Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes

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. Identifier: NCT01200680
Recruitment Status : Recruiting
First Posted : September 13, 2010
Last Update Posted : August 16, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Brief Summary:


Chordoma is a rare, slow growing, often fatal bone cancer derived from remnants of the embryonic notochord. It occurs mostly in the axial skeleton (skull base, vertebrae, sacrum and coccyx), is more frequent in males than females, and has a median age at diagnosis of 58.5 years, with a wide age range. This typically sporadic tumor is often advanced at presentation, and mortality is high due to local recurrence or distant metastases. The usual treatment is surgery, followed by adjuvant radiation therapy. Chemotherapy has not had a significant treatment role. Reports of a small number of families worldwide with two or more relatives with chordoma support a role for susceptibility genes in chordoma etiology. Recently we determined that duplications of the T gene co-segregated with disease in four multiplex chordoma families. The T gene encodes brachyury, a tissue-specific transcription factor that is expressed in notochord cells and is essential for formation and maintenance of the notochord. Some of the other chordoma families that we studied did not have T-gene duplications; the aggregation of chordomas in these families may result from changes in other susceptibility genes or other types of mutations targeting the T gene. We are continuing gene identification studies of multiplex chordoma families at the NIH Clinical Center under protocol 78-C-0039. We also want to determine whether alterations in any identified chordoma susceptibility genes are associated with sporadic chordoma in the general population.


The major goal of this protocol is to identify sporadic chordoma patients willing to provide germline and tumor DNA for studies to determine the frequency of alterations in chordoma susceptibility genes. Our previous protocols with SEER and Massachusetts General Hospital to identify chordoma patients were limited to residents of specific geographic regions in the U.S. (2 states and 2 metropolitan areas) or to patients with pediatric skull base tumors. This protocol will enroll patients who more broadly represent the age, site and gender distributions of sporadic chordoma in the general U.S. population.


Eligible patients are males and females in the U.S. with chordoma diagnosed at any age and at any primary site. Because we want to obtain saliva from all participants, eligibility is limited to patients who will be greater than or equal to age 6 years at the time of enrollment.


The study description and contacting information including an e-mail link to the study contact person will be posted on web sites of two chordoma support groups. We will mail study information to be given to patients to colleagues at major medical centers that treat chordoma.

The components of the study will be carried out in subjects' homes using materials mailed to them. Up to 100 participants will: 1) complete a self-administered Personal and Family Medical History Questionnaire, 2) collect saliva using a saliva collection kit, and 3) provide permission to obtain medical/pathology records, and paraffin blocks or slides on each primary chordoma. Parents will serve as proxies for minor children.

We will recontact patients who report chordoma in at least one blood relative. If we confirm the relative's chordoma diagnosis, we will invite the study subject and selected family members to participate in clinical and gene mapping studies under protocol 78-C-0039. We may also recontact study participants to tell them about any new studies on chordoma etiology. They can decide at that time whether they want to participate in them.


Condition or disease
Genes Sporadic Chordoma

Show Show detailed description

Layout table for study information
Study Type : Observational
Estimated Enrollment : 400 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes
Actual Study Start Date : January 2, 2011

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Chordoma

chordoma cohort
Chordoma patients

Primary Outcome Measures :
  1. To determine the frequency of alterations in chordoma susceptibility genes in the general population [ Time Frame: Multiple/ongoing ]
    - Susceptibility genes for Chordoma - Association between age at dx/Chordoma subtype and genetic risk factors

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.

Layout table for eligibility information
Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Eligible subjects include male and female patients diagnosed with Chordoma after 6 years of age. Participants may be located throughout the United States and Canada. The sample is a non-probability sample and eligible patients with Chordoma complete all study related activities by mail, after initial contact and determination of eligibility.
  • To be eligible subjects must be at least 6 years old at the time of enrollment, be the only person in their family ever diagnosed with chordoma, and reside in the U.S or Canada.
  • Chordoma in the patients can have been diagnosed at any age and any primary site.

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): NCT01200680

Layout table for location contacts
Contact: Stephanie M Steinbart, R.N. (800) 518-8474
Contact: Alisa M Goldstein, Ph.D. (301) 496-4375

Layout table for location information
United States, Maryland
Westat, Inc. Recruiting
Rockville, Maryland, United States, 20850
Contact: Sara Glashofer    301-738-8366   
Sponsors and Collaborators
National Cancer Institute (NCI)
Layout table for investigator information
Principal Investigator: Alisa M Goldstein, Ph.D. National Cancer Institute (NCI)
Layout table for additonal information
Responsible Party: National Cancer Institute (NCI) Identifier: NCT01200680    
Other Study ID Numbers: 999910188
First Posted: September 13, 2010    Key Record Dates
Last Update Posted: August 16, 2022
Last Verified: August 12, 2022

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Pediatric and Adult
Gene Identification
Rare Bone Cancer
All Chordoma Sites
Natural History
Additional relevant MeSH terms:
Layout table for MeSH terms
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type