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Researchers track rare genetic disorders to prepare for future treatments

NCT ID NCT06555965

Knowledge-focused Sponsor: Children's Hospital of Philadelphia 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study is observing 600 people of any age with STXBP1 or SYNGAP1 gene mutations to better understand how these disorders affect development, seizures, and quality of life. No treatment is given; instead, researchers will collect data from routine clinical assessments over time. The goal is to gather information needed to design future clinical trials for potential therapies.

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 will provide crucial data to design future clinical trials for treatments for STXBP1 and SYNGAP1 related disorders.
What could go wrong
This is an observational study with no treatment being tested, so it will not directly improve symptoms. Results depend on consistent participation and data collection over time.

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 600 people

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

Started

Aug 2023

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

Participating individuals must have a confirmed genetic diagnosis of STXBP1 or SYNGAP1 related disorders. Participants can be any age and present with any disease severity

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

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: * Male or female of any age. * Presence of a STXBP1 or SYNGAP1 gene mutation. The variant in STXBP1 or SYNGAP1 must be classified as causative based on clinical and variant classification criteria. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained, if necessary, at baseline and performed by a CLIA certified laboratory. Exclusion Criteria: * The presence of a confirmed mutation in a gene other than STXBP1 or SYNGAP1 that is known to contribute to a neurodevelopmental disability. This includes full gene deletions of STXBP1 or SYNGAP1 that include other genes beyond STXBP1 or SYNGAP1. * The presence of a significant non-STXBP1-RD or non-SYNGAP1-RD related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study. * History of intraventricular hemorrhage, structural brain deficit or congenital heart disease * The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD. * Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.

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Conditions

The condition(s) this trial relates to.

developmental and epileptic encephalopathy, 4 hereditary disease intellectual disability, autosomal dominant 5

As listed by the trial registrant

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

Genetic disease STXBP1 encephalopathy with epilepsy SYNGAP1-related intellectual disability

How to take part

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

  1. The places running it

    5 sites. 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

  • Children's Hospital Colorado

    RECRUITING

    Aurora, Colorado, 80011, United States

  • Stanford Medicine Children's Health

    RECRUITING

    Palo Alto, California, 94304, United States

  • Texas Children's Hospital

    RECRUITING

    Houston, Texas, 77030, United States

  • The Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19403, United States

  • Weill Cornell Medicine

    RECRUITING

    New York, New York, 10065, United States

More trials for these conditions

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