcare #rarediseasecommunity #europeanreferencenetworks #rarediseasesupport #publichealthinitiatives #orphandrugs