Genetic Study of Familial Acute Lymphoblastic Leukemia

Familial aggregation is well recognized in some cancers. Though a number of familial cancer predisposition syndromes have been described, the nature of inherited genetic alterations in patients with a strong history of familial cancer is currently unknown, as is the case with childhood acute lymphoblastic leukemia (ALL).

The investigators are seeking to learn more about what causes leukemia and why some people and families may be at a higher risk of developing this disease. By understanding the origin of the disease, better treatments may be identified for patients with leukemia.

PRIMARY OBJECTIVE: To identify variants in genes that are inherited, have altered gene structure and/or function, and influence the risk of developing acute lymphoblastic leukemia (ALL) and other cancers.

SECONDARY OBJECTIVE: To collect demographic, clinical and laboratory information including detailed family cancer history and response of cancers to therapy for correlation with the primary objective.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Acute Lymphoblastic Leukemia (ALL) Disease Attributes Disease Susceptibility Genetic Predisposition to Disease Hematologic Diseases Hemic and Lymphatic Diseases Immune System Diseases Immunoproliferative Disorders Leukemia Leukemia, Lymphoid Lymphatic Diseases Lymphoproliferative Disorders Neoplasms Neoplasms by Histologic Type Pathologic Processes Pathological Conditions, Signs and Symptoms Precursor Cell Lymphoblastic Leukemia-Lymphoma

Sex eligibility

All sexes

Study type

Observational

Primary location

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

About this study

This study entails clinical interviews, submission of a peripheral germline blood sample for non-tumor DNA and permission to perform biologic studies on previously stored tumor tissue if applicable and available. Participants diagnosed with cancer at outside institutions will be requested to sign a release form to allow the outside institution to send germline and/or tumor tissue to St Jude if available. For patients who have undergone a stem cell transplant, a buccal swab or saliva sample will be requested (for germline DNA). For patients with active leukemia, non-tumor cells (for germline DNA) may be obtained using a remission blood sample, a skin biopsy (to obtain fibroblasts) or may be purified by fluorescence activated cell sorting of leukemia samples. The skin biopsy will be obtained in participants 18 years of age and older. In participants less than 18 years, the skin biopsy will be accessed only if it was already collected as part of another research protocol or for clinical care.

All patients being considered for enrollment will have a clinical genetics consult by one of the study team members at which time a family history will be taken and information about genomic testing will be introduced. Detailed medical history will be obtained which includes but is not limited to demographics, clinical data including laboratory results, cancer history/diagnosis, treatment outcomes, environmental exposures and cancer risk factors to enable phenotype/genotype correlations.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Patient with acute lymphoblastic leukemia (ALL) and has a relative also diagnosed with ALL. Note: There is no upper age limit, and the index ALL case does not have to be a patient diagnosed and/or treated at St. Jude.
Family members of the patient, either affected or unaffected by a malignancy, who are contacted by the patient (or guardian) and agree to participate in the study. Relatives may have been diagnosed with other malignant, genetic or developmental disorders.
Research participant or legal guardian, as appropriate, must provide informed consent for this protocol.

Treatment and study plan

Primary outcomes

Identification of novel cancer predisposing genes

Time frame: Up to 10 years following study activation

Probands and cancer affected and unaffected relatives from selected families will be sequenced using Whole Genome Sequencing (WGS) or possibly Whole Exome Sequencing (WES) and analyzed to identify new predisposing genetic variants that co-segregate with the tumor phenotype.

Sponsors and collaborators

Lead sponsor

St. Jude Children's Research Hospital

Other

Registry information

Important dates

Study start: 2017
Primary completion: 2017
Study completion: 2017
First posted: Mar 1, 2017
Registry last updated: Dec 11, 2019

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

View the official ClinicalTrials.gov record (opens in a new tab)

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.

Published trials that share one or more normalized conditions with this study.

Completed