Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
Launched by UNIVERSITY OF PITTSBURGH · Jan 9, 2025
Trial Information
Current as of June 26, 2025
Not yet recruiting
Keywords
ClinConnect Summary
This clinical trial is focused on understanding GEMIN5-Related Neurodevelopmental Disorder, a very rare condition that affects how the brain develops. Researchers will look at medical records and follow participants over time to learn more about the symptoms, when they start, and how they change. They will also take blood samples for future research. The goal is to gather important information that could help improve care for those with this disorder.
To be part of the study, individuals of any age must have a confirmed diagnosis of GEMIN5 biallelic mutations, which means that they have specific genetic changes related to this condition. There are no exclusions based on age or other factors, so anyone meeting the criteria can join. Participants can expect to share their medical history, undergo regular assessments, and contribute to research that might benefit others in the future. The study is not yet recruiting, but it promises to be an important step in understanding this complex disorder.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
- Exclusion Criteria:
- • none
About University Of Pittsburgh
The University of Pittsburgh is a leading research institution known for its commitment to advancing medical science and improving patient care through innovative clinical trials. With a robust infrastructure for research and a multidisciplinary approach, the university fosters collaboration among experts in various fields, facilitating the development of novel therapies and interventions. Its clinical trial programs emphasize ethical standards, patient safety, and the integration of cutting-edge technology, making the University of Pittsburgh a pivotal contributor to the landscape of clinical research and a trusted partner in the pursuit of health advancements.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Pittsburgh, Pennsylvania, United States
Patients applied
Trial Officials
Kate Kielty, MD
Principal Investigator
University of Pittsburgh
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported