Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
Jong G Park, Max A Tischfield, Alicia A Nugent...
https://pubmed.ncbi.nlm.nih.gov/27181683Actively Recruiting
Age: 1Day +
All Genders
Healthy Volunteers
ID03059420
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Led by Boston Children's Hospital · Updated on 2026-02-11
20000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
H
Howard Hughes Medical Institute
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying genes related to problems in the development and function of the cranial nerves and brainstem. These problems can cause misalignment of the eyes, known as strabismus, and other related conditions. The study focuses on congenital cranial dysinnervation disorders (CCDDs), which affect one or more of the 12 cranial nerves controlling eye movement, facial expressions, hearing, balance, and other functions. The research aims to better understand these inherited neurological disorders and their broader effects. The study involves enrolling individuals with congenital eye movement and cranial nerve disorders, as well as family members who may carry related gene mutations but show different symptoms. There are no drug or device treatments involved since this is an observational genetic study. The research collects information to identify and characterize genes important for normal ocular motility and brainstem function linked to CCDDs and associated anomalies. Participants provide medical and family history information related to eye and cranial nerve conditions. The research team studies genetic samples to find gene mutations connected to these disorders. The main outcome measured is the identification of genes that play a role in normal development and function of the eye movement system and associated cranial nerves. Participation is ongoing, with no intervention or treatment administered. The study is open to all genders aged 1 year and older and continues until January 2030.
CONDITIONS
Brief Title
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Who Can Participate
Age: 1Day +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Individuals with congenital conditions related to eye movement, cranial nerve, and brainstem-based dysfunction, often called congenital cranial dysinnervation disorders (CCDDs)
You will not qualify if you...
- Individuals with cranial nerve disorders linked to known genetic syndromes such as Saethre-Chotzen
- Individuals with cranial nerve disorders caused by trauma, stroke, tumor, or spinal cord injuries
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Ongoing throughout participation
Participants undergo diagnostic assessments to characterize genetic and clinical features related to eye movement and cranial nerve disorders.
1 or more visits as needed for assessments
Long-term Monitoring
Duration - Up to several years until study completion
Participants are observed over time to understand the spectrum and progression of congenital cranial dysinnervation disorders and related anomalies.
Periodic visits depending on individual needs
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
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Research Team
B
Brenda J Barry, MS
E
Engle Admin
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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