Donnai-Barrow SyndromeNCT01509287
Metabolic Screening in Patients With Donnai-Barrow Syndrome
An observational study of Donnai-Barrow Syndrome, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS). Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Donnai-Barrow Syndrome
- How many people
- 78 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2010to 30 Jun 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Children/infants affected with Donnai-Barrow Syndrome
Who may be able to join
- All individuals affected with Donnai-Barrow Syndrome
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).
Read the detailed description
The purpose of this study is to better understand the role of certain nutrients and vitamins in promoting the healthy development of individuals with Donnai-Barrow Syndrome. The investigators hope that the information gained by studying the metabolism of children with Donnai-Barrow Syndrome and their family members will lead to significant advances in the treatment of this disease.
- Conditions
- Donnai-Barrow Syndrome
- Keywords
- Donnai-Barrow Syndrome (DBS), metabolic testing, genes, genetic
- Medical subject headings
- Donnai-Barrow syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Donnai-Barrow Syndrome (DBS) | Individuals affected with Donnai-Barrow Syndrome (DBS) | |
| Unaffected | Healthy family members of individuals affected with Donnai-Barrow Syndrome (DBS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
measures of blood sugar, cholesterol, vitamins A and D, and other compounds
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jan 2012 (estimated)
- Study startMar 2010
- Primary completion30 Jun 2022
- Study completion30 Jun 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Donnai-Barrow SyndromeStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe 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
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 78 participants (actual)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Barbara R. Pober, Massachusetts General Hospital
- Investigators
- Barbara Pober, MD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01509287
- Sponsor's protocol ID
- 2009p001589
- Status last verified
- Nov 2022
- First submitted
- 10 Jan 2012
- Last updated
- 22 Nov 2022
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 22 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Screening in Patients With Donnai-Barrow Syndrome
- ClinicalTrials.gov ID
- NCT01509287
- Acronym / sponsor ID
- 2009p001589
- Conditions
- Donnai-Barrow Syndrome
- Keywords
- Donnai-Barrow Syndrome (DBS), metabolic testing, genes, genetic
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 78 participants (actual)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Study start
- Mar 2010
- Primary completion
- 30 Jun 2022 (actual)
- Study completion
- 30 Jun 2022 (actual)
- First posted
- 12 Jan 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).
Detailed description
The purpose of this study is to better understand the role of certain nutrients and vitamins in promoting the healthy development of individuals with Donnai-Barrow Syndrome. The investigators hope that the information gained by studying the metabolism of children with Donnai-Barrow Syndrome and their family members will lead to significant advances in the treatment of this disease.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Donnai-Barrow Syndrome (DBS) | – | –Individuals affected with Donnai-Barrow Syndrome (DBS) |
| Unaffected | – | –Healthy family members of individuals affected with Donnai-Barrow Syndrome (DBS) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children/infants affected with Donnai-Barrow Syndrome
Key inclusion criteria (1 listed)
- All individuals affected with Donnai-Barrow Syndrome
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
measures of blood sugar, cholesterol, vitamins A and D, and other compounds
Time frame: 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Nov 2022.
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.
Barbara Pober, MD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Donnai-Barrow Syndrome, run by Massachusetts General Hospital 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 0 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 22 Nov 2022. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
measures of blood sugar, cholesterol, vitamins A and D, and other compounds (time frame: 5 years). 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 22 Nov 2022.