ICP4Rare Disease Study

Understanding the diagnostic journey of rare disease in Luxembourg.

Frequently asked questions
CONTACT US

About the Study

Every family’s diagnostic journey is unique.

The ICP4Rare project aims to better understand families’ experiences with the diagnostic process for rare diseases in Luxembourg. The family’s insights can help researchers identify common challenges and unmet needs during the diagnostic process.

Your lived experience and voice matter!

Who can participate?

PATIENTS

  • Diagnosed patients (1-22 years old) with rare diseases. Diagnosis given in the last 5 years.
  • Undiagnosed patients (10-18 years old) with suspected rare disease and searching for diagnosis for >1 year

PARENTS/LEGAL REPRESENTATIVES

  • Parents or Legal Representatives alone OR with their children if older than 10 years old.

HEALTHCARE PROFESSIONALS

  • From any professional background (e.g. paediatricians, nurses, social workers, psychologists, geneticists and healthcare service managers)
  • With a minimum of 2 years of experience, and who deliver care in rare diseases and who support paediatric patients, living with a rare disease;

What happens when you take part in the study?

Process for patients and parents/legal representatives:

What does this process involve?

  • Meet our Clinical Research Nurses for an interview in your preferred language: EN, FR, DE, PT
  • The FG session may be online or in-person.
  • The FG session will take approximately 2h in total.

What is the interview about?

  • Patients’ rare disease diagnostic journey;
  • The diagnostic journey experience (including questions about the impact of the diagnostic odyssey on the patients and parents/caregivers’ routine);
  • Healthcare services offered during diagnostic journey;
  • Factors that affected the diagnostic journey;
  • Top 3 priorities to improve the diagnostic journey from a parent/caregiver perspective.

Process for Healthcare Professionals:

What does this process involve?

  • Meet the Clinical Research Team and any other participating HCP’s for a focus group (FG) session.
  • The FG session may be online or in-person.
  • The FG session will take approximately 2h in total.

What is FG session about?

  • Description of how diagnostic process is currently delivered;
  • Barriers and facilitators around diagnostic odysseys/delayed diagnosis;
  • Components that must be integrated to improve the diagnostic process;
  • Communication/sharing information between different HCPs;
  • Context for different diseases and ages;
  • Top 3 priorities to improve rare disease diagnosis from an HCP perspective.

Why your participation matters:

Your participation in this study is not just about collecting data from the study interview and focus groups. It is about making a difference in the lives of families affected by rare diseases.

By sharing your lived experiences and professional insights, during the interview and focus groups, respectively, we will be able to figure out what is working and what is not working during the diagnostic process, so we can develop an improved and optimised diagnostic pathway.

Together, we can make a difference!

CONTACT US:

If you’re interested in contributing to this important research, please reach out using the contact information below:

Research Team: Clinical and Epidemiological Investigation Center (CIEC)
6A, Rue Rue Nicolas-Ernest Barblé, L-1210 Luxembourg

☎️ Call us +352 26970-400 or email us at 📧 icp4rare@lih.lu

For information about administrative, social and psychological support, consult the psycho-social consultation service of ALAN – Maladies Rares Luxembourg: https://alan.lu/consultations-and-support/

FAQs

How rare are Rare Diseases?

While the term “rare” might suggest only a few, the reality is quite the opposite. In Luxembourg alone, around 30,000 individuals live with a rare disease, and globally, these conditions affect over 300 million people. This means that, collectively, rare diseases are far from rare!

So, why are they labelled as ‘Rare’?

That is because there are between 6,000 and 8,000 distinct rare diseases and each specific rare disease affects a small number of individuals. In the European Union, a rare disease is defined as one disease that affects no more than 1 in 2,000 people, but this definition varies and it is not consensual worldwide.

What causes these diseases?

The origin of rare diseases are not yet well understood, but research indicates that over 80% of them have a genetic origin. Many arise from mutations—alterations in our DNA that disrupt the vital instructions necessary for our bodies to function correctly. This can lead to a range of health challenges that vary widely in severity and manifestation.

When are rare diseases typically identified?

Rare diseases are typically identified very early in age. That’s right, approximately 70% of the rare diseases start in childhood.

However, rare diseases are often diagnosed much later than expected. It can take a long time from when symptoms are first noticed to when doctors figure out what is wrong. Sadly, many children live without a confirmed diagnosis for a long time, going through what is called a “Diagnostic Odyssey.”

In Europe, on average it takes almost five years to get a confirmed diagnosis. This prolonged diagnostic odyssey can severely affect the physical health and emotional well-being of both children and their families.

So, what initiatives are underway in Luxembourg to address this challenge?

In response to this urgent public health issue, the Luxembourg Institute of Health (LIH) in collaboration with the University of Luxembourg (UL) and University of Porto (UP) and with the support of ALAN, the Center Hospitalier de Luxembourg (CHL), and the Laboratoire National De Santé (LNS) has launched a research study entitled “Developing an Integrated Diagnostic Care Pathway model in Luxembourg for paediatric patients with a suspected diagnosis of a rare disease.” The goal of this study is to develop a streamlined diagnostic pathway that guides patients from their first symptoms to a confirmed diagnosis, ensuring they receive timely, coordinated and appropriate care.

What is a diagnostic care pathway model?

A diagnostic pathway model is like a detailed flight plan that the pilot follow in order to ensure you will arrive safely to the destination. Just like a flight map provides clear routes, lists all stops and includes instructions for different situations (e.g. turbulence), a diagnostic pathway aims to outline the steps of the diagnostic journey necessary to be followed in order to ensure patients receive the right care at the right time.

We aim to guide the patients from their first symptoms to a confirmed diagnosis, ensuring they receive timely, coordinated and appropriate care.

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