Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

NCT06776341 | Recruiting

• 1 other identifier: STUDY24060013
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

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

Keywords

GEMIN5; Neurodevelopmental Disorders

Outcome Measures

Primary Outcomes (1)

• neurodevelopmental outcomes

  time to acquisition and/or loss of milestones

  26 years

Secondary Outcomes (5)

• MRI

  26 years

• Survival

  26 years

• Vision

  26 years

• Hearing

  26 years

• Biomarkers of disease

  26 years

Study Arms (1)

GEMIN5

GEMIN5

Other: GEMIN5-Related Neurodevelopmental Disorder

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.

GEMIN5

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with GEMIN5-Related Neurodevelopmental Disorder

You may qualify if:

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

You may not qualify if:

• none

Sponsors & Collaborators

• University of Pittsburgh: lead

Study Sites (1)

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Neurodevelopmental Disorders

Condition Hierarchy (Ancestors)

Mental Disorders

Study Officials

• Kate Kielty, MD

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kate Kielty, MD

CONTACT

412-692-6350; CCNG@chp.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 26 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 9, 2025
• First Posted: January 15, 2025
• Study Start: July 7, 2025
• Primary Completion (Estimated): December 1, 2050
• Study Completion (Estimated): December 1, 2050
• Last Updated: August 12, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)