StrabismusNCT04770519
Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
An observational study of Strabismus and Nystagmus, Congenital, run by Boston Children's Hospital at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Strabismus, Nystagmus, Congenital
- What is being tested?
- whole genome sequencing or whole exome sequencing
- How many people
- 400 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Sep 2021to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
- No healthy volunteers
- Child, Adult, Older 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.
Who may be able to join
- Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).
- OR
- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).
- OR
- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).
Who cannot join
- paralytic strabismus in affected family members
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Mary Whitman, MD/PhD, mary.whitman@childrens.harvard.edu
About this study
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.
- Conditions
- Strabismus, Nystagmus, Congenital
- Being tested
- whole genome sequencing or whole exome sequencing
- Keywords
- strabismus, esotropia, exotropia, nystagmus
- Medical subject headings
- Strabismus, Nystagmus, Congenital, Esotropia, Exotropia, Nystagmus, Pathologic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
whole genome sequencing or whole exome sequencingGenetic
Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic variants
genetic variants shared by family members with strabismus
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2021
- Study start3 Sep 2021
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for StrabismusStudies of the same condition, open and under way.
- More trials run by Boston Children's 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
- Family based
- Time perspective
- Retrospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Responsible party
- Principal investigator, Mary Whitman, Boston Children's Hospital
- Investigators
- Mary Whitman, MD/PhD, Principal investigator, Assistant Professor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04770519
- Sponsor's protocol ID
- IRB-P00036313
- Other IDs
- R01EY032539
- Status last verified
- Dec 2025
- First submitted
- 23 Feb 2021
- Last updated
- 12 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified genetic data will be deposited in dbGAP (database of genotypes and phenotypes) after publication.
Study at a glance
From the registry record, last updated by the sponsor on 12 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
- ClinicalTrials.gov ID
- NCT04770519
- Acronym / sponsor ID
- IRB-P00036313
- Conditions
- Strabismus, Nystagmus, Congenital
- Keywords
- strabismus, esotropia, exotropia, nystagmus
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Study start
- 3 Sep 2021 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 25 Feb 2021 (actual)
- 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.
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.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older 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.
Key inclusion criteria (5 listed)
- Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).
- OR
- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).
- OR
- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).
Key exclusion criteria (1 listed)
- paralytic strabismus in affected family members
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 |
|---|---|---|
| whole genome sequencing or whole exome sequencingWhole genome sequencing or whole exome sequencing will be performed for all enrolled participants. | Genetic | – |
Primary outcome
Genetic variants
Time frame: 2 years
genetic variants shared by family members with strabismus
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Dec 2025.
- Individual participant dataSharing planned: Yes. De-identified genetic data will be deposited in dbGAP (database of genotypes and phenotypes) after publication.
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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.
Mary Whitman, MD/PhD principal investigator
Assistant Professor
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 Strabismus and Nystagmus, Congenital, run by Boston Children's 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 5 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: looking for participants now, as of the sponsor's last update on 12 Dec 2025. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kayleen Cremin, BA (857-292-3768, research.whitman@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic variants (time frame: 2 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 12 Dec 2025.