RECRUITING

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder

Quick Facts

Study Start:2025-07
Study Completion:2050-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06776341

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
  1. * none

Contacts and Locations

Study Contact

Kate Kielty, MD
CONTACT
412-692-9955
kate.kielty@chp.edu

Principal Investigator

Kate Kielty, MD
PRINCIPAL_INVESTIGATOR
University of Pittsburgh

Study Locations (Sites)

Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
United States

Collaborators and Investigators

Sponsor: University of Pittsburgh

  • Kate Kielty, MD, PRINCIPAL_INVESTIGATOR, University of Pittsburgh

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-07
Study Completion Date2050-12

Study Record Updates

Study Start Date2025-07
Study Completion Date2050-12

Terms related to this study

Keywords Provided by Researchers

  • GEMIN5
  • Neurodevelopmental Disorders

Additional Relevant MeSH Terms

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