VI AELALD Family Meeting – Zaragoza, November 23, 2024
Last Saturday, November 23rd, the Spanish Association of Lysosomal Acid Lipase Deficiency (AELALD) held its Annual Meeting of LAL-D Families at the San Valero Center in Zaragoza. This event brought together patients, family members, experts, and collaborators to share experiences, knowledge, and proposals to strengthen the LAL-D community in Spain.
The opening ceremony was led by Eduardo López, president of AELALD, who presented the association’s latest activities and highlighted the progress made during the year. Throughout the day, attendees participated in various presentations by renowned specialists, addressing crucial topics such as:
- The importance of research into rare diseases such as ALL-D, highlighting the role that science plays in improving diagnosis and treatment. Research into rare diseases not only benefits affected patients but also drives advances in general medical science. These diseases often serve as models for understanding molecular and genetic mechanisms that are also relevant in common diseases. For example, studies into rare genetic diseases have provided important insights into cancer and autoimmune diseases.
- Early diagnosis and the effective transition of pediatric patients to adult units requires interdisciplinary collaboration, specific tools, and patient empowerment.
- Early diagnosis and the effective transition of pediatric patients to adult units requires interdisciplinary collaboration, specific tools, and patient empowerment.
One of the most innovative moments was the interactive activity with Mentimeter, which allowed families to express their opinions and needs in a dynamic way. The responses reflected a shared interest in topics such as the search for a definitive cure and the improvement of current treatments. The word cloud generated included terms such as hope, unity, and support, highlighting the emotional and social impact of these encounters.
Eduardo López closed the day by addressing the upcoming creation of a European LAL-D association, a key step toward uniting efforts internationally and strengthening research and patient support across Europe.
The meeting concluded with a joint activity in which families shared quality time, reinforcing the community spirit that characterizes the association.
Meeting of the Committee of Experts on LAL-D – Zaragoza, November 22, 2024
The day before, AELALD organized an important meeting of the LAL-D Expert Committee at the Silken Reino de Aragón Hotel, consolidating its commitment to research and improving patients’ quality of life.
During the session, leading national and international specialists discussed advances in key areas, such as the multimodal management of Wolman’s disease and the identification of new biomarkers such as lipocalin-2 and NETs (neutrophil extracellular traps). In addition, the latest update of the MARKLALD study, focused on liver markers, was presented, and practical recommendations for the transition of pediatric patients to adult care were discussed.
One of the highlights was the discussion led by Eduardo López on the creation of a European Registry of Patients with LDL-D, a key tool for fostering research and optimizing clinical care across Europe.
Both events not only reaffirmed AELALD’s leadership in supporting families and scientific research, but also its commitment to building a strong European network to address the challenges of this rare disease.
