Genetic Studies of Strabismus, Nystagmus, and Associated... | NCT04770519

Studies
Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

NCT04770519

Sponsor

Boston Children's Hospital

Status

Recruiting

Last Update Posted

Dec 12, 2025Actual

Enrollment

400Estimated

Phase

Not provided

Conditions

Strabismus
Nystagmus, Congenital

Interventions

whole genome sequencing or whole exome sequencing

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

ID	Type	Description	Link
R01EY032539	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Dec 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 3, 2021Actual

Primary Completion Date

Dec 2030Estimated

Completion Date

Dec 2030Estimated

First Submitted Date

Feb 23, 2021

First Submission Date that Met QC Criteria

Feb 23, 2021

First Posted Date

Feb 25, 2021Actual

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

Dec 9, 2025

Last Update Posted Date

Dec 12, 2025Actual

Name	Class
National Eye Institute (NEI)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

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

Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants associated with strabismus and nystagmus. Three types of subects will be enrolled: (1) Families with at least 3 members with strabismus, (2) individuals with infantile esotropia and their parents and siblings, and (3) individuals with infantile nystagmus and their parents. Whole exome and/or whole genome sequencing will be used to identify genetic variants shared by family members with strabismus and to identify genetic causes of nystagmus.

Detailed Description

Not provided

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

400Estimated

Arms/Interventions Module

Arm Groups

Not provided

Interventions

Name	Type	Description	Arm Group Labels	Other Names
whole genome sequencing or whole exome sequencing	Genetic	Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Genetic variants	genetic variants shared by family members with strabismus	2 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility 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).

- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).

- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).

Exclusion Criteria:

paralytic strabismus in affected family members

Accepts Healthy Volunteers

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

All willing members of families in which 3 or more biological relatives have strabismus (esotropia, exotropia, or vertical misalignments) with full eye movements, or affected individual has infantile esotropia or infantile nystagmus.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Kayleen Cremin, BA	Contact	857-292-3768		research.whitman@childrens.harvard.edu

Overall Officials

Name	Affiliation	Role
Mary Whitman, MD/PhD	Assistant Professor	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Boston Children's Hospital	Recruiting	Boston	Massachusetts	02115	United States

IPD Sharing Statement Module

Plan to Share IPD

Yes

Description

De-identified genetic data will be deposited in dbGAP (database of genotypes and phenotypes) after publication.

Types

Not provided

Time Frame

At time of publication

Access Criteria

de-identified data will be available per dbGAP access policies.

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D013285	Strabismus
D020417	Nystagmus, Congenital
D004948	Esotropia
D005099	Exotropia
D009759	Nystagmus, Pathologic

Ancestor Terms

ID	Term
D015835	Ocular Motility Disorders
D003389	Cranial Nerve Diseases
D009422	Nervous System Diseases
D005128	Eye Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D000073336	Whole Genome Sequencing
D000073359	Exome Sequencing

Ancestor Terms

ID	Term
D017422	Sequence Analysis, DNA
D017421	Sequence Analysis
D005821	Genetic Techniques
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided