Recruiting

Genetic Studies

Sponsor:

Boston Children's Hospital

Code:

NCT03059420

Conditions

Congenital Cranial Dysinnervation Disorders (CCDDs)

Duane Retraction Syndrome

Duane Radial Ray Syndrome

Mobius Syndrome

Brown Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

Conditions

Congenital Cranial Dysinnervation Disorders (CCDDs)

Duane Retraction Syndrome

Duane Radial Ray Syndrome

Mobius Syndrome

Brown Syndrome

Study ID

NCT03059420

Start date

Feb 1, 2004

Status verified date

Feb, 2026

Completion date

Jan, 2030

Anticipated

Primary completion date

Jan, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • The Engle Lab is very interested in enrolling individuals with congenital conditions related to eye movement, cranial nerve and brainstem-based dysfunction, often broadly referred to as congenital cranial dysinnervation disorders (CCDDs).

Exclusion Criteria:

  • Individuals with cranial nerve disorders associated with known disorders, such as Saethre-Chotzen associated with established genetic mutations, or acquired conditions including trauma, stroke, tumor or spinal cord injuries.

Study Design

Enrollment

20000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Identifying and characterizing genes important in normal development and function of the ocular motility system, cranial nerves and brainstem and associated with congenital cranial dysinnervation disorders and related anomalies. [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Brenda J Barry, MS

617-919-2168brenda.barry2@childrens.harvard.edu

Engle Admin

617-919-4030engle.admin@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

More Information

Sponsor

Boston Children's Hospital

Last update posted

Feb 11, 2026

Last verified

Feb, 2026

Keywords

  • CFEOM (Congenital Fibrosis of Extraocular Muscles)
  • CCDD (Congenital Cranial Dysinnervation Disorders)
  • DRS (Duane Retraction Syndrome)
  • DRRS (Duane Radial Ray Syndrome)
  • Strabismus
  • MGJWS (Marcus Gunn Jaw Winking Syndrome)
  • HGP (Horizontal Gaze Palsy)
  • HGPPS (Horizontal Gaze Palsy with Progressive Scoliosis)
  • Moebius

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-26. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2026-02-11. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.