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Genetic Study of Families With High Frequency of Hodgkin Lymphoma

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02795013
Recruitment Status : Completed
First Posted : June 9, 2016
Last Update Posted : September 13, 2018
HudsonAlpha Institute for Biotechnology
Information provided by (Responsible Party):
St. Jude Children's Research Hospital

Brief Summary:

Hodgkin lymphoma (HL) is a relatively rare disorder with known familiar aggregation (i.e. HL in more than one child, or parent and child). Because affected individuals in familial HL are genetically related, the existence of such families has long been considered as evidence in support of a genetic basis of HL susceptibility. However, it is largely unknown which genetic variations are responsible for recurring HL in families. Because the effects of genetic variants are likely to be strong in familial HL, identification of such variations will potentially reveal biological pathways critical to the pathogenesis of HL.


  • To perform genome-wide sequencing of families with recurring Hodgkin lymphoma cases (affected as well as non-affected family members) to identify potential disease-causing germline genetic variations.


  • To describe demographic and clinical features of the affected families.

Condition or disease
Hodgkin Lymphoma

Detailed Description:

This study entails a clinical interview and submission of a peripheral blood or saliva sample for non-tumor DNA. Participants diagnosed with HL at outside institutions will be requested to sign a release form to allow the outside institution to send their pathology report confirming their HL diagnosis. If available, previously banked tumor tissue samples will be utilized to assess genetic alterations related to HL. Detailed history will be obtained (e.g., demographics, environmental exposures, cancer risk factors, and family pedigree) to facilitate the analysis of phenotype-genotype correlations, taking into account potential confounding factors.

Investigators will examine the germline and possibly the tumor DNA of each individual participant and use the data from all participants to determine if a gene change is related to HL.

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Study Type : Observational
Actual Enrollment : 27 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Genetic Study of Families With High Frequency of Hodgkin Lymphoma
Actual Study Start Date : August 17, 2016
Actual Primary Completion Date : February 27, 2018
Actual Study Completion Date : February 27, 2018

Resource links provided by the National Library of Medicine

Participants with Hodgkin Lymphoma
Those with a confirmed diagnosis of Hodgkin Lymphoma (HL) and family members who consent and enroll in this study.
Family Members without Hodgkin Lymphoma
Those unaffected by HL will serve as a control group to compare with those with HL.

Primary Outcome Measures :
  1. Germline genetic variations [ Time Frame: Once, within 1 month of enrollment ]
    Whole exome sequencing of affected and unaffected individuals in these families will be performed. Genetic variants potentially related to HL will be identified on the basis of its co-segregation with HL disease status (e.g., unique variants in individuals affected by HL would be considered as risk variants). Family members without HL (regardless of any other history of malignancy) will be considered as control and be compared against members with HL.

Biospecimen Retention:   Samples With DNA
Saliva, minimal blood, or tumor will be retained for whole exome sequencing.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a confirmed diagnosis of Hodgkin Lymphoma (HL), and family members of the patient, either affected or unaffected by a malignancy.

Inclusion Criteria:

  • Patient with HL diagnosed ≤ 21 years of age with a first-degree relative also diagnosed with HL.
  • Family members of the patient, either affected or unaffected by a malignancy who agree to participate in the study.
  • Research participant or legal guardian, as appropriate, must provide informed consent for this protocol.

Exclusion Criteria:

  • Inability or unwillingness of research participant or legal guardian/representative to give written informed consent.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02795013

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United States, Tennessee
St. Jude Children's Research Hospital
Memphis, Tennessee, United States, 38105
Sponsors and Collaborators
St. Jude Children's Research Hospital
HudsonAlpha Institute for Biotechnology
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Principal Investigator: Jamie Flerlage, MD St. Jude Children's Research Hospital
Additional Information:
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Responsible Party: St. Jude Children's Research Hospital Identifier: NCT02795013    
Other Study ID Numbers: FAMHL
First Posted: June 9, 2016    Key Record Dates
Last Update Posted: September 13, 2018
Last Verified: September 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by St. Jude Children's Research Hospital:
Genetic studies
Additional relevant MeSH terms:
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Hodgkin Disease
Neoplasms by Histologic Type
Lymphoproliferative Disorders
Lymphatic Diseases
Immunoproliferative Disorders
Immune System Diseases