Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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 Design


Related Conditions & MeSH terms

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

NCT number NCT03059420
Study type Observational
Source Boston Children's Hospital
Contact Brenda J Barry, MS
Phone 617-919-2168
Email brenda.barry2@childrens.harvard.edu
Status Recruiting
Phase
Start date February 1, 2004
Completion date January 2027

See also
  Status Clinical Trial Phase
Recruiting NCT05581680 - Multimodal Quantified Analysis of Facial Movements: Comparison Between Pathological and Control Subjects N/A
Completed NCT04993417 - Comparison of Motor Imagery Technique and Mime Therapy on Facial Expressions in Facial Palsy Patients N/A
Completed NCT02486393 - Complications in Parotid Surgery N/A
Completed NCT05094245 - Stellate Gnaglion Block in Refractory Bell's Palsy N/A
Recruiting NCT04886245 - Eye-Tracking FP "A Pilot Study of the Quantitative Evaluation of the Attention Paid to Faces With Facial Palsy by the Eye-tracking Technology. N/A
Recruiting NCT03781700 - Evaluation of Cortisone Treatment in Children With Acute Facial Nerve Palsy Phase 4
Completed NCT03006783 - Assessment of the Cross-face Nerve Graft in the Treatment of Facial Paralysis N/A
Completed NCT00438087 - Corticosteroids in Prevention of Facial Palsy After Cranial Base Surgery Phase 3
Recruiting NCT05981651 - Development and Application of a Dynamic Three-dimensional Quantitative Facial Measurement Device
Recruiting NCT04074018 - Impacts of Two Rehabilitation Programs on Chronic Peripheral Facial Paresis N/A
Recruiting NCT04237961 - Ancillary Procedures in Patients of Refractory Facial Palsy Patients Selection and Evaluation of the Outcomes N/A
Recruiting NCT05191719 - Neurotomy to Treat Synkinesis Following Peripheral Facial Palsy N/A
Completed NCT03943953 - Self-guided Psychosocial Intervention for Facial Palsy N/A
Completed NCT03619720 - Emotional Perception and Production in Facial Palsy: Respiratory, Vocal and Facial Markers. N/A
Completed NCT02328079 - Steroid-Antiviral Treatment in Rehabilitation of Facial Palsy N/A