L-ICP4Rare-DX

Improving the diagnosis and care for children affected by a rare disease

The ICP4RareDx project aims to improve the diagnosis of people living with a rare disease who have not yet received a confirmed diagnosis. Many patients, particularly children, face a long and complex “diagnostic odyssey”, often consulting multiple healthcare professionals over several years before receiving the correct diagnosis or, in some cases, remaining undiagnosed.

By working closely with patients, caregivers, and healthcare professionals, the project seeks to better understand the challenges people face throughout the diagnostic journey. These insights will be used to develop a coordinated diagnostic pathway that will form the basis of an Undiagnosed Disease Program in Luxembourg. The goal is to help people with suspected rare diseases receive an accurate diagnosis more quickly, improve coordination of care, and provide earlier access to the most appropriate treatment and support.

About the study

Recruiting

Healthy Volunteers, Patients 1–22 years

Pediatrics & Rare diseases

Locations

Luxembourg Institute of Health – Clinical Investigation Unit 1A-B rue Thomas Edison
L-1445 Strassen

Contact

icp4rare@lih.lu

+352 26970-400

Ready to take part?

Our team is available to answer all your questions before you decide.

Participate in this study

Who can participate?

Eligible participants

You may be eligible to participate if you are:

A patient:

Between 1 and 22 years of age, diagnosed with a rare disease within the past 5 years; or
Between 10 and 18 years of age with a suspected rare disease, searching for a diagnosis for more than 1 year.

A parent or legal representative:

The parent or legal representative of a child or young person with a rare disease or a suspected rare disease. Parents may participate on their own or together with their child if the child is 10 years of age or older.

A healthcare professional:

A healthcare professional involved in the care of children and young people with rare diseases, with at least 2 years of experience. Professionals from a range of disciplines are invited to participate, including physicians, nurses, psychologists, social workers, geneticists, and healthcare managers.

Exclusion criteria

You may not be eligible to participate if you do not belong to one of the groups listed above or do not meet the age or experience requirements.

Not sure about eligibility?

The study team will review each case individually to determine eligibility. If you are unsure whether you are eligible, do not hesitate to contact us.

What will participants do?

If you are a patient or parent/legal representative:

01.

Take part in an individual 1-hour interview

This can take place online or in person with a member of the research team, in your preferred language: English, French, German, or Portuguese. You will be invited to share your experience of the rare disease diagnostic journey.