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Massive gene hunt launched for eye and nerve disorders

NCT ID NCT03059420

Knowledge-focused Sponsor: Boston Children's Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which could lead to improved diagnosis and future treatments.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this research could identify new genes involved in eye movement and cranial nerve disorders, potentially pointing toward future treatments or diagnostic tests.
What could go wrong
This is an observational study, not a treatment trial. It may take many years to yield useful results, and there is no guarantee that new genes will be found or that findings will lead to therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 20,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2004

Expected to finish

Jan 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

1 day and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

Abducens Nerve Diseases abducens nerve palsy accessory nerve disorder Athabaskan brainstem dysgenesis Bell's palsy Brown syndrome Congenital Cranial Dysinnervation Disorders congenital fibrosis of extraocular muscles conjugate gaze palsy Duane retraction syndrome Duane-radial ray syndrome facial paralysis Facial paresis, hereditary, congenital fourth cranial nerve palsy Glossopharyngeal Nerve Diseases glossopharyngeal nerve disorder horizontal gaze palsy with progressive scoliosis human HOXA1 syndromes hypoglossal nerve disorder isolated hereditary congenital facial paralysis jaw-winking syndrome levator-medial rectus synkinesis Mobius syndrome ocular motility disease Ocular Motility Disorders strabismus Synkinesis third cranial nerve disorder trochlear nerve disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Athabaskan brainstem dysgenesis Brown syndrome Congenital fibrosis of extraocular muscles Duane radial ray syndrome Duane retraction syndrome Eleventh nerve disorder Facial palsy Facial paresis, hereditary, congenital 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 Seventh nerve palsy Sixth nerve palsy Strabismus congenital Synkinesis Third nerve palsy Tongue paralysis Twelfth nerve disorder Vagus nerve paralysis

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.