Clinical trial NCT06776341: Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
Official title: Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: SMN Complex Proteins
GEMIN5 Protein, Human
Neurodevelopmental Disorders
Keywords: GEMIN5
Neurodevelopmental Disorders
Lead sponsor: University of Pittsburgh
Sponsor class: OTHER
First posted: 2025-01-15
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with GEMIN5-Related Neurodevelopmental Disorder

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:

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

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* none

Primary outcomes:
measure: neurodevelopmental outcomes
timeFrame: 26 years
Secondary outcomes:
measure: MRI
timeFrame: 26 years
measure: Survival
timeFrame: 26 years
measure: Vision
timeFrame: 26 years
measure: Hearing
timeFrame: 26 years
measure: Biomarkers of disease
timeFrame: 26 years
Other outcomes:
Locations:
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh of UPMC
state: Pennsylvania
Study officials:
affiliation: University of Pittsburgh
name: Kate Kielty, MD
role: PRINCIPAL_INVESTIGATOR
References: