The Molecular Basis of Inherited Reproductive Disorders

NCT05971836 | Active Not Recruiting

• 1 other identifier: 2020P000762
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Hypogonadotropic Hypogonadism; Reproductive Disorder; Kallmann Syndrome; Delayed Puberty

Keywords

Hypogonadotropic hypogonadism; Reproductive disorders; Kallmann syndrome; Kisspeptin; Delayed Puberty

Outcome Measures

Primary Outcomes (1)

• Genetic variation

  Identification of one or more genetic variations related to reproductive disorders

  Day 1

Study Arms (1)

Subjects with Reproductive Disorders

Individuals with reproductive disorders and their affected and unaffected family members

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with reproductive disorders and their affected and unaffected family members

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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Stephanie B. Seminara, MD: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

MeSH Terms

Conditions

Hypogonadism; Kallmann Syndrome; Puberty, Delayed

Condition Hierarchy (Ancestors)

Gonadal Disorders; Endocrine System Diseases; Disorder of Sex Development, 46,XY; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Stephanie Seminara, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine

Study Record Dates

• First Submitted: July 17, 2023
• First Posted: August 2, 2023
• Study Start: January 21, 2021
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): March 1, 2027
• Last Updated: April 15, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)