- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01304407
Calcium Absorption in Patients With Rothmund-Thomson Syndrome
Evaluation of Calcium Absorption in Patients With Rothmund-Thomson Syndrome
Study Overview
Status
Conditions
Intervention / Treatment
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
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
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Texas
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Houston, Texas, United States, 77030
- Baylor College of Medicine / Texas Children's Hospital
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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.
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Other: 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.
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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.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Bone Density (Low Areal Bone Mineral Density (aBMD))
Time Frame: 8 days
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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.
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8 days
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Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Lisa Wang, MD, Baylor College of Medicine
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Metabolic Diseases
- Skin Diseases
- Disease
- Congenital Abnormalities
- Infant, Newborn, Diseases
- Genetic Diseases, Inborn
- Skin Diseases, Genetic
- DNA Repair-Deficiency Disorders
- Skin Abnormalities
- Syndrome
- Rothmund-Thomson Syndrome
- Physiological Effects of Drugs
- Calcium-Regulating Hormones and Agents
- Calcium
Other Study ID Numbers
- H-27088
- R01AR059063 (U.S. NIH Grant/Contract)
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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