Luxembourg Institute of Health Launches ICP4Rare Diseases Study to Improve Diagnosis for Children with Rare Diseases

Luxembourg Institute of Health Launches ICP4Rare Diseases Study to Improve Diagnosis for Children with Rare Diseases

(IN BRIEF) The Luxembourg Institute of Health has launched ICP4Rare Diseases, a new research project focused on improving the diagnostic pathway for children with rare diseases in Luxembourg. Led by the Clinical and Epidemiological Investigation Center, the study will explore the experiences of children, families and healthcare professionals to better understand delays, barriers and unmet needs in the current diagnostic process. Rare diseases affect an estimated 30,000 people in Luxembourg and more than 300 million worldwide, with many conditions appearing in childhood. Through interviews and focus group discussions, researchers aim to gather practical insights that can support the development of a more coordinated and integrated approach to rare disease diagnosis and care. The project is being carried out with academic, clinical and patient-support partners, including the University of Luxembourg, the University of Porto, ALAN Maladies Rares Luxembourg, the Centre Hospitalier de Luxembourg and the Laboratoire National de Santé.

(PRESS RELEASE) LUXEMBOURG, 16-Jun-2026 — /EuropaWire/ — The Luxembourg Institute of Health has launched a new rare disease research project designed to improve understanding of the diagnostic journey faced by children and families in Luxembourg. The study, titled ICP4Rare Diseases, is led by the Clinical and Epidemiological Investigation Center within LIH’s Department of Precision Health.

The project aims to examine how children with diagnosed or suspected rare diseases currently move through the healthcare system in Luxembourg, with a focus on identifying unmet needs, barriers to diagnosis and opportunities to improve access to care. Patients, families and healthcare professionals are being invited to contribute their experiences and perspectives to help shape a clearer picture of the current diagnostic pathway.

Rare diseases affect more than 300 million people worldwide, including an estimated 30,000 individuals in Luxembourg. Between 5,000 and 8,000 rare diseases have been identified, and around 80% of them affect children. Despite this, many patients and families continue to face long and uncertain diagnostic journeys, often involving multiple appointments, referrals and delays before a confirmed diagnosis is reached.

The ICP4Rare Diseases study has been created to better understand these challenges in the Luxembourg healthcare context. Researchers will explore how rare diseases are detected, investigated and diagnosed, particularly among paediatric patients, and will use the findings to identify ways to make the diagnostic process more coordinated and efficient.

Rita Da Rocha Oliveira, doctoral candidate within CIEC, said families affected by rare diseases often experience a long and complex route to diagnosis, with some waiting years between the first symptoms and confirmation of the disease. She noted that such delays can have serious medical, emotional and social consequences for children and their families. The study will therefore examine the experiences of patients, parents and healthcare professionals directly involved in the diagnostic process.

The research team will gather information through interviews and focus group discussions. Families of children with a diagnosed or suspected rare disease will be invited to describe their experience of navigating the healthcare system, the difficulties they encountered and the improvements they believe are needed. Healthcare providers involved in rare disease care will also be asked to share their professional insights.

These contributions will help researchers identify key gaps in the current system and support the development of a more integrated diagnostic pathway for rare diseases in Luxembourg. The goal is to improve recognition, referral, diagnosis and care coordination for children affected by these conditions.

Dr Manon Gantenbein, Head of CIEC and principal investigator of the study, said the ICP4Rare Diseases project brings together patients, families and healthcare professionals in an important effort to improve the recognition and diagnosis of rare diseases in Luxembourg. She added that the project is intended to strengthen the care and support available to affected children and their families.

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

Scientific Contact:

Scientific Contact
Manon Gantenbein
Head of Unit CIEC & CPMO, Clinical and Epidemiological Investigation Center
Contact

SOURCE: Luxembourg Institute of Health