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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03059420
Recruitment Status : Recruiting
First Posted : February 23, 2017
Last Update Posted : August 5, 2020
Howard Hughes Medical Institute
National Eye Institute (NEI)
Information provided by (Responsible Party):
Elizabeth Engle, Boston Children's Hospital

Tracking Information
First Submitted Date February 15, 2017
First Posted Date February 23, 2017
Last Update Posted Date August 5, 2020
Actual Study Start Date February 1, 2004
Estimated Primary Completion Date January 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 16, 2017)
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 ]
This is an observational, descriptive study with no interventions geared towards identifying novel genes and characterizing their function, expression and impact on human cranial nerve development and disease. As genes previously undescribed in the human population are identified and characterized, reports regarding these details will be written and published but such timelines are impossible to predict. Also, as new information on previously identified genes is gathered generated, additional reports will be issued through scientific publications. As long as funding is available, the work will proceed in a rolling, ongoing timeline.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Official Title Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
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.
Detailed Description

If left untreated or unrecognized, strabismus or misalignment of the eyes, can impair the development of normal vision and is recognized to be an inherited trait in some families. The Engle Lab has investigated the genetics of complex and common strabismus and eyelid movement disorders for over 10 years and the lab's interests have expanded to include Congenital Cranial Dysinnervation Disorders (CCDDs) which are neurological disorders affecting one or more of the 12 cranial nerves. Cranial nerves control bodily functions such as movement of the eyes, transmission of visual information, smell, facial sensation, facial expression, blinking, hearing, balance, taste, chewing and swallowing.

Based on genetic studies on individuals with eye movement and eyelid disorders, the lab learned that some individuals have additional ocular defects, vascular, limb and other abnormalities. In addition, in some families relatives who carry the gene mutation may manifest the familial syndrome by having only some additional features but NOT the oculomotility disorder. Therefore, to gain greater understanding of the spectrum of the disorders being investigated, we may also enroll individuals without eye movement or lid defects who have symptoms associated with mutations in congenital cranial dysinnervation disorder (CCDD) genes.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Following specimens may be submitted: saliva, blood, discarded tissue
Sampling Method Non-Probability Sample
Study Population Individuals diagnosed with strabismus, congenital ocular motility disorders, cranial nerve dysfunction, brainstem disorders and other associated anomalies, as well as their similarly affected or unaffected family members. Unaffected individuals are enrolled only if a relative is diagnosed with one of these conditions at least one affected family members is enrolled.
  • 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
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 16, 2017)
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 2022
Estimated Primary Completion Date January 2022   (Final data collection date for primary outcome measure)
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.
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Not Provided
Contact: Brenda J Barry, MS 617-919-2168
Contact: Engle Admin 617-919-4030
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT03059420
Other Study ID Numbers 05-03-036R
R01EY015298 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Elizabeth Engle, Boston Children's Hospital
Study Sponsor Boston Children's Hospital
  • Howard Hughes Medical Institute
  • National Eye Institute (NEI)
Principal Investigator: Elizabeth Engle, MD Boston Children's Hospital
PRS Account Boston Children's Hospital
Verification Date August 2020