RecruitingOBSERVATIONAL

National Cohort on Congenital Defects of the Eye

This research is looking into a group of uncommon eye conditions, such as microphthalmia (small eyes), anophthalmia (missing eyes), and aniridia (missing coloured part of the eye). These conditions happen when the eye doesn't develop as it should. We know that these eye conditions can sometimes be linked to other health issues or learning difficulties, but there's still a lot to learn about how they affect people's vision and overall health in the long run. This study will carefully follow children and adults with these conditions for up to 10 years. By doing this, the researchers hope to better understand how these conditions progress, what factors might lead to better or worse outcomes, and how they impact the quality of life for patients and their families. Ultimately, the goal is to improve the way these conditions are managed and cared for in the future.

At a glance

Status

Recruiting

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Enrolment target

800

Start

11 Jul 2017

Estimated completion

01 Jul 2037

Anophthalmia Microphthalmia Aniridia Anterior Segment Dysgenesis 6, Peters Anomaly Subtype Anterior Segment Dysgenesis 3, Rieger Subtype

What is this study about?

This study is called the 'National Cohort on Congenital Defects of the Eye'. In simple terms, a 'congenital defect' means something a person is born with. This research focuses on several rare eye conditions that are present from birth. These include microphthalmia (where one or both eyes are smaller than usual), anophthalmia (where one or both eyes are missing), and aniridia (where the coloured part of the eye, called the iris, is partly or completely missing). They also include other conditions affecting the front part of the eye, like Peters Anomaly and Rieger Subtype, which can sometimes lead to problems like glaucoma or cataracts.

Researchers know that these eye conditions can sometimes go hand-in-hand with other health challenges or learning difficulties, but they don't fully understand why or how often this happens. They also want to learn more about how a person's vision is affected over many years. Because these conditions are rare, it's been hard to gather enough information to properly predict how a child's vision and development might progress, or to create clear care plans. This study aims to fill these gaps in our knowledge.

By carefully following a large group of people with these conditions for up to 10 years, the study hopes to learn how vision and brain development change over time. They will also look for links between specific genetic changes and the development of eye or neurological issues. This information should help doctors and families better understand these conditions, predict future outcomes, and ultimately lead to better care and support for people living with them, improving their daily lives.

Key takeaways

This study focuses on rare eye conditions present from birth, like microphthalmia and aniridia.
It aims to understand how these conditions affect vision, development, and quality of life over many years.
The study gathers information through regular check-ups and medical records, without new treatments.
Participation could help improve future care for people with these eye conditions.
It includes people of all ages, from babies to adults.

Who may be eligible?

This study is looking for people of all ages who have certain eye conditions that they were born with. This includes babies, children up to age 7, older children, and adults. The eye conditions covered are microphthalmia (smaller than usual eyes), anophthalmia (missing eyes), aniridia (missing coloured part of the eye), and problems with the front part of the eye, which doctors call anterior segment dysgenesis.

For children to take part, their parents or guardians need to understand the study and agree to their child being involved. For adults, if you can understand the study yourself, you can give your own consent. If an adult needs a guardian, that guardian can give permission. They also want to include adults who have learning difficulties linked to their eye condition, as it's important to study everyone affected.

As long as you meet these criteria, there are no specific reasons that would stop someone from joining the study. Pregnant women can also be included. If you're unsure if you or your child qualifies, it's best to talk to your doctor.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do you or your child have one of these eye conditions: anophthalmia, microphthalmia, aniridia, or anterior segment dysgenesis (like Peters or Rieger Anomaly)?
Are you, or is your child, able to attend regular check-ups or have medical records shared?
If you are an adult, are you able to understand the study and agree to take part, or do you have a guardian who can give permission?
If it's for your child, are you, as a parent or guardian, able to understand the study and agree for your child to take part?
Are you comfortable with your medical information being collected for research purposes?

Answer every question to see your result.

What does participation involve?

This study is an observational study, which means you won't be given any new treatments or medications. Instead, the researchers will be gathering information about your eye condition over time. This will involve reviewing your medical records and possibly having regular check-ups or appointments where doctors will assess your vision, eye health, and overall development. The study aims to follow participants for up to 10 years to understand how these conditions progress long-term. You won't be asked to do anything that is outside of your usual medical care, but the information collected during your routine visits will be recorded by the study team.

Potential risks and benefits

Taking part in this study could help improve understanding of these rare eye conditions, potentially leading to better care for future patients. There are no known risks from participating, as the study only involves collecting information from your existing medical care and assessments, not trying new treatments. You are free to withdraw from the study at any time without it affecting your medical care.

Locations (1)

RaDiCo-ACOEIL
Verified postcode
Paris, France· Recruiting

Common questions

What does 'congenital' mean?

'Congenital' means that a condition is present from birth.

What is the difference between anophthalmia and microphthalmia?

Anophthalmia means one or both eyes are missing, while microphthalmia means one or both eyes are smaller than usual.

Will I receive new treatments in this study?

No, this is an 'observational' study, meaning researchers will gather information about your condition and usual care, not provide new treatments.

How long will I be followed in the study?

The study aims to follow participants for up to 10 years to understand the long-term effects of these conditions.

Can I leave the study if I change my mind?

Yes, you can withdraw from the study at any time, and it will not affect your medical care.

How to find out more

Nicolas NC CHASSAING, Dr

chassaing.n@chu-toulouse.fr 0033 5 61 77 90 55 Official trial record

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