Low sex‑hormone levels in genetic neurodevelopmental conditions
Official title: Hypogonadotrophic Hypogonadism in Genetic Neurodevelopmental Conditions
Run by University of Sheffield · NCT07049042 · Data updated 2026-11-12
This project will test whether people with certain genetic neurodevelopmental conditions have low sex hormones (hypogonadism) and how common it is.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Years to 99 Years |
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | University of Sheffield Academic / other |
| Locations | 1 site (Sheffield, Select) |
| Status | Recruiting |
| Started | January 8, 2025 |
| Main results expected | May 1, 2029 |
| Study ends | May 1, 2029 |
| Registry record updated | July 3, 2025 |
| Trial ID | NCT07049042 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People with a pathogenic SNV or CNV in a neurodevelopmental disorder gene who can attend the clinic and whose parent or carer provides consent are eligible.
✕Probably not a fit
People without a pathogenic variant in the targeted genes, those who cannot travel to Sheffield, or whose parent or carer does not consent are unlikely to benefit from this project.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Researchers will search medical and genetic databases to identify genes linked to both neurodevelopmental disorders and hypogonadism. People identified with pathogenic single-nucleotide variants (SNVs) or copy-number variants (CNVs) in these genes will be invited to a clinic visit. At the visit clinicians will take a medical history, perform a physical exam for signs of hypogonadism, and for some participants collect blood samples to measure hormone levels. The approach combines literature/database review with direct clinical phenotyping to estimate how often hypogonadism occurs across different genetic conditions.
Why it matters
Potential benefit: If successful, this work could help identify individuals who need hormonal evaluation or treatment earlier and improve guidance for families and clinicians.
How similar studies have gone: Previous reports have linked specific genes to hypogonadism (for example Kallmann-related genes), but comprehensive database-driven searches followed by clinic-based hormone testing across many genes are relatively uncommon.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Sheffield Childrens Hospital NHS Foundation Trust
Sheffield, Select, United Kingdom Recruiting
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.