Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Description

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 Fibrosis of Extraocular Muscles, Duane Retraction Syndrome, Duane Radial Ray Syndrome, Mobius Syndrome, Brown Syndrome, Marcus Gunn Syndrome, Strabismus Congenital, Horizontal Gaze Palsy, Horizontal Gaze Palsy With Progressive Scoliosis, Facial Palsy, Facial Paresis, Hereditary, Congenital, Third Nerve Palsy, Fourth Nerve Palsy, Sixth Nerve Palsy, Synkinesis, Ocular Motility Disorders, Levator-Medial Rectus Synkinesis, Athabaskan Brainstem Dysgenesis, Tongue Paralysis, Ninth Nerve Disorder, Fifth Nerve Palsy, Seventh Nerve Palsy, Eleventh Nerve Disorder, Twelfth Nerve Disorder, Vagus Nerve Paralysis, Moebius Sequence

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Study Overview

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Study Details

Study overview

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.

Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Condition
Congenital Fibrosis of Extraocular Muscles
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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).
  • * 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.

Ages Eligible for Study

1 Day to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Boston Children's Hospital,

Elizabeth Engle, MD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

2027-01