NCT01304407

Brief Summary

Osteosarcoma is the most common malignant bone tumor in children and adolescents. Because cure rates for osteosarcoma have remained stagnant for the past several decades despite numerous trials of chemotherapy agents, novel therapies based on the understanding of the molecular pathogenesis of osteosarcoma are needed. Rothmund-Thomson Syndrome (RTS) is a genetic disorder affecting many parts of the body and resulting in major skeletal abnormalities. This disease also has the propensity to increase the risk of developing cancer, particularly osteosarcoma. Two-thirds of RTS patients have a high risk of developing osteosarcoma. Therefore, it is important to understand the impact of RTS on the skeletal phenotype (as measured by bone density) in order to develop effective therapies to battle osteosarcoma.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
29

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Mar 2011

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 23, 2011

Completed
2 days until next milestone

First Posted

Study publicly available on registry

February 25, 2011

Completed
4 days until next milestone

Study Start

First participant enrolled

March 1, 2011

Completed
4.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2015

Completed
1.3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2017

Completed
3.4 years until next milestone

Results Posted

Study results publicly available

July 8, 2020

Completed
Last Updated

July 23, 2020

Status Verified

July 1, 2020

Enrollment Period

4.6 years

First QC Date

February 23, 2011

Results QC Date

March 13, 2017

Last Update Submit

July 9, 2020

Conditions

Rothmund-Thomson Syndrome

Keywords

Rothmund-Thomson SyndromeCalcium absorptionBone density

Outcome Measures

Primary Outcomes (1)

  • Bone Density (Low Areal Bone Mineral Density (aBMD))

    Individuals had low areal bone mineral density (aBMD) assessed by DXA using a Hologic Delphi-A instrument (Bedford, MA) at the Body Composition Laboratory of the Children's Nutrition Research Center, Houston, TX. Scans were performed of the whole body, lumbar spine, and proximal femur. Bone mineral content (BMC), bone area, and BMD were measured using Hologic Discovery V12.1 analysis software. For adult subjects, BMD Z-scores of the whole body, lumbar spine, left total hip, and left femoral neck were calculated using the Hologic Reference Database. Validated age- and sex-matched control data from the pediatric population generated by the Body Composition Laboratory of the Children's Nutrition Research Center, Houston, TX were used to calculate the Z-scores for pediatric subjects as previously published.

    8 days

Study Arms (1)

RTS Subjects, Calcium Isotope

OTHER

Subjects consume breakfast and 180 ml of calcium-fortified orange juice to which 20 mg of 46Ca stable isotope was added. Immediately after breakfast, subjects receive 5 mg of 42Ca intravenously.

Other: Calcium stable isotope

Interventions

Calcium stable isotopeOTHER

Subjects consume breakfast and 180 ml of calcium-fortified orange juice to which 20 mg of 46Ca stable isotope was added. Immediately after breakfast, subjects receive 5 mg of 42Ca intravenously.

RTS Subjects, Calcium Isotope

Eligibility Criteria

Age4 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Patients at least four years of age who have been diagnosed clinically with RTS by a physician.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Baylor College of Medicine / Texas Children's Hospital

Houston, Texas, 77030, United States

Location

MeSH Terms

Conditions

Rothmund-Thomson Syndrome

Condition Hierarchy (Ancestors)

Skin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornInfant, Newborn, DiseasesSkin DiseasesSkin and Connective Tissue DiseasesDNA Repair-Deficiency DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Limitations and Caveats

Single measurement of bone density is less informative than serial measurements. Individuals with RTS are typically below the 5th percentile for height, and thus age adjusted Z-scores may overestimate the magnitude of low bone mass.

Results Point of Contact

Title
Dr. Steven Abrams
Organization
Baylor College of Medicine
sabrams@bcm.edu
512-495-4700

Study Officials

  • Lisa Wang, MD

    Baylor College of Medicine

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
No
Restrictive Agreement
No

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

February 23, 2011

First Posted

February 25, 2011

Study Start

March 1, 2011

Primary Completion

October 1, 2015

Study Completion

February 1, 2017

Last Updated

July 23, 2020

Results First Posted

July 8, 2020

Record last verified: 2020-07

Locations

US(1)