Metabolic Screening in Patients With Donnai-Barrow Syndrome | NCT01509287

Studies
Metabolic Screening in Patients With Donnai-Barrow Syndrome

NCT01509287

Sponsor

Massachusetts General Hospital

Status

Completed

Last Update Posted

Nov 22, 2022Actual

Enrollment

78Actual

Phase

Not provided

Conditions

Donnai-Barrow Syndrome

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Nov 2022

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 2010

Primary Completion Date

Jun 30, 2022Actual

Completion Date

Jun 30, 2022Actual

First Submitted Date

Jan 10, 2012

First Submission Date that Met QC Criteria

Jan 11, 2012

First Posted Date

Jan 12, 2012Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 21, 2022

Last Update Posted Date

Nov 22, 2022Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Barbara R. Pober, Principal Investigator and Clinical Geneticist, Massachusetts General HospitalPrincipal Investigator

Lead Sponsor

Massachusetts General HospitalOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

78Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Donnai-Barrow Syndrome (DBS)		Individuals affected with Donnai-Barrow Syndrome (DBS)
Unaffected		Healthy family members of individuals affected with Donnai-Barrow Syndrome (DBS)

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
measures of blood sugar, cholesterol, vitamins A and D, and other compounds		5 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Children/infants affected with Donnai-Barrow Syndrome

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Barbara Pober, MD	Massachusetts General Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Massachusetts General Hospital		Boston	Massachusetts	02114	United States

Condition Browse Module

MeSH Terms

ID	Term
C536390	Donnai-Barrow syndrome

Ancestor Terms

Not provided

Browse Leaves

Not provided

Browse Branches

Not provided