SMN Complex ProteinsNCT06776341
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
An observational study of SMN Complex Proteins and GEMIN5 Protein, Human, run by University of Pittsburgh at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- SMN Complex Proteins, GEMIN5 Protein, Human, Neurodevelopmental Disorders
- What is being tested?
- GEMIN5-Related Neurodevelopmental Disorder
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Jul 2025to Dec 2050
- How long will I take part?
- 26 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with GEMIN5-Related Neurodevelopmental Disorder
Who may be able to join
- Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
Who cannot join
- none
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
Kate Kielty, MD, 412-692-6350, CCNG@chp.edu
Deepa Soundara Rajan, MD
About this study
Official title: Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
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:
- 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
- Being tested
- GEMIN5-Related Neurodevelopmental Disorder
- Keywords
- GEMIN5, Neurodevelopmental Disorders
- Medical subject headings
- Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GEMIN5-Related Neurodevelopmental DisorderOther
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.
| Study group | Role | What they receive |
|---|---|---|
| GEMIN5 | GEMIN5 Receives: Other: GEMIN5-Related Neurodevelopmental Disorder |
What is being measured
The primary outcome is the main question the study is designed to answer.
neurodevelopmental outcomes
time to acquisition and/or loss of milestones
Measured: 26 years
Secondary outcomes (5)
MRI
presence of cerebellar atrophy
Measured: 26 years
Survival
age at death
Measured: 26 years
Vision
presence of ocular pathology
Measured: 26 years
Hearing
presence of hearing loss
Measured: 26 years
Biomarkers of disease
Biomarkers of disease
Measured: 26 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jan 2025
- Study start7 Jul 2025
- Primary completionDec 2050 (estimated)
- Study completionDec 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SMN Complex ProteinsStudies of the same condition, open and under way.
- More trials run by University of PittsburghThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 500 participants (estimated)
- Target duration
- 26 Years
Sponsor and investigators
- Lead sponsor
- University of Pittsburgh
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Kate Kielty, University of Pittsburgh
- Investigators
- Kate Kielty, MD, Principal investigator, University of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06776341
- Sponsor's protocol ID
- STUDY24060013
- Status last verified
- Jul 2026
- First submitted
- 9 Jan 2025
- Last updated
- 9 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
- ClinicalTrials.gov ID
- NCT06776341
- Acronym / sponsor ID
- STUDY24060013
- Keywords
- GEMIN5, Neurodevelopmental Disorders
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University of PittsburghUniversity, hospital or other
- Study start
- 7 Jul 2025 (actual)
- Primary completion
- Dec 2050 (estimated)
- Study completion
- Dec 2050 (estimated)
- First posted
- 15 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 26 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GEMIN5 | – | Other: GEMIN5-Related Neurodevelopmental DisorderGEMIN5 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with GEMIN5-Related Neurodevelopmental Disorder
Key inclusion criteria (1 listed)
- Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GEMIN5-Related Neurodevelopmental DisorderThis 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. | Other | GEMIN5 |
Primary outcome
neurodevelopmental outcomes
Time frame: 26 years
time to acquisition and/or loss of milestones
5 secondary outcomes
MRI
Time frame: 26 years
Survival
Time frame: 26 years
Vision
Time frame: 26 years
Hearing
Time frame: 26 years
Biomarkers of disease
Time frame: 26 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jul 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Kate Kielty, MD principal investigator
University of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of SMN Complex Proteins and GEMIN5 Protein, Human, run by University of Pittsburgh at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kate Kielty, MD (412-692-6350, CCNG@chp.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
neurodevelopmental outcomes (time frame: 26 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jul 2026.