Recruiting NA Congenital Malformations

New treatment option for Congenital Malformations

Official title Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality

ClinicalTrials.gov ID: NCT07370792

What this study is testing

What is blood sample?

blood sample is an investigational medicine, being studied as a potential treatment for congenital malformations.

Plain-language explanation of the investigational treatment - it is being studied and is not an approved or proven therapy. The study team can confirm the details.

What it's testing
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).

A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.

Who can take part

Adults

You may be able to join if

  • Patients presenting with at least two congenital anomalies, with or without intellectual disability, and weighing more than 5 kg.
  • Whole-genome sequencing performed by the AURAGEN laboratory deemed non-contributive (absence of class 4 or 5 variants, or identification of a VUS, or...
  • Patient covered by a social security scheme.
  • Patient able to understand and to oppose participation in the study.
  • Written informed consent for genetic analyses, signed either by the patient or by their legal representatives (for minors), after clear and fair...
See the full eligibility criteria
Who can join
  • Patients presenting with at least two congenital anomalies, with or without intellectual disability, and weighing more than 5 kg.
  • Whole-genome sequencing performed by the AURAGEN laboratory deemed non-contributive (absence of class 4 or 5 variants, or identification of a VUS, or identification of only one variant in the context of a recessive...
  • Patient covered by a social security scheme.
  • Patient able to understand and to oppose participation in the study.
  • Written informed consent for genetic analyses, signed either by the patient or by their legal representatives (for minors), after clear and fair information about the study has been provided. Non- Patients for whom a...
  • Inability to obtain a compliant sample.
  • Patient or holder of parental authority under guardianship or legal protection, deprived of liberty, or placed under court-ordered protection.

The study team makes the final eligibility decision.

Where it's taking place

  • Clermont-Ferrand, France

Questions & answers

Do participants get paid in this trial?

This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.

Is it free to join, and do I need insurance?

Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.

How long does this study last?

The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.

Who can join this trial?

This study is enrolling all sexes, not specified. The study team makes the final eligibility decision.

Where is this trial taking place?

Study sites include Clermont-Ferrand, France. Enter your location above to see the nearest site and check your eligibility.

Explore other conditions

BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.