An international investigation, co-led by the Carlos III Health Institute (ISCIII), has identified mutations in the EHMT2 gene responsible for Kleefstra syndrome. This is the second gene linked to this ultra-rare disease that compromises brain development.The work, published in "Nature Communications" and carried out with Charles University in Prague (Czech...
Twenty-five percent of people with primary immune thrombocytopenia (ITP) experience work incapacity, and up to 89 percent report a deterioration in their mental health and daily lives. This data comes from a multidisciplinary report, developed with the social endorsement of the Spanish Society of Hematology and Hemotherapy (SEHH) and the...
Healthcare professionals and patient associations are demanding that mental health and the psychosocial impact of primary immune thrombocytopenia (ITP) be structurally incorporated into the management of this pathology, as its consequences go beyond the risk of bleeding.This demand is reflected in the report "Conexión PTI 360," prepared by Sanofi with...
Four women will set out to swim across the Strait of Gibraltar this weekend with the aim of raising funds for research into rare diseases through the Hospital Sant Joan de Déu de Barcelona, as two of them explained to Europa Press.The "Travesía para la Esperanza" (Voyage for Hope) is...
The pediatrician and expert in rare and metabolic diseases at the Virgen del Rocío University Hospital in Seville, Antonio González-Meneses, warned this Monday that households with patients with lysosomal disorders bear an annual outlay of close to 42,000 euros. This amount comes from unfunded treatments, informal care, and loss of...
The Spanish Federation of Rare Diseases (FEDER) has described the green light given in the Health Commission of Congress to the Neonatal Screening Bill as a "historic step," a regulation that aims to expand, accelerate, and ensure equal access to these tests throughout the country.The organization recalls that neonatal screening...
The new Spanish framework for Health Technology Assessment (HTA) has recently been approved by Royal Decree 415/2026. What impact will it have on rare diseases and orphan drugs? Among the possible benefits, the greater participation of patients and associations stands out, as the Royal Decree expressly mentions the need to...
The Board of Spokespersons of the Parliament of Navarre has given the green light to an institutional declaration through which the Chamber expresses its recognition and solidarity towards people suffering from Dravet syndrome. The initiative has been jointly promoted by UPN, PSN, EH Bildu, Geroa Bai, PPN, and Contigo-Zurekin.The approved...
The Spanish Society of Pediatric Neurology (SENEP) has emphasized that initiating an early and highly specialized approach is decisive for modifying the natural course of Dravet syndrome, a rare neurodevelopmental disorder estimated to affect approximately one in every 15,000 newborns."Early diagnosis is more important today than ever, as recognizing the...
The National Association of Health Informers (ANIS) and the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU) held a new edition of their Training Day for Journalists this Thursday, dedicated to rare diseases and orphan drugs. At the opening of the meeting, Beatriz Perales, president of AELMHU, presented the current...
The president of the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU), Beatriz Perales, has reported that the average time for patients in Spain to access orphan drugs has been reduced to 22 months in the first four months of 2026, one month less than at the end of...
The Madrina Foundation has issued a statement in which it calls for Friedreich's ataxia to be declared a "national priority" in the face of "institutional neglect" that, in its opinion, affects people with this condition. As an example, the entity cites the case of Álvaro Valderrama, whose life "is slowly...
The PocoFrecuentes Association has announced its new 'PocoFrecuentes Social Observatory', "a pioneering project in Spain that arises from the patient community itself" and which aims to "analyze the spontaneous conversations of those living with a rare disease to transform that voice into useful knowledge" for the National Health System (SNS),...
The Networking Biomedical Research Centre for Rare Diseases (CIBERER) has communicated its involvement in "Orphanet Data for Rare Diseases 3" (OD4RD3), a European initiative that "drives interoperability in rare diseases" and has just entered its third stage of development.As detailed by the entity, the "objective" is to "promote the adoption...
The Spanish Society of Neurology (SEN) has warned that in Spain there are more than 16,000 people with myasthenia gravis and that more than 1,000 new diagnoses of this pathology are detected each year, which can interfere with basic tasks such as seeing, speaking, eating, walking, or breathing."Myasthenia gravis is...
The Assembly of the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU) has appointed the new board of directors for the 2026-2028 period and has confirmed the continuity of Beatriz Perales as president for the next two years, a position she combines with the direction of Access and Institutional...
The Assembly of the Spanish Association of Laboratories of Orphan and Ultra-Orphan Drugs (AELMHU), made up of its 29 associated companies, has elected this Wednesday the new Board of Directors of the Association for the 2026-2028 period. The AELMHU Board of Directors, which will continue to be chaired by Beatriz...
The president of Duchenne Parent Project Spain (DPPE), Silvia Ávila, has pointed out that 82 percent of people with Duchenne muscular dystrophy included in their Patient Registry have participated in at least one clinical trial, "which represents a record figure in the rare diseases sector.""Research is fundamental for these patients,...
The Spanish Society of Health Directors (SEDISA) has launched the Working Group for the Integral Management of Rare/Minority/Infrequent Diseases, with the aim of advancing towards a specific reference framework for health directors in addressing these pathologies within the National Health System.SEDISA recalls that, with more than 3 million people affected...
The Spanish Federation of Rare Diseases (FEDER) underlines the essential role of clinical trials in the field of rare pathologies, defining them as a "key tool" to advance in diagnosis, scientific knowledge, and the arrival of new therapeutic options that allow for improving the quality of life of the more...
Tomorrow marks the International Clinical Trials Day. Coinciding with the date, the Spanish Association of Laboratories for Orphan and Ultra-Orphan Drugs (AELMHU) has just published the 'Report on Clinical Trials for Rare Diseases in Spain 2025' The document analyzes the most relevant data on clinical trials authorized for these pathologies...
The Spanish Association of Laboratories of Orphan and Ultra-Orphan Drugs (AELMHU) has reported that Catalonia, Madrid, and Andalusia "accounted for more than 50 percent of studies on rare diseases in 2025, thus 'leading research' in this field in Spain.""These data confirm that research into rare diseases continues to advance and...
The deputy of the Allergy Service and the Hereditary Angioedema Reference Center of the Vall d'Hebron University Hospital in Barcelona, Mar Guilarte, has pointed out that underdiagnosis "continues to be a significant challenge" in hereditary angioedema (HAE), as its clinical manifestations are often confused with common pathologies, such as allergic...
Question: Let's start by talking about the amendments that insist on protecting incentives for innovation and economic viability of orphan drugs. Do you think the current European framework sufficiently guarantees that balance or that it needs to be strengthened?Answer: Responding very directly, I believe it is necessary to reinforce it,...