Trial Outcomes & Findings for Calcium Absorption in Patients With Rothmund-Thomson Syndrome (NCT NCT01304407)

Last Updated: 2020-07-23

Results Overview

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.

Recruitment status

COMPLETED

Study phase

Target enrollment

29 participants

Primary outcome timeframe

8 days

Results posted on

2020-07-23

Participant Flow

The isotope tracer is used as a method to evaluate calcium absorption.

Participant milestones

Participant milestones
Measure	RTS Patients Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
Overall Study STARTED	29
Overall Study COMPLETED	29
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Calcium Absorption in Patients With Rothmund-Thomson Syndrome

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	RTS Patients n=29 Participants Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
Age, Categorical <=18 years	20 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	9 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Age, Continuous	5 years n=5 Participants
Sex: Female, Male Female	16 Participants n=5 Participants
Sex: Female, Male Male	13 Participants n=5 Participants
Region of Enrollment United States	29 count of participants n=5 Participants

PRIMARY outcome

Timeframe: 8 days

Population: 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.

Outcome measures

Outcome measures
Measure	RTS Patients n=22 Participants Rothmond-Thompson patients receiving 5 mg 42Ca, 46Ca stable isotopes to evaluate bone calcium deposition
Bone Density (Low Areal Bone Mineral Density (aBMD)) 13 pediatric patients, whole body aBMD	-1.3 z-score Interval -1.6 to -0.4
Bone Density (Low Areal Bone Mineral Density (aBMD)) 9 adult patients, whole body aBMD	-0.9 z-score Interval -1.2 to 0.94
Bone Density (Low Areal Bone Mineral Density (aBMD)) 13 pediatric patients, lumbar spine aBMD	-2.4 z-score Interval -2.9 to -1.7
Bone Density (Low Areal Bone Mineral Density (aBMD)) 9 adult patients, lumbar spine aBMD	-1.2 z-score Interval -1.8 to 0.1
Bone Density (Low Areal Bone Mineral Density (aBMD)) 13 pediatric patients, femoral neck aBMD	-2.4 z-score Interval -3.3 to -1.1
Bone Density (Low Areal Bone Mineral Density (aBMD)) 9 adult patients, femoral neck aBMD	-0.8 z-score Interval -1.5 to 0.3
Bone Density (Low Areal Bone Mineral Density (aBMD)) 13 pediatric patients, total hip aBMD	-1.5 z-score Interval -2.4 to -0.2
Bone Density (Low Areal Bone Mineral Density (aBMD)) 9 adult patients, total hip aBMD	-0.7 z-score Interval -1.5 to 0.1

Adverse Events

RTS Patients

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Steven Abrams

Baylor College of Medicine

Phone: 512-495-4700

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place