ClinicalTrials.gg
Sign In
RecruitingNCT06776341Updated Jul 9, 2026

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

An observational study in SMN Complex Proteins, GEMIN5 Protein, Human and Neurodevelopmental Disorders, sponsored by University of Pittsburgh. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-07-09.

Sponsored by University of Pittsburgh · Observational

From the registry’s dates

  • Started Jul 2025; still recruiting 1 year 4 months later.
Study type
Observational
Model
Cohort
Time perspective
Other
Enrollment
500
Sex
All
01

Study 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.

Read the 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:

  1. 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.
  2. 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.
  3. 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

02

Conditions studied

  • SMN Complex Proteins
  • GEMIN5 Protein, Human
  • Neurodevelopmental Disorders

Keywords

  • GEMIN5
  • Neurodevelopmental Disorders
03

In context

Neurodevelopmental Disorders

352 studies on the registry are indexed under Neurodevelopmental Disorders; 141 are open to participants now.

This study's planned enrollment of 500 is above the median of 200 across 133 observational studies indexed under Neurodevelopmental Disorders.

Browse Neurodevelopmental Disorders studies →

Lead sponsor

University of Pittsburgh is the lead sponsor of 1,419 studies on the registry; 168 are open to participants now.

Of its 9 completed or terminated interventional studies of FDA-regulated products, 4 (44%) have results posted.

Browse University of Pittsburgh studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Individuals with GEMIN5-Related Neurodevelopmental Disorder

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

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

Exclusion criteria

Exclusion Criteria:

  • none
05

Study design

Observational model
Cohort
Time perspective
Other
Enrollment
500 participants (estimated)
Target follow-up
26 Years
Patient registry
Yes
Biospecimen retention
Samples with dna

Groups and cohorts

  • GEMIN5

    GEMIN5

    Other: GEMIN5-Related Neurodevelopmental Disorder

Interventions

  • OtherGEMIN5-Related Neurodevelopmental Disorder

    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.

06

What researchers measure

Primary outcomes

  1. neurodevelopmental outcomes

    time to acquisition and/or loss of milestones

    Time frame: 26 years

Secondary outcomes

  1. MRI

    presence of cerebellar atrophy

    Time frame: 26 years

  2. Survival

    age at death

    Time frame: 26 years

  3. Vision

    presence of ocular pathology

    Time frame: 26 years

  4. Hearing

    presence of hearing loss

    Time frame: 26 years

  5. Biomarkers of disease

    Biomarkers of disease

    Time frame: 26 years

07

Study locations

1 of 1 sites recruiting
  • Children's Hospital of Pittsburgh of UPMC
    Pittsburgh, Pennsylvania 15224, United States
    Recruiting
    • Kate Kielty, MD · ContactCCNG@chp.edu · 412-692-6350
    • Deepa Soundara Rajan, MD · Sub investigator
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Jul 2025 (actual). Primary completion is estimated for Dec 2050, 305 months after the start.

Of 67 non-industry observational studies under Neurodevelopmental Disorders, half reached primary completion within 59 months of starting (the median), counting those still running; a quarter within 32 and three quarters within 101. This study's planned 305 months is above that.

Counting every sponsor, half of 70 studies reached it within 59 months; a quarter within 32 and three quarters within 101.

How these figures are worked out, and which studies are left out of them.

Registered
Jan 9, 2025
First posted
Jan 15, 2025
StartActual
Jul 7, 2025
Primary completionEst.
Dec 2050
CompletionEst.
Dec 2050
Last update
Jul 9, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Jul 9, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT06776341
Lead sponsor
University of Pittsburgh
Responsible party
Kate Kielty (Principal Investigator, University of Pittsburgh) — Principal investigator
First posted
Jan 15, 2025
Start date
Jul 7, 2025
Primary completion
Dec 2050 (estimated)
Completion
Dec 2050 (estimated)
Last update
Jul 9, 2026

Study contacts

Kate Kielty, MD
Contact
CCNG@chp.edu
412-692-6350
Kate Kielty, MD
principal investigator · University of Pittsburgh

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Interested in this study?

Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.

Contact study team

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Other studies in this condition

Neurodevelopmental Disorders →

Other studies from this sponsor

University of Pittsburgh →

Start the discussion