The quest to decode the genetic blueprint of developmental disorders
NCT ID NCT06260319
First seen Aug 20, 2026 · Last updated Aug 21, 2026 · Updated 1 time
Summary
This study aims to decode the genetic causes of developmental disorders by analyzing the entire genomes of 720 patients and their relatives. Using whole genome sequencing, researchers hope to identify new genetic variants and understand how they relate to developmental conditions. The project also seeks to validate non-coding DNA changes and develop preclinical models to study disease pathways. This could lead to better diagnosis and a deeper understanding of these disorders.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Whole genome sequencing and bioinformatics analysis
- What this could lead to
- If successful, this could uncover new genetic causes of developmental disorders, potentially leading to better diagnosis and future targeted therapies.
- What could go wrong
- This is an observational study, so it won't directly test treatments. The findings may not immediately translate into clinical benefits, and the genetic variants identified may require further validation.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
720 people
The number who actually took part.
- Started
-
Jan 2019
- Finished
-
Jan 2024
- Lead sponsor
-
A government agency
The lead sponsor is a government body.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Pediatric and adult patients with hereditary diseases and related who have consented to the storage of their biological samples biological samples as part of the Institut Imagine's declared biological Institut Imagine, selected on the basis of the following criteria : \- negative preliminary CGH or WES sequencing data
- Ages
-
1 year to 90 years
- Sex
-
Anyone
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Pediatric and adult patients with hereditary diseases and relatives who have consented to the storage of their biological samples in the Institut Imagine's declared biological collections. * Pediatric and adult patients with hereditary diseases and relatives who have been informed of the research project and who have not objected to the re-use of their data and biological samples samples Exclusion Criteria: \-
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Genetic diseases are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
Institut Imagine
Paris, 75015, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can a digital platform ease the wait for genetic updates?
- Hackathon for the undiagnosed: mayo clinic launches repository to crack rare disease cases
- Gene hunt in children could unlock secrets of rare metabolic diseases
- Hope for duchenne: new drug targets rare gene mutation in phase 3 trial
- New study tracks rare genetic heart condition
- Major study launches to unravel rare genetic diseases affecting immunity and the brain