Calcium Absorption in Patients With Rothmund-Thomson Syndrome

• 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: Baylor College of Medicine
• 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

Participant Flow

Recruitment Details	The isotope tracer is used as a method to evaluate calcium absorption.
Pre-assignment Details

Arm/Group Title	RTS Patients
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

Baseline Characteristics

Arm/Group Title		RTS Patients
Arm/Group Description		Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
Overall Number of Baseline Participants		29
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

Outcome Measures

1. Primary Outcome

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

Outcome Measure Data

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
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)

Adverse Events

Time Frame	1 year
Adverse Event Reporting Description	[Not Specified]
Arm/Group Title	RTS Patients
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%)
Serious Adverse Events
	RTS Patients
	Affected / at Risk (%)
Total	0/29 (0.00%)
Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events	0%
	RTS Patients
	Affected / at Risk (%)
Total	0/29 (0.00%)

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.

More Information

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

• Name/Title: Dr. Steven Abrams
• Organization: Baylor College of Medicine
• Phone: 512-495-4700
• EMail: sabrams@bcm.edu

• 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