Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

Part of paid clinical trials in Pittsburgh, Pennsylvania.

Sponsor
University of Pittsburgh
Study ID
NCT06776341
Status
Recruiting
Apply to this trial

Conditions

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

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • GEMIN5-Related Neurodevelopmental Disorder — OTHER
    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.

Study Details

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.

Key Dates

Start date
Jul 7, 2025
Status verified
Aug 2025
Primary completion
Dec 31, 2050
Completion
Dec 31, 2050

Study Design

Enrollment
500 participants (estimated)

Arms

  • Arm: GEMIN5
    GEMIN5

Primary Outcome Measure

neurodevelopmental outcomes [ Time Frame: 26 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Children's Hospital of Pittsburgh of UPMCPittsburghPennsylvania15224
Kate Kielty, MD
[email protected]
412-692-6350
Deepa Soundara Rajan, MD (SUB_INVESTIGATOR)

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By research site
Children's Hospital of Pittsburgh of UPMC· Pittsburgh, PA

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