Ignite Creation Date:
2024-05-06 @ 4:20 PM
Last Modification Date:
2024-10-26 @ 2:08 PM
Study NCT ID:
NCT04950946
Status:
UNKNOWN
Last Update Posted:
2021-07-06
First Post:
2021-06-25
Brief Title:
GNAO1 Natural History Study
Sponsor:
Washington University School of Medicine
Organization:
Washington University School of Medicine
Study Overview
Official Title:
Natural History of GNAO1-associated Neurodevelopmental Disorder
Status:
UNKNOWN
Status Verified Date:
2021-06
Last Known Status:
ENROLLING_BY_INVITATION
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GNAO1
Brief Summary:
The purpose of the GNAO1 Natural History Study is to establish the clinical phenotype of GNAO1 associated neurologic disease its association with genotype and areas of clinical importance within the disease
Detailed Description:
GNAO1 associated neurologic disease is a rare autosomal dominant neurodevelopmental disorder characterized genetically by heterozygous de novo mutations in GNAO1 gene which encodes Gαo the α subunit of Go a G protein signal transducer Phenotypically it is characterized by developmental delay epilepsy andor movement disorder Medical therapy is symptomatic and often ineffective for many patients While there are basic and translational studies underway to develop more mechanistic treatments aimed at developing disease modifying treatments our general knowledge of the natural history of GNAO1 associated neurologicis is extremely limited making it difficult to select the best measures for identifying changes over time Without this informationit will be difficult to detect any potential therapeutic efficacy in future trials of novel therapies To address this critical void in our understanding we propose to retrospectively and prospectively examine symptom progressionshort-and long-termand developmental outcomes in patients with GNAO1 associated neurologic disease Retrospective data will be collected on a cohort of 50 patients Standardized historical clinical information will be received from the physicians and care-givers of these patients in collaboration with the Bow Foundation Registry These data will provide an overview of the onset and severity of symptoms over development In addition prospective data will be acquired during in-person clinical evaluations of a cohort of 15-20 patients who are not receiving any experimental interventions In combination these two approaches will provide critical information about the natural history of GNAO1 associated neurologic disease in children identify metrics that track change most reliably over time and collect pilot data for larger future studies
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None