6th World Conference on CDG – 21-23 July 2023
Global experts and families gather in Portugal to discuss advances in Congenital Disorders of Glycosylation treatment and care.
6th World Conference on CDG – 21-23 July 2023 Read More »
News for Patients
2023 CTX International Scientific Meeting in Jerusalem
International experts gather in Jerusalem to advance research and clinical collaborations in Cerebrotendinous Xanthomatosis.
2023 CTX International Scientific Meeting in Jerusalem Read More »
EVALUATING THE DIRECT AND INDIRECT COSTS OF FABRY DISEASE IN ITALY
The Italian Anderson-Fabry Association commissioned a survey by C.R.E.A. Sanità in 2018 to evaluate various socio-economic aspects affecting the families and patients living with Fabry disease, such as the quality of life, methods of treatment, support from the National Health Service, and the costs related to the treatment of the disease. 106 patients with a confirmed diagnosis
EVALUATING THE DIRECT AND INDIRECT COSTS OF FABRY DISEASE IN ITALY Read More »
Patient representatives for Smith-Lemli-Opitz syndrome are looking for European families
A new research project explores Smith-Lemli-Opitz syndrome’s lifelong impact, inviting European families to share their experiences.
Patient representatives for Smith-Lemli-Opitz syndrome are looking for European families Read More »
Pregnancy and Family Planning in rare diseases: a survey for patients and clinicians
MetabERN’s European survey on pregnancy and family planning for rare disease patients and clinicians aims to improve healthcare standards.
Pregnancy and Family Planning in rare diseases: a survey for patients and clinicians Read More »
Prof. Maurizio Scarpa in the AIAF IN CONNESSIONE meeting
Prof. Scarpa discussed COVID-19 vaccines and ERN recommendations for Lysosomal patients at the AIAF IN CONNESSIONE meeting.
Prof. Maurizio Scarpa in the AIAF IN CONNESSIONE meeting Read More »
EJP RD – Expression of interest to participate in the first online paediatric expert patients training workshop
Young rare disease patients (12-18) can apply for an EJP RD training on research and advocacy. Applications close on 30 October 2021.
New study in patients with Smith-Lemli-Opitz syndrome
A study published in Biomolecules explores the biochemical and clinical effects of Vitamin E in Hungarian SLOS patients.
New study in patients with Smith-Lemli-Opitz syndrome Read More »
EMERGENCY PROTOCOLS FOR PATIENTS WITH FAOD OR GSD | 22 JUNE 2021
An emergency letter and knowing how to use it can prevent life-threatening situations and will optimize communications between parents and doctors.
EMERGENCY PROTOCOLS FOR PATIENTS WITH FAOD OR GSD | 22 JUNE 2021 Read More »
10 Principles for Greater Patient Empowerment
Weber Shandwick, in collaboration with EU patient groups, trade associations and policy-makers has produced a set of 10 principles and actions.
10 Principles for Greater Patient Empowerment Read More »
Generic Emergency Protocol
MetabERN launches an online emergency protocol generator for patients with fatty acid oxidation and glycogen storage disorders.
Generic Emergency Protocol Read More »
“Patient Journeys”: improving care by patient involvement
New initiative explores patient experiences in rare disease care to improve healthcare services and clinical guidelines development.
“Patient Journeys”: improving care by patient involvement Read More »
