Understanding the genes behind reproductive disorders
The Molecular Basis of Inherited Reproductive Disorders
This study is trying to find out how genes affect puberty and reproductive health in people with reproductive disorders by looking at their blood samples and health history.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 1 Year and up |
| Sex | All |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT05971836 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the genetic factors that influence puberty and reproductive health in humans. Participants will provide blood samples for genetic analysis, complete a smell test, and answer health and family history questionnaires. The study focuses on individuals with various reproductive disorders, including hypogonadotropic hypogonadism and Kallmann syndrome, to better understand the underlying molecular mechanisms. By analyzing genetic data, researchers hope to identify potential targets for future therapies.
Who should consider this trial
Good fit: Ideal candidates include individuals with delayed puberty, hypogonadotropic hypogonadism, or other related reproductive disorders, as well as their family members.
Not a fit: Patients without any reproductive disorders or those who have already undergone successful treatment may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment options for individuals with reproductive disorders.
How similar studies have performed: While similar studies have explored genetic factors in reproductive health, this specific approach focusing on a comprehensive genetic analysis in a diverse patient population is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Participants must belong to one of the following categories: * Failure to go through a normal, age-appropriate, spontaneous puberty and low sex steroid levels in the setting of low/normal gonadotropins or, * Abnormally early development of puberty or, * Normal puberty with subsequent development of low gonadotropin levels or, * Evidence of a reproductive disorder with high gonadotropin levels or, * Pre-pubertal individuals with features suggestive of hypogonadotropic hypogonadism or, * Affected and unaffected family members of individuals that fit criteria above
Where this trial is running
Boston, Massachusetts
- Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Stephanie Seminara, MD — Massachusetts General Hospital
- Study coordinator: Study Coordinator
- Email: reproendogenetics@partners.org
- Phone: 617-643-2308
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.