The Molecular Basis of Inherited Reproductive Disorders

Stephanie B. Seminara, MD1 site in 1 country600 target enrollmentJanuary 21, 2021

ConditionsHypogonadotropic Hypogonadism Reproductive Disorder Kallmann Syndrome Delayed Puberty

Overview

Phase: Not Applicable
Intervention: Subjects with Reproductive Disorders
Conditions: Hypogonadotropic Hypogonadism
Sponsor: Stephanie B. Seminara, MD
Enrollment: 600
Locations: 1
Primary Endpoint: Genetic variation
Status: Active, not recruiting
Last Updated: 17 days ago

Overview Investigators Eligibility Criteria Arms & Interventions Outcomes Sites Similar Trials

Overview

Brief Summary

The goal of this study is to learn more about the genes that control puberty and reproduction in humans.

Detailed Description

All study subjects will undergo the same activities. Subjects will provide up to five tubes of blood for genetic analysis, complete a smell test, and answer questions about their health and family history.

Registry

clinicaltrials.gov

Start Date

January 21, 2021

End Date

March 1, 2027

Last Updated

17 days ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Stephanie B. Seminara, MD

Responsible Party

Sponsor Investigator

Principal Investigator

Stephanie B. Seminara, MD

Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine

Massachusetts General Hospital

Eligibility Criteria

Inclusion 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