RecruitingNAINTERVENTIONAL

Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities

This study is investigating new technologies called 'optical genome mapping' and 'long read sequencing'. These advanced tests look closely at a person's chromosomes, which are like instruction manuals for our bodies. The aim is to see if these new tests can give a clearer picture of genetic differences that might lead to problems like infertility, learning disabilities, birth defects, or repeated miscarriages. Currently, older tests can miss some important details. Researchers want to find out if these new methods are better at detecting these subtle changes, potentially offering more answers for people who haven't received a clear diagnosis yet. It's about finding more comprehensive ways to understand genetic health.

At a glance

Status

Recruiting

Phase

Sponsor

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

Enrolment target

400

Start

26 Sep 2022

Estimated completion

26 Jun 2026

Infertility Intellectual Disability Malformation Miscarriage

What is this study about?

Chromosomes are tiny structures in our cells that carry all our genetic information, like a detailed instruction book for our bodies. Sometimes, there can be tiny changes or 'spelling mistakes' in these instruction books. These changes, known as chromosome abnormalities, can sometimes explain why someone might experience challenges such as infertility, learning difficulties (like intellectual disability), birth defects, or repeated miscarriages.

Current tests, like karyotyping and chromosomal microarrays (CMAs), are often used first. Karyotyping looks at the overall number and large structure of chromosomes. While good for some issues, it can miss very small changes. CMAs are more detailed but can't see certain types of changes where sections of chromosomes are swapped without any genetic material being lost or gained. This means that many people still don't get a clear answer about their condition.

This study is exploring two exciting new technologies: 'optical genome mapping' and 'long read sequencing'. Think of these as super-powered magnifying glasses that can read the 'instruction book' of your chromosomes in much finer detail. They aim to overcome the limitations of older tests by providing a much higher-resolution view, potentially spotting problems that current methods can't. The researchers want to compare these new tests to the standard ones to see if they can provide more complete answers and new diagnoses for people.

Key takeaways

Tests new genetic technologies for better diagnoses.
Focuses on infertility, learning difficulties, birth defects, and miscarriages.
Aims to find clearer answers than current standard tests.
Uses a blood sample you'd already give for routine care.
Participation helps future patients, not your immediate diagnosis.

Who may be eligible?

You might be able to take part in this study if you are undergoing chromosome analysis because of infertility, learning difficulties, or birth defects. The study is open to people of all ages.

However, there are certain situations where you wouldn't be able to join. For example, if your learning difficulties are thought to be due to complications during birth (like a lack of oxygen), or if you are a baby weighing less than 5kg. If you have a specific type of infertility called 'obstructive azoospermia', you also wouldn't be included.

It's very important that the blood sample collected meets specific requirements, such as using the correct tube and having enough blood. Also, if you're a parent of a child taking part, both parents generally need to give consent for research, unless there are unique legal circumstances.

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.

Are you having a genetic test because of infertility, learning difficulties, or birth defects?
Is your weight 5kg or more (if you are a child)?
Is your learning difficulty not primarily due to birth complications like lack of oxygen?
Do you not have a specific type of infertility called 'obstructive azoospermia'?
Are you (or both parents, if you are a child) able to provide consent for research?

Answer every question to see your result.

What does participation involve?

This study is primarily about analysing a blood sample that you would already be giving for your regular chromosome tests. You won't need to take any new medications or attend extra clinic visits specifically for this study. The research team will use a portion of this existing blood sample to conduct the new optical genome mapping and long read sequencing tests. There is no additional follow-up required beyond your routine medical care. The duration of your involvement is simply the time it takes to provide your blood sample as part of your standard diagnostic process.

Potential risks and benefits

The potential benefits of participating in this study are indirect. While you won't personally receive the results from these new experimental tests, your participation will help doctors learn whether these advanced methods can provide better answers for future patients facing similar conditions. There are minimal direct risks to you, as the study uses a blood sample already being taken for your usual care. You have the right to withdraw from the study at any time without affecting your medical treatment or relationship with your healthcare providers. Your decision to participate or not is entirely yours.

Locations (1)

Cochin APHP
Verified postcode
Paris, France· Recruiting

Common questions

What are chromosomes and why are they important?

Chromosomes are like instruction manuals inside our cells that contain all the genetic information that makes us who we are. They are important because changes in them can sometimes affect our health or development.

What is the study hoping to achieve?

The study aims to see if new, more detailed genetic tests can find causes for infertility, learning difficulties, or birth defects that current standard tests might miss.

Will I get results from these new tests?

No, you will not receive results from these particular new tests directly. They are being evaluated for future use, and your participation helps research, not your immediate diagnosis.

Do I need to do anything extra if I join?

No, your participation primarily uses a blood sample that you would already be giving for your routine medical check-ups. There are no extra visits or medications.

Will joining the study affect my current medical care?

No, joining or not joining the study will not affect the medical care you receive from your doctors.

How to find out more

Dr Laila EL KHATTABI

laila.el-khattabi@aphp.fr 01 58 41 35 29 Official trial record

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