Rothmund-Thomson SyndromeNCT01304407
Calcium Absorption in Patients With Rothmund-Thomson Syndrome
A study testing Calcium stable isotope in people with Rothmund-Thomson Syndrome, run by Baylor College of Medicine at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Rothmund-Thomson Syndrome
- What is being tested?
- Calcium stable isotope
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 29 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2011to Feb 2017
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients at least four years of age who have been diagnosed clinically with RTS by a physician.
Who cannot join
- Any person who does not meet the inclusion criteria.
Trial locations and contacts
1 site in 1 country.
United States1 site
Baylor College of Medicine / Texas Children's Hospital
Houston, Texas, 77030
About this study
Official title: Evaluation of Calcium Absorption in Patients With Rothmund-Thomson Syndrome
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.
Read the 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.
- Conditions
- Rothmund-Thomson Syndrome
- Being tested
- Calcium stable isotope
- Keywords
- Rothmund-Thomson Syndrome, Calcium absorption, Bone density
- Medical subject headings
- Rothmund-Thomson Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Calcium stable isotopeOther
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 group | Role | What they receive |
|---|---|---|
| RTS Subjects, Calcium Isotope | Other | 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. Receives: Other: Calcium stable isotope |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bone Density (Low Areal Bone Mineral Density (aBMD))
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.
Measured: 8 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2011 (estimated)
- Study startMar 2011
- Primary completionOct 2015
- Study completionFeb 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Rothmund-Thomson SyndromeStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 29 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- 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
- Responsible party
- Principal investigator, Steve Abrams, MD, Baylor College of Medicine
- Investigators
- Lisa Wang, MD, Principal investigator, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01304407
- Sponsor's protocol ID
- H-27088
- Other IDs
- R01AR059063
- Status last verified
- Jul 2020
- First submitted
- 23 Feb 2011
- Last updated
- 23 Jul 2020
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Jul 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Calcium Absorption in Patients With Rothmund-Thomson Syndrome
- ClinicalTrials.gov ID
- NCT01304407
- Acronym / sponsor ID
- H-27088
- Conditions
- Rothmund-Thomson Syndrome
- Keywords
- Rothmund-Thomson Syndrome, Calcium absorption, Bone density
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 29 participants (actual)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- 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
- Study start
- Mar 2011
- Primary completion
- Oct 2015 (actual)
- Study completion
- Feb 2017 (actual)
- First posted
- 25 Feb 2011 (estimated)
- Results
- Posted 8 Jul 2020
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| RTS Subjects, Calcium Isotope | Other | Other: Calcium stable isotopeSubjects 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. |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Patients at least four years of age who have been diagnosed clinically with RTS by a physician.
Key exclusion criteria (1 listed)
- Any person who does not meet the inclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Calcium stable isotopeSubjects 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. | Other | RTS Subjects, Calcium Isotope |
Primary outcome
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.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jul 2020.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for Rothmund-Thomson Syndrome
RecruitingObservational study
Familial Investigations of Childhood Cancer Predisposition
Acute Leukemia, Adenomatous Polyposis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Lisa Wang, MD principal investigator
Baylor College of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Calcium stable isotope in people with Rothmund-Thomson Syndrome, run by Baylor College of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Jul 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 8 Jul 2020). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bone Density (Low Areal Bone Mineral Density (aBMD)) (time frame: 8 days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jul 2020.