Improving the diagnostic pathway for children with rare diseases in Luxembourg

“ICP4Rare Diseases”, a new LIH project on rare diseases

• Department of Precision Health
• Clinical and Epidemiological Investigation Center (CIEC)

The new study led by the Clinical and Epidemiological Investigation Center (CIEC) of the Luxembourg Institute of Health aims to better understand the diagnostic journey of children suffering from rare diseases in Luxembourg and their unmet needs, ultimately identifying ways to improve how patients access diagnosis and care. Patients, their families and their healthcare providers are invited to participate in the project by sharing their insights and experience.

Rare diseases affect more than 300 million individuals worldwide, including an estimated 30,000 people in Luxembourg. With between 5,000 and 8,000 different rare diseases identified to date, around 80% of which affect children, timely and accurate diagnosis remains a major challenge for patients, families and healthcare systems.

To help address this issue, researchers at the LIH have launched the ICP4Rare disease study, which aims to better understand how rare diseases are currently diagnosed in Luxembourg and to identify ways to improve and streamline the diagnostic process for paediatric patients.

“Families affected by rare diseases often face a long and complex diagnostic journey, sometimes taking years between the first symptoms and a confirmed diagnosis. This delay can have significant medical, emotional and social consequences for children and their families. Our study seeks to better understand these challenges by exploring the experiences of patients, parents and healthcare professionals involved in the diagnostic pathway”, explains Rita Da Rocha Oliveira, doctoral candidate within the CIEC.

Through interviews and focus group discussions, the research team will collect insights from families of children with a diagnosed or suspected rare disease, as well as from healthcare professionals involved in their care. Participants will be invited to share their experiences of navigating the healthcare system, the barriers encountered along the way, and their perspectives on how the diagnostic process could be improved. These contributions will help identify key unmet needs and inform the development of a more integrated and coordinated diagnostic pathway for rare diseases in Luxembourg.

By bringing together patients, families and healthcare professionals, the ICP4Rare study represents an important step toward improving the recognition and diagnosis of rare diseases in Luxembourg, and ultimately enhancing the care and support available to affected children and their families

concludes Dr Manon Gantenbein, Head of CIEC and principal investigator of the study.

The study is conducted in collaboration with the University of Luxembourg and the University of Porto, and is supported by ALAN Maladies Rares Luxembourg, the Centre Hospitalier de Luxembourg and the Laboratoire National de Santé.