Using advanced genome mapping to improve diagnosis of neurodevelopmental disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to enhance the diagnostic yield for pediatric neurodevelopmental disorders by utilizing Optical Genome Mapping (OGM) in conjunction with Next-Generation Sequencing (NGS). It focuses on children who have previously tested negative for standard genetic tests, offering a more comprehensive analysis of their genetic variants. By detecting structural variants that traditional methods may miss, the study seeks to provide clearer insights into the genetic underpinnings of these disorders. The project will involve 60 children with severe neurodevelopmental conditions to assess the effectiveness of this combined approach.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* individuals without a molecular diagnosis (negative to ES/CMA analyses);
* individuals with genetic diagnoses that explain only one component of their primary phenotype;
* individuals carrying one or more variants of uncertain clinical significance
* individuals with a phenotype highly reminiscent of clinically and molecularly well-defined syndromes (i.e., Marfan Syndrome) but negative to routine molecular analysis.

Exclusion Criteria:

* individuals who have not undergone initial diagnostic genetic tests (ES/CMA)

Where it's running

• Cytogenetic Unit of Medical Genetic Laboratory
  Bosisio Parini, Lecco, Italy Recruiting

Study contacts

• Study coordinator: Maria Clara Bonaglia PhD
• Email: mariaclara.bonaglia@lanostrafamiglia.it
• Phone: +39 031 877913

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.