Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: GEMIN5-Related Neurodevelopmental Disorder.
- Who it may be relevant to
- Registry conditions: SMN Complex Proteins, GEMIN5 Protein, Human, Neurodevelopmental Disorders. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
Overview
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:
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
Interventions
- Other GEMIN5-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.
Primary outcome measures
- neurodevelopmental outcomes [Time frame: 26 years]
Secondary outcome measures (5)
- 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]
Eligibility criteria
Inclusion criteria
- Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above
Exclusion criteria
- none
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Children's Hospital of Pittsburgh of UPMC — Pittsburgh
Identifiers
NCT: NCT06776341 · STUDY24060013