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Scientists track rare genetic disorder to map its hidden trajectory

NCT ID NCT06776341

Recruiting now Knowledge-focused Sponsor: University of Pittsburgh Source: ClinicalTrials.gov ↗

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.

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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

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Children's Hospital of Pittsburgh of UPMC

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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