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Trial record 1 of 2 for:    "Rothmund Thomson syndrome"
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Calcium Absorption in Patients With Rothmund-Thomson Syndrome

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified March 2015 by Baylor College of Medicine.
Recruitment status was:  Enrolling by invitation
USDA Beltsville Human Nutrition Research Center
National Institutes of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Gilson Lowenbaugh Foundation
Information provided by (Responsible Party):
Steve Abrams, MD, Baylor College of Medicine Identifier:
First received: February 23, 2011
Last updated: March 25, 2015
Last verified: March 2015
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 calcium absorption and bone mineralization) in order to develop effective therapies to battle osteosarcoma.

Rothmund-Thomson Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Evaluation of Calcium Absorption in Patients With Rothmund-Thomson Syndrome

Resource links provided by NLM:

Further study details as provided by Baylor College of Medicine:

Primary Outcome Measures:
  • To characterize the human skeletal phenotype of RTS [ Time Frame: Study Day (inpatient for 24 hrs) plus 7 days of home urine collections ]
    To characterize the human skeletal phenotype of RTS through detailed clinical evaluation of Rothmund-Thomson patients by examining them and performing bone specific studies including IV calcium bone deposition studies.

Secondary Outcome Measures:
  • To understand the bone-specific consequences of RTS [ Time Frame: Study Day (inpatient for 24 hrs) plus 7 days of home urine collections ]
    To understand the bone-specific consequences of RTS and how that plays a role in the development of osteosarcoma and bone disease, including osteoporosis, in order to devise more specific therapies for osteosarcoma.

Estimated Enrollment: 20
Study Start Date: March 2011
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Detailed Description:

This is a laboratory experiment to evaluate bone calcium deposition in patients with Rothmund-Thomson Syndrome (RTS).

This study includes one study visit during which subjects will be admitted to the inpatient unit in the Pediatric GCRC at TCH where they will undergo comprehensive clinical evaluations by a team of physicians familiar with RTS as well as bone-specific studies divided into four parts. Procedures for this study may be combined with procedures for H-9106, another protocol for patients with RTS by Dr. Wang.

Subjects will arrive at the GCRC at TCH after an overnight fast. Per TCH pain management protocols, numbing creams and sprays will be offered to the subject prior to the blood draw. Tylenol per TCH pain protocol is allowed. All food and beverages consumed at the GCRC will be pre-arranged by the study dietitian and weighed by the GCRC nutrition staff. Additional food is not allowed unless approved by the study dietitian.

Subjects will be asked to provide a 3-day written dietary history as well as food preferences for the GCRC study day. For the first meal of the study day, subjects will consume 180 mL of low-fat milk or orange juice to which 20 micrograms of 46Ca will have been added. (If milk is used as the vehicle for the isotope, the 46Ca will be added 18-24 hours in advance.)

Immediately after breakfast, subjects will receive 5 mg of 42Ca intravenously over 2-3 minutes. The beginning of this infusion will serve as Time 0. After the infusion is complete, the catheter hub will be changed in preparation for the subsequent blood draws. Samples for calcium isotope ratio measurement (0.5 ml of whole blood) will be obtained at 6, 12, 20, 40, 120, 180, 240, and 480 minutes after the infusion.

GCRC will provide weighed diets for the study day as directed by the study dietitian. Each meal should contain approximately 300 mg of calcium and each snack should provide negligible calcium. A complete 24-hour urine collection in 8 hour aliquots will be performed while at the GCRC starting with the first void after the isotopes are given.

After completion of this 24 hour period, the subjects will be discharged. They will continue to collect all of their urine in 8 hour aliquots for an additional 24 hours and then will collect three spot urine samples each day for the next 6 days. These samples will then be mailed to the CNRC research laboratory of Dr. Steven Abrams where they will be analyzed for isotope ratios by mass spectrometry analysis.

Upon discharge, subjects will receive a food scale and instruction sheets on recording their dietary intake for the next 3 days (i.e., weighed food record). While inpatient, the study dietitian will instruct the family on the guidelines for recording this intake. After the 3 days, the food scale and records will be returned to the CNRC for analysis.


Ages Eligible for Study:   4 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Rothmund-Thomson Syndrome (RTS)

Inclusion Criteria:

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

Exclusion Criteria:

  • Any person who does not meet the inclusion criteria.
  Contacts and Locations
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Please refer to this study by its identifier: NCT01304407

United States, Texas
Baylor College of Medicine / Texas Children's Hospital
Houston, Texas, United States, 77030
Sponsors and Collaborators
Baylor College of Medicine
USDA Beltsville Human Nutrition Research Center
National Institutes of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Gilson Lowenbaugh Foundation
Principal Investigator: Lisa Wang, MD Baylor College of Medicine
  More Information

Responsible Party: Steve Abrams, MD, Professor, Baylor College of Medicine Identifier: NCT01304407     History of Changes
Other Study ID Numbers: H-27088
R01AR059063 ( US NIH Grant/Contract Award Number )
Study First Received: February 23, 2011
Last Updated: March 25, 2015

Keywords provided by Baylor College of Medicine:
Rothmund-Thomson Syndrome
Calcium absorption
Bone density

Additional relevant MeSH terms:
Rothmund-Thomson Syndrome
Pathologic Processes
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Skin Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Calcium, Dietary
Bone Density Conservation Agents
Physiological Effects of Drugs processed this record on May 22, 2017