MedTrace Logo

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

NCT06776341 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2025-08-12

No results posted yet for this study

Summary

This study will include a comprehensive retrospective chart review and a longitudinal prospective observational natural history study to characterize the phenotypic spectrum of GEMIN5-Related Neurodevelopmental Disorder. We aim to define the trajectory of this ultra-rare disease, core clinical features, characteristics at disease onset and diagnosis, neurological symptomatology, and neuroimaging findings over time. In this study, biological specimens (serum) will also be collected in a biorepository for translational research purposes.

Conditions

  • SMN Complex Proteins
  • GEMIN5 Protein, Human
  • Neurodevelopmental Disorders

Interventions

OTHER

GEMIN5-Related Neurodevelopmental Disorder

This is an observational study. The investigators will collect data from participants' medical records regarding neurodevelopmental outcomes (eg. cognitive, speech and language, motor skills, developmental skills, vision, hearing), Time to event (Acquistion and loss of developmental milestones), and, if available, data regarding MRIs (presence of cerebellar atrophy), survival, visiion, hearing, and biomarkers of disease.

Sponsors & Collaborators

  • University of Pittsburgh

    lead OTHER

Principal Investigators

  • Kate Kielty, MD · University of Pittsburgh

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-07-07
Primary Completion
2050-12-31
Completion
2050-12-31

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06776341 on ClinicalTrials.gov