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Genetic Studies of Strabismus and Associated Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04770519
Recruitment Status : Recruiting
First Posted : February 25, 2021
Last Update Posted : September 5, 2021
Sponsor:
Information provided by (Responsible Party):
Mary Whitman, Boston Children's Hospital

Study Description
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Brief Summary:
Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants in families in which multiple people have strabismus. Families with at least 3 members with strabismus will be enrolled, and whole genome sequencing will be used to identify genetic variants shared by family members with strabismus.

Condition or disease Intervention/treatment
Strabismus Genetic: whole genome sequencing

Study Design
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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: Genetic Studies of Strabismus and Associated Disorders
Actual Study Start Date : September 3, 2021
Estimated Primary Completion Date : December 2026
Estimated Study Completion Date : December 2026

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Intervention Details:
  • Genetic: whole genome sequencing
    Whole genome sequencing will be performed for all enrolled participants.

Outcome Measures
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Primary Outcome Measures :
  1. Genetic variants [ Time Frame: 2 years ]
    genetic variants shared by family members with strabismus


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All willing members of families in which 3 or more biological relatives have strabismus (esotropia, exotropia, or vertical misalignments) with full eye movements.
Criteria

Inclusion Criteria: Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).

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Exclusion Criteria: paralytic strabismus in affected family members

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Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04770519


Contacts
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Contact: Mary Whitman, MD/PhD 617-919-2562 mary.whitman@childrens.harvard.edu

Locations
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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Mary Whitman, MD/PhD       mary.whitman@childrens.harvard.edu   
Sponsors and Collaborators
Boston Children's Hospital
More Information
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Responsible Party: Mary Whitman, Assistant Professor of Ophthalmology, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT04770519    
Other Study ID Numbers: IRB-P00036313
First Posted: February 25, 2021    Key Record Dates
Last Update Posted: September 5, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: De-identified genetic data will be deposited in dbGAP (database of genotypes and phenotypes) after publication.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Mary Whitman, Boston Children's Hospital:
strabismus
esotropia
exotropia
Additional relevant MeSH terms:
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Strabismus
Ocular Motility Disorders
Cranial Nerve Diseases
Nervous System Diseases
Eye Diseases