Recruiting

Observational Study

Sponsor:

University of Pittsburgh

Code:

NCT06776341

Conditions

SMN Complex Proteins

GEMIN5 Protein, Human

Neurodevelopmental Disorders

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

GEMIN5-Related Neurodevelopmental Disorder

Study Details

Brief 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

Study ID

NCT06776341

Start date

Jul 7, 2025

Status verified date

Jul, 2026

Completion date

Dec, 2050

Anticipated

Primary completion date

Dec, 2050

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above

Exclusion Criteria:

  • none

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

GEMIN5

GEMIN5

Interventions

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.

Primary outcome measure

  • neurodevelopmental outcomes [ Time Frame: 26 years ]

Central Contacts and Locations

Central contacts

Kate Kielty, MD

412-692-6350CCNG@chp.edu

Locations

Children's Hospital of Pittsburgh of UPMC

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Kate Kielty, MD

412-692-6350CCNG@chp.edu

More Information

Sponsor

University of Pittsburgh

Last update posted

Jul 9, 2026

Last verified

Jul, 2026

Keywords

  • GEMIN5
  • Neurodevelopmental Disorders

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Pittsburgh on 2026-07-09.