Hypogonadotrophic Hypogonadism in Genetic Neurodevelopmental Conditions

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-01-08

Study Completion Date

2029-05-01

Brief Summary

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Hypogonadism is the medical name for a condition in which levels of the hormones which control sexual development are lower than normal. There are dozens of different causes of hypogonadism. Many people with hypogonadism have a change in a gene. There are many genes that give instructions for the hormones important for sexual development. Changes in one of these genes that stops the gene from working, can cause hypogonadism. In some of these medical conditions, there are additional features such as learning problems. In this study we will search databases to find all the genetic conditions that can be associated with hypogonadism. We will ask a number of people with changes in certain genes, identified from our search, to come to our research clinic. We will ask them about their health and examine them for signs of hypogonadism. For some, we will take blood samples to test for hypogonadism. This project will help us understand how common hypogonadism is, in people with these genetic changes, which will help with their treatment.

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Detailed Description

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Conditions

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Genetic Neurodevelopmental Disorders

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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

Minimum Eligible Age

0 Years

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Locations

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Sheffield Childrens Hospital NHS Foundation Trust

Sheffield, Select, United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Facility Contacts

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Alisdair McNeill, FRPC PhD

Role: primary

[email protected]

0114 222 2230

Other Identifiers

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340777

Identifier Type: -

Identifier Source: org_study_id

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