Scientists hunt for clues to tame Sturge-Weber syndrome

NCT ID NCT04717427

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 07, 2026 · Last updated Jul 08, 2026 · Updated 1 time

Summary

This study follows people with Sturge-Weber syndrome, a rare condition that can cause seizures, strokes, and brain damage. Researchers collect medical records, brain scans, and blood samples over time to spot patterns linked to worsening symptoms. The goal is to find biological markers that could lead to better treatments and future clinical trials.

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 early warning signs of symptom flare-ups and point toward new treatment targets for Sturge-Weber syndrome.
What could go wrong
This is an observational study, not a treatment trial. It may not directly lead to new therapies, and findings may take years to translate into clinical practice.

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

161 people

The number who actually took part.

Started

Sep 2021

Finished

Jun 2025

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

Assemble a cohort of 250 patients with standardized phenotyping/diagnosis to collect standardized longitudinal clinical and radiological data and obtain blood samples at enrollment. We anticipate 25% of 250 enrolled patients will have serious neurological symptoms.

Ages

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

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: * Patients with MRI-documented unilateral or bilateral leptomeningeal angiomas with or without neurological symptoms including seizures, headaches, and stroke-like episodes * Patients of any age * Availability of longitudinal clinical and imaging data from all patient EHR records * Consent to being followed prospectively throughout the course of the study * Willing to provide blood samples * Inclusion criteria to trigger entry into Aim 1B: severe seizures, headaches, or stroke-like episodes Exclusion Criteria: * Persons without physician diagnosed SWS * Persons unwilling to sign informed consent

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Locations

  • Boston Children's Hospital

    Boston, Massachusetts, 02115, United States

  • Cincinnati Children's Hospital

    Cincinnati, Ohio, 45229, United States

  • Kennedy Krieger Institute

    Baltimore, Maryland, 21213, United States

  • Nationwide Children's Hospital

    Columbus, Ohio, 43205, United States

  • University of California San Francisco

    San Francisco, California, 94143, United States

  • University of Illinois At Chicago

    Chicago, Illinois, 60607, United States

  • University of New Mexico

    Albuquerque, New Mexico, 87106, United States

  • Wayne State University

    Detroit, Michigan, 48202, United States

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