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Scientists track rare genetic disorder to map its hidden trajectory

NCT ID NCT06776341

Knowledge-focused Sponsor: University of Pittsburgh 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 09, 2026 · Last updated Jul 10, 2026 · Updated 1 time

Summary

This study aims to better understand GEMIN5-related neurodevelopmental disorder, an ultra-rare genetic condition. Researchers will review medical records and follow participants over time to track developmental milestones, brain changes, vision, hearing, and survival. The goal is to define the disease's natural course and collect biological samples for future research.

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 clarify how GEMIN5 mutations affect development and point toward potential targets for future treatments.
What could go wrong
This is an observational study, not a treatment trial. It may not lead directly to therapies, and results depend on participant data quality.

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 500 people

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

Started

Jul 2025

Expected to finish

Dec 2050

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 GEMIN5-Related Neurodevelopmental Disorder

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: * Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above Exclusion Criteria: * none

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Conditions

The condition(s) this trial relates to.

neurodevelopmental disorder neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

As listed by the trial registrant

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

GEMIN5 protein, human Neurodevelopmental disorders SMN complex proteins

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

  • Children's Hospital of Pittsburgh of UPMC

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

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