Health TrialsbyHealthPanel

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

ConditionsSMN Complex ProteinsGEMIN5 Protein, HumanNeurodevelopmental Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Pittsburgh

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

none

Trial population

Individuals with GEMIN5-Related Neurodevelopmental Disorder

Trial design

Design model

Cohort

Time perspective

Other

Treatments tested in this trial

  • GEMIN5-Related Neurodevelopmental Disorder

    Other intervention

    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.

Treatment groups

500 Participants
are divided into 1 treatment group
Group A: GEMIN51 intervention

Trial outcomes

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

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University of Pittsburgh

Lead sponsor

Source ClinicalTrials.gov
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