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Scientists launch study to unlock mysteries of rare neurodevelopmental conditions

NCT ID NCT07329257

Knowledge-focused Sponsor: University of Missouri-Columbia 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 2 times

Summary

This study observes 100 people with rare genetic neurodevelopmental disorders like Baker Gordon Syndrome and Syt-1 disorder. Researchers will track symptoms, collect genetic and imaging data, and create cell models to better understand these conditions. The goal is to improve diagnosis and pave the way for 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 study could improve diagnosis and help develop future treatments for rare neurodevelopmental disorders.
What could go wrong
This is an observational study, not a treatment trial. It may not directly lead to new therapies, and results may take years to impact patient care.

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 100 people

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

Started

Dec 2025

Expected to finish

Dec 2028

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 with a diagnosed or suspected rare genetic neurodevelopmental disorder. Parents and caregivers over 18 years of age can participate in the study as healthy controls.

Ages

Up to 99 years

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.

For those with a rare condition: Inclusion Criteria: * Diagnosed or suspected neurogenetic disorder * Individuals 0-99 Exclusion Criteria: * Individuals unwilling or unable to complete visits with the study team. For control parents/caregivers of those with a rare condition: Inclusion Criteria: * No history of a neurological disorder. * \>18 years. * Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder. Exclusion Criteria: * Individuals unwilling or unable to complete the visit with the study team. * Individuals who have a history of neurological disorders. * \< 18 years old For all individuals who participate in the skin biopsy: * Individuals with disease that is known to be associated with poor wound healing. * Individuals with a history of allergic reaction to lidocaine. * Medical History of cellulitis, diabetes mellitus, poor extremity circulation, deep vein thrombosis, or a history of non-traumatic amputation. * Currently taking anticoagulation or have taken with last 6 months

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Conditions

The condition(s) this trial relates to.

autism developmental disability epilepsy hereditary neurological disease infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome neurodevelopmental disorder visual epilepsy

As listed by the trial registrant

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

Autism in children Baker gordon syndrome Developmental delay (disorder) Epilepsy Genetic mutations Rare neurodevelopmental conditions Rare neurogenetic conditions Seizure Syt-1 disorder

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

  • University of Missouri - Columbia

    RECRUITING

    Columbia, Missouri, 65201, United States

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