RecruitingOBSERVATIONAL

Natural History of Type 1 Interferonopathies: Insights From a European Cohort

This research project is investigating a group of rare genetic conditions called Type 1 interferonopathies. These conditions affect the body's immune system, leading to inflammation and various health issues, particularly in the brain and joints. While they often start in childhood, they can also appear in adults. People with these conditions have an overactive immune response, which the study calls an 'interferon signature'. The main goal is to understand how these conditions progress over time in both children and adults. By learning more about their natural course, scientists hope to discover better ways to diagnose these conditions, predict their progression, and find effective treatments tailored to each patient. Ultimately, this research aims to improve care for those living with Type 1 interferonopathies.

At a glance

Status

Recruiting

Sponsor

Imagine Institute

Enrolment target

500

Start

01 Oct 2025

Estimated completion

01 Oct 2045

Genetic Disease Immune Dysfunction Neurological Diseases or Conditions Autoimmune Diseases

What is this study about?

This study is focused on a group of very rare conditions known as Type 1 interferonopathies. These are not infections you can catch, but rather genetic conditions, meaning they are caused by changes in a person's DNA. These changes lead to problems with the immune system, which is your body's defence against illness. In people with Type 1 interferonopathies, the immune system is overactive in a specific way, causing inflammation and damage throughout the body.

These conditions can cause a wide range of health problems. While they often affect the brain and nervous system, leading to issues like developmental delays or movement problems, they can also cause joint pain and, less commonly, blood problems or increase the risk of infections. Current treatments aren't always effective, and the conditions often start in childhood, though they can also begin in adulthood.

The main aim of this research is to understand how Type 1 interferonopathies develop and change over time in both children and adults. By carefully observing patients, researchers hope to gain a clearer picture of the different ways these conditions can affect people. This knowledge is vital for developing better ways to diagnose these conditions earlier, predict how they might progress, and find new and more effective treatments that are specifically designed for people with Type 1 interferonopathies. This will help doctors offer more personalised care in the future.

Key takeaways

This study focuses on rare genetic immune conditions.
It aims to understand how these conditions develop over time.
Participation involves sharing existing medical information, not new treatments.
The research hopes to improve future diagnosis and treatment.
All ages and genders are included.
Your data will be kept confidential.

Who may be eligible?

To be part of this study, you would need to have a confirmed diagnosis of a Type 1 interferonopathy that has been identified through genetic testing. This means doctors have found a specific genetic change linked to your condition.

You also need to be covered by a social security scheme, like the NHS in the UK, or be a beneficiary of such a scheme. This helps ensure that your healthcare is financially supported.

However, if a patient, or their parent/guardian if the patient is under 18, does not wish to participate in the study, then they would not be included. The decision to take part is always yours, and you can say no at any point.

Quick self-check

Do you have a genetically confirmed Type 1 interferonopathy?
Are you covered by a social security scheme (like the NHS)?
Are you, or your child, willing to participate?
Are you comfortable with your medical records being used for research?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

This study aims to understand how Type 1 interferonopathies develop over time, so participation would mostly involve sharing your existing medical information. There are no new medications or treatments being tested in this study. You would not be required to take any experimental drugs or undergo unproven therapies.

Researchers would collect information about your health from your medical records, such as your diagnosis, symptoms you've experienced, how your condition has progressed, and any treatments you've received. This would be done over a period to see how the condition changes. The total duration of your participation would depend on how long your medical history is relevant to the study's scope, but it won't involve extra visits or tests beyond your usual medical care.

Potential risks and benefits

There are no significant physical risks involved in this study as it primarily involves reviewing existing medical records and does not require any new treatments, medications, or procedures. The main benefit is that by contributing your de-identified health information, you will help researchers better understand Type 1 interferonopathies. This knowledge could lead to earlier diagnoses, improved treatments, and a better quality of life for future patients. You have the right to withdraw from the study at any time without giving a reason, and your decision will not affect your medical care.

Locations (32)

Medical University Innsbruck
Innsbruck, Austria· Not yet recruiting
Antwerp University Hospital
Antwerp, Belgium· Not yet recruiting
Children's Hospital Zagreb
Zagreb, Croatia· Not yet recruiting
Motol University Hospital
Prague, Czechia· Not yet recruiting
CHU d'Angers
Angers, France· Recruiting
Hôpital de Mercy - CHR Metz Thionville
Ars-Laquenexy, France· Recruiting
CHU de Besançon
Besançon, France· Recruiting
CHU de Bordeaux
Bordeaux, France· Not yet recruiting
CHU Morvan
Brest, France· Recruiting
Hôpital Femme Mère Enfant - HCL
Bron, France· Recruiting
CHU de Dijon
Dijon, France· Not yet recruiting
Hôpitaux Nord Ouest Villefranche
Gleizé, France· Recruiting

+20 more sites — see the official record for the full list.

Common questions

What is a Type 1 interferonopathy?

It's a rare genetic condition where your immune system is overactive, causing inflammation and various health problems, often in the brain and joints.

Will I receive new treatment in this study?

No, this study is about understanding how these conditions progress, not testing new treatments. You won't receive new medications or procedures.

Will my personal details be shared?

No, your data will be anonymised or de-identified, meaning your name and other personal details won't be linked to the information shared with researchers.

Do I have to take part?

No, taking part is completely voluntary. You can decide not to participate, or withdraw at any time, without affecting your medical care.

What is the main goal of this research?

The goal is to better understand how Type 1 interferonopathies develop and affect people, to find better ways to diagnose and treat them in the future.

How to find out more

Marie-Louise FREMOND, Pr

marie-louise.fremond@institutimagine.org 01 44 49 48 24 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.