Understanding how GEMIN5-related neurodevelopmental disorder develops over time
Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
University of Pittsburgh · NCT06776341
We will collect medical records, clinic exam data, and blood samples to see how GEMIN5-related neurodevelopmental disorder progresses in people of all ages who have two GEMIN5 gene mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | University of Pittsburgh (other) |
| Locations | 1 site (Pittsburgh, Pennsylvania) |
| Trial ID | NCT06776341 on ClinicalTrials.gov |
What this trial studies
This observational project combines a retrospective chart review with a prospective longitudinal clinic follow-up to define the clinical features and course of GEMIN5-related neurodevelopmental disorder. Investigators will review past medical records from UPMC and other treating institutions and will perform standardized clinical visits at the UPMC Center for Neuogenomics to capture growth, neurological exams, developmental testing, and neurodiagnostic results. Serum samples will be banked in a biorepository to support future translational research. The study enrolls individuals of any age with molecularly confirmed biallelic GEMIN5 mutations and will continue ongoing data collection over time.
Who should consider this trial
Good fit: People of any age with molecularly confirmed biallelic GEMIN5 mutations who can provide medical record releases and are willing to attend clinic visits and give blood samples are ideal candidates.
Not a fit: Individuals without molecular confirmation of GEMIN5 mutations or those seeking direct therapeutic treatment rather than observation are unlikely to receive direct medical benefit from participation.
Why it matters
Potential benefit: If successful, the work could improve diagnosis and clinical care by defining typical features and progression and provide biological samples that enable future therapy development.
How similar studies have performed: This natural-history approach is largely novel for GEMIN5 and comparable data are scarce, limited mostly to case reports and small case series.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above Exclusion Criteria: * none
Where this trial is running
Pittsburgh, Pennsylvania
- Children's Hospital of Pittsburgh of UPMC — Pittsburgh, Pennsylvania, United States (RECRUITING)
Study contacts
- Principal investigator: Kate Kielty, MD — University of Pittsburgh
- Study coordinator: Kate Kielty, MD
- Email: CCNG@chp.edu
- Phone: 412-692-6350
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: SMN Complex Proteins, GEMIN5 Protein, Human, Neurodevelopmental Disorders, GEMIN5