The Molecular Basis of Inherited Reproductive Disorders | NCT05971836

Studies
The Molecular Basis of Inherited Reproductive Disorders

NCT05971836

Sponsor

Stephanie B. Seminara, MD

Status

Active, not recruiting

Last Update Posted

Apr 15, 2026Actual

Enrollment

600Estimated

Phase

Not provided

Conditions

Hypogonadotropic Hypogonadism
Reproductive Disorder
Kallmann Syndrome
Delayed Puberty

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2026

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 21, 2021Actual

Primary Completion Date

Mar 2027Estimated

Completion Date

Mar 2027Estimated

First Submitted Date

Jul 17, 2023

First Submission Date that Met QC Criteria

Jul 31, 2023

First Posted Date

Aug 2, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 11, 2026

Last Update Posted Date

Apr 15, 2026Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Stephanie B. Seminara, MD, Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine, Massachusetts General HospitalSponsor-Investigator

Lead Sponsor

Stephanie B. Seminara, MDOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

600Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Subjects with Reproductive Disorders		Individuals with reproductive disorders and their affected and unaffected family members

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Genetic variation	Identification of one or more genetic variations related to reproductive disorders	Day 1

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

1 Year

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Individuals with reproductive disorders and their affected and unaffected family members

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Stephanie Seminara, MD	Massachusetts General Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Massachusetts General Hospital		Boston	Massachusetts	02114	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D007006	Hypogonadism
D017436	Kallmann Syndrome
D011628	Puberty, Delayed

Ancestor Terms

ID	Term
D006058	Gonadal Disorders
D004700	Endocrine System Diseases
D058490	Disorder of Sex Development, 46,XY
D012734	Disorders of Sex Development

Browse Leaves

Not provided

Browse Branches

Not provided