Ignite Creation Date:
2024-05-06 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 12:43 PM
Study NCT ID:
NCT03492060
Status:
RECRUITING
Last Update Posted:
2022-11-14
First Post:
2018-04-02
Brief Title:
A Natural History Study of hnRNP-related Disorders
Sponsor:
Columbia University
Organization:
Columbia University
Study Overview
Official Title:
A Natural History Study of hnRNP and Other Gene-related Disorders
Status:
RECRUITING
Status Verified Date:
2022-11
Last Known Status:
None
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:
None
Brief Summary:
The purpose of this study is to analyze patterns in individuals with hnRNP and other genetic variants including their neurological comorbidities other medical problems and any treatment The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care The investigators will also collect data prospectively in the form of questionnaires neuropsychological assessments motor assessments and electroencephalography to examine the landscape of deleterious variants in these genes
Detailed Description:
Neurodevelopmental disorders are a group of disorders in which the development of the central nervous system is disturbed The genetic basis for many neurodevelopmental disorders has continued to expand and a recent gene called HNRNPH2 Heterogeneous Nuclear Ribonucleoprotein H2 encoded by HNRNPH2 is one such gene that is associated with a common neurodevelopmental disorder characterized by developmental delay intellectual disability autism and autistic features and tone abnormalities among other multisystem problems
The investigators will expand the genetic cohort to include any individual with a confirmed variant in any gene presenting with neurodevelopmental abnormalities This is non-interventional study that examines both data previously used in clinical practice and prospective data collection in the form of questionnaires and assessments The investigators will examine patterns of initial presentation patterns in neurological evaluations neurological testing including brain MRI and electroencephalography and outcomes in individuals with genetic variants
Genes of Focus
hnRNPA1 hnRNPA2 hnRNPB1 hnRNPB2 hnRNPC2 hnRNPD hnRNPE1 hnRNPE2 hnRNPE3 hnRNPE4 hnRNPG hnRNPH1 hnRNP H2 hnRNPI hnRNPK hnRNPL hnRNPM hnRNPP hnRNPQ1 hnRNPQ2 hnRNPQ3 hnRNPR hnRNPU
The investigators will expand the genetic cohort to include any individual with a confirmed variant in any gene presenting with neurodevelopmental abnormalities This is non-interventional study that examines both data previously used in clinical practice and prospective data collection in the form of questionnaires and assessments The investigators will examine patterns of initial presentation patterns in neurological evaluations neurological testing including brain MRI and electroencephalography and outcomes in individuals with genetic variants
Genes of Focus
hnRNPA1 hnRNPA2 hnRNPB1 hnRNPB2 hnRNPC2 hnRNPD hnRNPE1 hnRNPE2 hnRNPE3 hnRNPE4 hnRNPG hnRNPH1 hnRNP H2 hnRNPI hnRNPK hnRNPL hnRNPM hnRNPP hnRNPQ1 hnRNPQ2 hnRNPQ3 hnRNPR hnRNPU
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