We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

Familial Investigations of Childhood Cancer Predisposition (SJFAMILY)

This study is currently recruiting participants.
Verified October 2017 by St. Jude Children's Research Hospital
Sponsor:
ClinicalTrials.gov Identifier:
NCT03050268
First Posted: February 10, 2017
Last Update Posted: October 31, 2017
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
St. Jude Children's Research Hospital
  Purpose

NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.

While it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.

The purpose of this protocol is to identify novel cancer predisposing genes and/or genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.

PRIMARY OBJECTIVE:

  • Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.

SECONDARY OBJECTIVE:

  • Identify novel cancer predisposing genes and/or genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.

Condition
Acute Leukemia Adenomatous Polyposis Adrenocortical Carcinoma AML BAP1 Tumor Predisposition Syndrome Carney Complex Choroid Plexus Carcinoma Constitutional Mismatch Repair Deficiency Syndrome Diamond-Blackfan Anemia DICER1 Syndrome Dyskeratosis Congenita Emberger Syndrome Familial Acute Myeloid Leukaemia Familial Adenomatous Polyposis Fanconi Anemia Familial Cancer Familial Wilms Tumor Familial Neuroblastoma GIST Hereditary Breast and Ovarian Cancer Hereditary Paraganglioma-Pheochromocytoma Syndrome Hodgkin Lymphoma Juvenile Polyposis Li-Fraumeni Syndrome Lynch Syndrome MDS Melanoma Syndrome Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2 Neuroblastoma Neurofibromatosis Type 1 Neurofibromatosis Type II Nevoid Basal Cell Carcinoma Syndrome Non Hodgkin Lymphoma Noonan Syndrome and Other Rasopathy Overgrowth Syndromes Pancreatic Cancer Peutz-Jeghers Syndrome Pheochromocytoma/Paraganglioma PTEN Hamartoma Tumor Syndrome Retinoblastoma Rhabdoid Tumor Predisposition Syndrome Rhabdomyosarcoma Rothmund-Thomson Syndrome Tuberous Sclerosis Von Hippel-Lindau Disease

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Familial Investigations of Childhood Cancer Predisposition

Resource links provided by NLM:

Genetic and Rare Diseases Information Center resources: Lymphosarcoma Fanconi Anemia Congenital Aplastic Anemia Fanconi Syndrome Myeloid Leukemia Acute Myeloid Leukemia Acute Non Lymphoblastic Leukemia Ovarian Cancer Multiple Endocrine Neoplasia Type 1 Familial Adenomatous Polyposis MYH-associated Polyposis Pheochromocytoma Paragangliomas 1 Carotid Body Tumor Hodgkin Lymphoma Adrenocortical Carcinoma Diamond-Blackfan Anemia Neuroblastoma Neurofibromatosis Neurofibroma Neurofibromatosis Type 1 Tuberous Sclerosis Bourneville Syndrome Retinoblastoma Wilms' Tumor Rhabdoid Tumor Neurofibromatosis Type 2 Nevoid Basal Cell Carcinoma Syndrome Li-Fraumeni Syndrome Von Hippel-Lindau Disease Dyskeratosis Congenita Hoyeraal Hreidarsson Syndrome Noonan Syndrome Peutz-Jeghers Syndrome Multiple Endocrine Neoplasia Type 2 Multiple Endocrine Neoplasia Type 2A Carney Complex Choroid Plexus Carcinoma PTEN Hamartoma Tumor Syndrome Turcot Syndrome Rothmund-Thomson Syndrome BAP1 Tumor Predisposition Syndrome DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Juvenile Polyposis Syndrome Hereditary Paraganglioma-pheochromocytoma Deafness-lymphedema-leukemia Syndrome Nephropathic Cystinosis Primary Fanconi Syndrome Neuroepithelioma Soft Tissue Sarcoma Carcinoid Tumor Pure Red Cell Aplasia Heart Tumor Schwannoma
U.S. FDA Resources

Further study details as provided by St. Jude Children's Research Hospital:

Primary Outcome Measures:
  • Identification of novel cancer predisposing genes [ Time Frame: Up to 20 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. Data will be analyzed using annotation and filtering strategies to identify potentially deleterious germline mutations that co-segregate with disease.


Biospecimen Retention:   Samples With DNA
Blood samples and leftover tumor samples.

Estimated Enrollment: 3000
Actual Study Start Date: April 6, 2017
Estimated Study Completion Date: March 31, 2037
Estimated Primary Completion Date: March 31, 2037 (Final data collection date for primary outcome measure)
Detailed Description:

During the study, blood samples will be obtained from participants, as well as medical and family histories. When possible, leftover tumor samples will also be collected. If participants agree to be re-contacted in the future, they will be asked about once each year to update their health information and family history.

A blood sample will be drawn at St. Jude or at a convenient place of the participant's choice. Blood will be stored in the St. Jude Biorepository. The DNA of the samples will be studied to determine if there are changes in specific genes that might explain the cancers in the participant or their family members. When available, and if consent is given by the participant, previously collected and stored leftover tumor samples, bone marrow samples or stored DNA may be analyzed.

Genetic variants of interest include: 1) mutations in known genes that may have escaped detection through prior clinical genetic testing; 2) coding mutations predicted to disrupt protein function, particularly in genes and pathways known to be associated with cancer; 3) potential mutations in regulatory regions of the genome, as predicted by epigenetic studies. In some cases, individuals with known predisposing mutations exhibit milder, more severe or atypical phenotypes. Family members who harbor a predisposing mutation but are discordant for a cancer phenotype will be selected for cellular and genetic studies. These will include DNA sequencing and possibly also creation and analysis of induce pluripotent stem cells (iPSC), transcriptome or epigenetic analysis.

All samples will be identified by a code after removal of all personal identifiable information. Samples will remain in the repository for current and future study.

  Eligibility

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants with cancer and their family members who meet the eligibility criteria shown below.
Criteria

NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown below, you may enroll regardless of the results of your clinical genetic testing.

DEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:

In this protocol, the definition of "Familial Cancer" is met if any of the following is present:

  • An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 50 years of age; OR
  • An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR
  • An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome.

º Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.

INCLUSION CRITERIA:

  • An individual who meets the definition of "Familial Cancer," as above.
  • Blood relatives of an individual with familiar cancer, who are affected or unaffected by cancer.

EXCLUSION CRITERIA:

  • An inability or unwillingness of the research participant or his/her legally authorized representative (LAR) to provide written informed consent.
  • The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA stored in a biorepository.
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT03050268


Contacts
Contact: Chimene Kesserwan, MD 866-278-5833 referralinfo@stjude.org
Contact: Lynn Harrison, MPA 866-278-5833 referralinfo@stjude.org

Locations
United States, Tennessee
St. Jude Children's Research Hospital Recruiting
Memphis, Tennessee, United States, 38105
Contact: Chimene Kesserwan, MD    866-278-5833    referralinfo@stjude.org   
Principal Investigator: Chimene Kesserwan, MD         
Sponsors and Collaborators
St. Jude Children's Research Hospital
Investigators
Principal Investigator: Chimene Kesserwan, MD St. Jude Children's Research Hospital
  More Information

Additional Information:
Responsible Party: St. Jude Children's Research Hospital
ClinicalTrials.gov Identifier: NCT03050268     History of Changes
Other Study ID Numbers: SJFAMILY
First Submitted: February 8, 2017
First Posted: February 10, 2017
Last Update Posted: October 31, 2017
Last Verified: October 2017

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:
Familial cancer
Genetic predisposition
Heritable disease
Cancer risk
Genome analysis
Genetic modifiers
Next generation sequencing (NGS)
Genetic counseling
DNA

Additional relevant MeSH terms:
Anemia
Fanconi Anemia
Anemia, Diamond-Blackfan
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Lymphoma
Syndrome
Leukemia
Carcinoma
Leukemia, Myeloid, Acute
Pancreatic Neoplasms
Lymphoma, Non-Hodgkin
Hodgkin Disease
Neuroblastoma
Neoplasms
Carcinoma, Basal Cell
Rhabdomyosarcoma
Neurofibromatoses
Neurofibroma
Wilms Tumor
Retinoblastoma
Colorectal Neoplasms
Nasopharyngeal Neoplasms
Pheochromocytoma
Neurofibromatosis 1
Fanconi Syndrome
Tuberous Sclerosis
Adrenocortical Carcinoma
Adenomatous Polyposis Coli
Rhabdoid Tumor