RECRUITING

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

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Conditions

Congenital Fibrosis of Extraocular MusclesDuane Retraction SyndromeDuane Radial Ray SyndromeMobius SyndromeBrown SyndromeMarcus Gunn SyndromeStrabismus CongenitalHorizontal Gaze PalsyHorizontal Gaze Palsy With Progressive ScoliosisFacial PalsyFacial Paresis, Hereditary, CongenitalThird Nerve PalsyFourth Nerve PalsySixth Nerve PalsySynkinesisOcular Motility DisordersLevator-Medial Rectus SynkinesisAthabaskan Brainstem DysgenesisTongue ParalysisNinth Nerve DisorderFifth Nerve PalsySeventh Nerve PalsyEleventh Nerve DisorderTwelfth Nerve DisorderVagus Nerve ParalysisMoebius SequenceCFEOM (Congenital Fibrosis of Extraocular Muscles)CCDD (Congenital Cranial Dysinnervation Disorders)DRS (Duane Retraction Syndrome)DRRS (Duane Radial Ray Syndrome)StrabismusMGJWS (Marcus Gunn Jaw Winking Syndrome)HGP (Horizontal Gaze Palsy)HGPPS (Horizontal Gaze Palsy with Progressive Scoliosis)Moebius

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2004-02-01
Study Completion:2027-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03059420

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.

Ages Eligible for Study:1 Day
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Not specified
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * 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).
  1. * 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.

Contacts and Locations

Study Contact

Brenda J Barry, MS
CONTACT
617-919-2168
brenda.barry2@childrens.harvard.edu
Engle Admin
CONTACT
617-919-4030
engle.admin@childrens.harvard.edu

Principal Investigator

Elizabeth Engle, MD
PRINCIPAL_INVESTIGATOR
Boston Children's Hospital

Study Locations (Sites)

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

Collaborators and Investigators

Sponsor: Boston Children's Hospital

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2004-02-01
Study Completion Date2027-01

Study Record Updates

Study Start Date2004-02-01
Study Completion Date2027-01

Terms related to this study

Keywords Provided by Researchers

  • CFEOM (Congenital Fibrosis of Extraocular Muscles)
  • CCDD (Congenital Cranial Dysinnervation Disorders)
  • DRS (Duane Retraction Syndrome)
  • DRRS (Duane Radial Ray Syndrome)
  • Strabismus
  • MGJWS (Marcus Gunn Jaw Winking Syndrome)
  • HGP (Horizontal Gaze Palsy)
  • HGPPS (Horizontal Gaze Palsy with Progressive Scoliosis)
  • Moebius

Additional Relevant MeSH Terms

  • 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