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

Launched by BOSTON CHILDREN'S HOSPITAL · Feb 16, 2017

Keywords

ClinConnect Summary

This clinical trial is studying genetic factors that may cause problems with eye movement and other related conditions. Specifically, the researchers want to understand how certain genes affect the development and function of cranial nerves and the brainstem, which can lead to conditions like strabismus (where the eyes are misaligned) and other disorders affecting eye movements. By identifying these genes, the researchers hope to learn more about these congenital conditions and how they impact individuals.

The trial is open to individuals aged 1 and older who have congenital conditions related to eye movement and cranial nerve dysfunction. To participate, you should not have any cranial nerve disorders linked to known genetic mutations or those caused by injuries like trauma or stroke. If you join the trial, you can expect to provide information about your health and possibly undergo genetic testing to help researchers gather important data. This study is currently recruiting participants and welcomes anyone with these specific eye movement disorders.

Gender

ALL

Eligibility criteria

• 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.