Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia

Background. Cancer is the leading cause of death by disease in children. Most pediatric tumors differ from adult tumors in terms of biological and clinical characteristics. In children, the part of genetic determinism could be higher since the role of environmental factors may be less pronounced than in adults and that a young age at onset is a main feature of genetic cancer predisposition. Recent studies suggested that a number of genetic predisposition remains to be characterized.

Methods. Trio-Based whole exome sequencing of germline DNA from patients (children and adults diagnosed with cancers between 0 and 17 years) and parents will be performed prospectively in a multicentric study including 40 unselected cases of malignant tumor. Participating hospitals will include the CHU of Montpellier, the CHU de Nice and the AP-HP. Tumor analysis will include whole exome analysis and transcriptome for the identification of therapeutic target and contribute to confirm potential link between constitutive mutations and tumor phenotype (such as loss of expression, loss of heterozygosity).

Perspectives. This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.

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Key information

Conditions

Pediatric Tumor Familial Cancer Hematologic Diseases Hematologic Neoplasms Hematological Tumor Hemic and Lymphatic Diseases Neoplasms Neoplasms by Site Solid Tumor, Childhood

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Montpellier

Montpellier, Occitanie, 34295, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

The patient has a solid or haematological malignancy, either familial forms or isolated cases diagnosed between the ages of 0 and 17 years.
The minor patient and both biological parents are available to participate in the study OR
The adult patient and one or both parents are available to participate in the study.
The patient's parents must have given their free and informed consent and signed the consent for the minor's participation in the study.
The patient's parent(s) must have given free and informed consent and the patient of legal age must have signed the consent for participation in the study.
The patient must be affiliated or beneficiary of a Frrench social security scheme.

Exclusion criteria

The patient's parents are under guardianship or trusteeship or under legal protection Yes No
Failure to obtain written informed consent from parents (for themselves and their minor child) after a period of reflection Yes No
No affiliation to or beneficiary of a French social security scheme (for biological parents and the patient)

Treatment and study plan

Exome sequencing in pediatrics cancers

Genetic

This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.

Primary outcomes

Identification of genetic variants and confirmation of the causality of these variants for the patient's pathology whole exome sequencing

Time frame: 12 months

A blood sample will be taken from patients and their parents in order to carry out genetic analyses.

New generation NGS Exome sequencing in trio (patient and 2 healthy parents) on an Illumina HiSeq 2000 platform using the SureSelectXT Human All Exon 50Mb, V5 kit.

Bioinformatics analysis of the data. Confirmation of mutations by Sanger sequencing (gold standard).

In case of identification of mutations in candidate genes confirmed by Sanger sequencing, we will perform functional and clinical-genetic studies.

Sponsors and collaborators

Lead sponsor

University Hospital, Montpellier

Other

Collaborators

Soroptimist association of Monaco

Registry information

Acronym: ALADIN

Important dates

Study start: 2020
Primary completion: 2025
Study completion: 2026
First posted: Jul 15, 2020
Registry last updated: Jun 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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