Hypogonadotrophic Hypogonadism in Genetic Neurodevelopmental Conditions
Launched by UNIVERSITY OF SHEFFIELD · Jun 24, 2025
Trial Information
Current as of July 27, 2025
Recruiting
Keywords
ClinConnect Summary
This study is looking at a condition called hypogonadism, which means the body has lower levels of certain hormones that are important for sexual development. Some people with genetic neurodevelopmental disorders—conditions that affect how the brain grows and works—may also have hypogonadism because of changes in specific genes. The researchers want to find out how common hypogonadism is in people with these genetic changes to help improve their care and treatment.
If you or your child has a diagnosed change in one of the genes linked to neurodevelopmental disorders, you might be eligible to take part. To join, a parent or caregiver needs to agree to the study. Participants will be invited to visit the research clinic, where the team will ask about health history, perform a physical exam to look for signs of hypogonadism, and for some, take a blood sample to check hormone levels. This study is currently recruiting people of all ages and genders, and the information gathered will help doctors better understand and support individuals with these genetic conditions.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Pathogenic SNV or CNV in neurodevelopmental disorders gene of interest parent or carer consents to study
- Exclusion Criteria:
- • parent or carer does not consent to study
About University Of Sheffield
The University of Sheffield is a prestigious research institution located in the United Kingdom, renowned for its commitment to advancing medical science and improving patient outcomes through innovative clinical research. With a multidisciplinary approach, the university fosters collaboration among leading experts in various fields, facilitating cutting-edge studies that address critical health challenges. The University of Sheffield's clinical trials are designed to adhere to rigorous ethical standards and regulatory requirements, ensuring the reliability and integrity of their findings while contributing to the global body of medical knowledge. Through its dedication to excellence in research and education, the university aims to translate scientific discoveries into real-world applications that enhance health and well-being.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Sheffield, Select, United Kingdom
Patients applied
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported