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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

Study Type Interventional
Study Design Allocation: N/A;   Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Other
Condition Rothmund-Thomson Syndrome
Intervention Other: Calcium stable isotope
Enrollment 29
Recruitment Details The isotope tracer is used as a method to evaluate calcium absorption.
Pre-assignment Details  
Arm/Group Title RTS Patients
Hide Arm/Group Description Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
Period Title: Overall Study
Started 29
Completed 29
Not Completed 0
Arm/Group Title RTS Patients
Hide Arm/Group Description Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
Overall Number of Baseline Participants 29
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 29 participants
<=18 years
20
  69.0%
Between 18 and 65 years
9
  31.0%
>=65 years
0
   0.0%
Age, Continuous  
Median (Full Range)
Unit of measure:  Years
Number Analyzed 29 participants
5
(1 to 49)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 29 participants
Female
16
  55.2%
Male
13
  44.8%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Count of participants
United States Number Analyzed 29 participants
29
1.Primary Outcome
Title Bone Density (Low Areal Bone Mineral Density (aBMD))
Hide Description 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.
Time Frame 8 days
Hide Outcome Measure Data
Hide Analysis Population Description
Areal bone mineral density (aBMD) z-scores of 13 pediatric patients, 9 adult patients. 7 of the patients did not have successful bone density scans to be included in the analysis.
Arm/Group Title RTS Patients
Hide Arm/Group Description:
Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
Overall Number of Participants Analyzed 22
Median (Inter-Quartile Range)
Unit of Measure: z-score
13 pediatric patients, whole body aBMD Number Analyzed 13 participants
-1.3
(-1.6 to -0.4)
9 adult patients, whole body aBMD Number Analyzed 9 participants
-0.9
(-1.2 to 0.94)
13 pediatric patients, lumbar spine aBMD Number Analyzed 13 participants
-2.4
(-2.9 to -1.7)
9 adult patients, lumbar spine aBMD Number Analyzed 9 participants
-1.2
(-1.8 to 0.1)
13 pediatric patients, femoral neck aBMD Number Analyzed 13 participants
-2.4
(-3.3 to -1.1)
9 adult patients, femoral neck aBMD Number Analyzed 9 participants
-0.8
(-1.5 to 0.3)
13 pediatric patients, total hip aBMD Number Analyzed 13 participants
-1.5
(-2.4 to -0.2)
9 adult patients, total hip aBMD Number Analyzed 9 participants
-0.7
(-1.5 to 0.1)
Time Frame 1 year
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title RTS Patients
Hide Arm/Group Description Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
All-Cause Mortality
RTS Patients
Affected / at Risk (%)
Total   0/29 (0.00%) 
Hide Serious Adverse Events
RTS Patients
Affected / at Risk (%)
Total   0/29 (0.00%) 
Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
RTS Patients
Affected / at Risk (%)
Total   0/29 (0.00%) 
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.
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Dr. Steven Abrams
Organization: Baylor College of Medicine
Phone: 512-495-4700
EMail: sabrams@bcm.edu
Layout table for additonal information
Responsible Party: Steve Abrams, MD, Baylor College of Medicine
ClinicalTrials.gov Identifier: NCT01304407    
Other Study ID Numbers: H-27088
R01AR059063 ( U.S. NIH Grant/Contract )
First Submitted: February 23, 2011
First Posted: February 25, 2011
Results First Submitted: March 13, 2017
Results First Posted: July 8, 2020
Last Update Posted: July 23, 2020