Chordoma Family Study

NCT00410670 | Completed

• 2 other identifiers: 99990324403-C-N244
• Study Type: observational
• Target: 55
• Locations: 1 country
• Sites: 1

Brief Summary

This pilot study, conducted by the National Cancer Institute and the Massachusetts General Hospital, will investigate genetic factors that contribute to the development of chordoma in people from some families. Chordoma is a very rare, potentially fatal, slow-growing bone tumor derived from remnants of embryonic material. This study will determine the feasibility of conducting a larger study aimed at identifying new families with multiple members affected by chordoma to study the genetic basis of the disease. English-speaking persons diagnosed with chordoma when they were 18 years of age or younger and who were treated at the Massachusetts General Hospital Department of Radiation Oncology between 1988 and the end of the study period may be eligible for this protocol. The age range of these patients is currently from about 5 months to 33 years. Patients (or parents of minor patients) will be mailed a packet with instructions for completing the following procedures at home:

• Provide permission for researchers to obtain medical records relating to the patient's chordoma and any other serious medical conditions he or she has had, and to obtain a piece of the patient's stored tumor tissue.
• Complete a questionnaire about the patient's close blood relatives, including parents, brothers, sisters, and any more distant relatives who have had chordoma or a cancer or tumor which started in the brain or spine. The questionnaire will also include demographic information, such as education, marital status, ethnicity, religion, and household income.
• Collect two samples of cheek cells (only from patients 6 years and older). Patients' packets include instructions and materials for collecting the cells. Parents of children 6 to 9 years old will collect cells from the child's mouth using a sterile soft-bristled brush contained in a tube. They will brush the inside of the child's cheek with the brush for about 30 seconds and then place the brush back in the tube. They will repeat this procedure with a second brush. Patients 10 years of age and older will rinse their mouth for about 45 seconds with a mouthwash provided in their packets and then spit the mouthwash into a collection container. They will repeat the procedure several hours later. All participants will return the signed permission forms, questionnaires, and cheek cell samples to the researchers in a pre-addressed stamped envelope, which is also provided in the packet. ...

Conditions

Chordoma

Keywords

Gene; Genetics; Family History; Radiation Therapy; Children

Outcome Measures

Primary Outcomes (1)

• To assess genetic susceptibility to chordoma

  ongoing

Eligibility Criteria

• Age: 4 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may not qualify if:

• All English-speaking persons diagnosed with chordoma at age 18 years or less either at MGH or elsewhere, and treated by DRO, MGH between 1988 and the end of the study period (n =100). Ages will range from 5 months - 33 years. There is no age limit fo the self-administered questionnaire or the telephone interview because a parent can complete it on behalf of any case who is less than 18 years, but collection of buccal cells will be limited to cases older than or equal to age 6 years.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Related Publications (3)

• Kelley MJ, Korczak JF, Sheridan E, Yang X, Goldstein AM, Parry DM. Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. Am J Hum Genet. 2001 Aug;69(2):454-60. doi: 10.1086/321982. Epub 2001 Jul 10.

  PMID: 11452362 BACKGROUND

• Yang XR, Ng D, Alcorta DA, Liebsch NJ, Sheridan E, Li S, Goldstein AM, Parry DM, Kelley MJ. T (brachyury) gene duplication confers major susceptibility to familial chordoma. Nat Genet. 2009 Nov;41(11):1176-8. doi: 10.1038/ng.454. Epub 2009 Oct 4.

  PMID: 19801981 BACKGROUND

• Kelley MJ, Shi J, Ballew B, Hyland PL, Li WQ, Rotunno M, Alcorta DA, Liebsch NJ, Mitchell J, Bass S, Roberson D, Boland J, Cullen M, He J, Burdette L, Yeager M, Chanock SJ, Parry DM, Goldstein AM, Yang XR. Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. Hum Genet. 2014 Oct;133(10):1289-97. doi: 10.1007/s00439-014-1463-z. Epub 2014 Jul 4.

  PMID: 24990759 BACKGROUND

MeSH Terms

Conditions

Chordoma

Condition Hierarchy (Ancestors)

Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms

Study Officials

• Alisa M Goldstein, Ph.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: RETROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 12, 2006
• First Posted: December 13, 2006
• Study Start: August 1, 2003
• Study Completion: December 29, 2017
• Last Updated: December 17, 2019

Record last verified: 2017-12-29

Locations

US (1)