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Calcium Absorption in Patients With Rothmund-Thomson Syndrome

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ClinicalTrials.gov Identifier: NCT01304407
Recruitment Status : Completed
First Posted : February 25, 2011
Results First Posted : July 8, 2020
Last Update Posted : July 23, 2020
Sponsor:
Collaborators:
United States Department of Agriculture (USDA)
National Institutes of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Gillson-Longenbaugh Foundation
Information provided by (Responsible Party):
Steve Abrams, MD, Baylor College of Medicine

Tracking Information
First Submitted Date  ICMJE February 23, 2011
First Posted Date  ICMJE February 25, 2011
Results First Submitted Date  ICMJE March 13, 2017
Results First Posted Date  ICMJE July 8, 2020
Last Update Posted Date July 23, 2020
Study Start Date  ICMJE March 2011
Actual Primary Completion Date October 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: June 24, 2020)
Bone Density (Low Areal Bone Mineral Density (aBMD)) [ Time Frame: 8 days ]
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.
Original Primary Outcome Measures  ICMJE
 (submitted: February 24, 2011)
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.
Change History
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE
 (submitted: February 24, 2011)
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.
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Calcium Absorption in Patients With Rothmund-Thomson Syndrome
Official Title  ICMJE Evaluation of Calcium Absorption in Patients With Rothmund-Thomson Syndrome
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.
Detailed Description

This is an evaluation of 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.

Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Other
Condition  ICMJE Rothmund-Thomson Syndrome
Intervention  ICMJE Other: Calcium stable isotope
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.
Study Arms  ICMJE RTS Subjects, Calcium Isotope
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.
Intervention: Other: Calcium stable isotope
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: June 24, 2020)
29
Original Estimated Enrollment  ICMJE
 (submitted: February 24, 2011)
20
Actual Study Completion Date  ICMJE February 2017
Actual Primary Completion Date October 2015   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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.
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 4 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT01304407
Other Study ID Numbers  ICMJE H-27088
R01AR059063 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Steve Abrams, MD, Baylor College of Medicine
Study Sponsor  ICMJE Baylor College of Medicine
Collaborators  ICMJE
  • United States Department of Agriculture (USDA)
  • National Institutes of Health (NIH)
  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
  • Gillson-Longenbaugh Foundation
Investigators  ICMJE
Principal Investigator: Lisa Wang, MD Baylor College of Medicine
PRS Account Baylor College of Medicine
Verification Date July 2020

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP