Natural History Study of GEMIN-5 Related Neurodevelopment... | NCT06776341

Studies
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

NCT06776341

Sponsor

University of Pittsburgh

Status

Recruiting

Last Update Posted

Jul 9, 2026Actual

Enrollment

500Estimated

Phase

Not provided

Conditions

SMN Complex Proteins
GEMIN5 Protein, Human
Neurodevelopmental Disorders

Interventions

GEMIN5-Related Neurodevelopmental Disorder

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

Jul 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jul 7, 2025Actual

Primary Completion Date

Dec 2050Estimated

Completion Date

Dec 2050Estimated

First Submitted Date

Jan 9, 2025

First Submission Date that Met QC Criteria

Jan 9, 2025

First Posted Date

Jan 15, 2025Actual

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

Jul 7, 2026

Last Update Posted Date

Jul 9, 2026Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Kate Kielty, Principal Investigator, University of PittsburghPrincipal Investigator

Lead Sponsor

University of PittsburghOTHER

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

This study will include a comprehensive retrospective chart review and a longitudinal prospective observational natural history study to characterize the phenotypic spectrum of GEMIN5-Related Neurodevelopmental Disorder. We aim to define the trajectory of this ultra-rare disease, core clinical features, characteristics at disease onset and diagnosis, neurological symptomatology, and neuroimaging findings over time. In this study, biological specimens (serum) will also be collected in a biorepository for translational research purposes.

Detailed Description

This study will include individuals across the lifespan with molecularly confirmed GEMIN5 biallelic mutations.

This study will be ongoing indefinitely.

There are three main components to the study as are detailed below:

A retrospective chart review of UPMC medical records and other institutions' medical records, for all patients in the study. Families/patients will provide staff with a signed Release of Information, so that we can obtain a copy of the participants complete medical record which will be requested from previously treating physicians. This may include records from several disciplines, for example neurological and physical exams, neurodevelopmental testing (cognitive, motor, language and daily living skills), growth parameters, results to previous genetic testing, MRI, lab results including lumbar puncture studies, audiologic exam, vision screening, nerve conduction studies, ophthalmologic exam, swallow studies, co-morbidities, and family history.
An observational, longitudinal prospective study of patients seen at the UPMC Center for Neuogenomics (CCNG) clinic. Clinical data obtained as part of a typical CCNG visit include vital signs, measurements (weight, head circumference, length), a developmental history, neurodevelopmental testing (eg. cognitive, speech and language, motor skills, developmental skills, vision, hearing), and a comprehensive neurological exam, including an ataxia rating scale. Additionally, any neurodiagnostic results obtained clinically are reviewed if available, such as MRI brain and spine, EEG, and nerve conductions studies.
Patients who are seen at the CCNG clinic in person may opt to submit an optional research biological samples.

Primary endpoint:

Neurodevelopmental outcomes

Secondary endpoint (if available):

MRI - presence of cerebellar atrophy Survival Vision Hearing Biomarkers of disease

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

26 Years

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

500Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
GEMIN5		GEMIN5	Other: GEMIN5-Related Neurodevelopmental Disorder

Interventions

Name	Type	Description	Arm Group Labels	Other Names
GEMIN5-Related Neurodevelopmental Disorder	Other	This is an observational study. The investigators will collect data from participants' medical records regarding neurodevelopmental outcomes (eg. cognitive, speech and language, motor skills, developmental skills, vision, hearing), Time to event (Acquistion and loss of developmental milestones), and, if available, data regarding MRIs (presence of cerebellar atrophy), survival, visiion, hearing, and biomarkers of disease.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
neurodevelopmental outcomes	time to acquisition and/or loss of milestones	26 years

Secondary Outcomes

Measure	Description	Time Frame
MRI	presence of cerebellar atrophy	26 years
Survival	age at death	26 years

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above

Exclusion Criteria:

none

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Individuals with GEMIN5-Related Neurodevelopmental Disorder

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Kate Kielty, MD	Contact	412-692-6350		CCNG@chp.edu

Overall Officials

Name	Affiliation	Role
Kate Kielty, MD	University of Pittsburgh	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Children's Hospital of Pittsburgh of UPMC	Recruiting	Pittsburgh	Pennsylvania	15224	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
D065886	Neurodevelopmental Disorders

Ancestor Terms

ID	Term
D001523	Mental Disorders

Browse Leaves

Not provided

Browse Branches

Not provided