Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene

Study Overview
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Brief Summary
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This protocol serves as a data collection tool for individuals with variants (missense, nonsense, frameshifts) in the IRF2BPL gene (MIM 611720), which causes Neurodevelopmental Regression, Seizures, Autism and Developmental Delay (NEDAMSS, MIM 618088) and may be involved in other neurodevelopmental presentations. This information will be analyzed to develop a better understanding of the findings and progression of symptoms in individuals with variants in the IRF2BPL gene.

Detailed Description
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Neurodevelopmental Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS) is caused by changes in the IRF2BPL gene. Variants in the gene can also lead to other neurodevelopmental presentations. Due to the limited number of cases that have been described to date, clinicians may have a limited understanding of what types of symptoms can develop in affected individuals and at what age. The purpose of the study is to gather clinical information about progression, treatments and outcomes for patients with variants in IRF2BPL. The investigators will collect information about medical history, growth, development, treatments and the results of previous genetic tests. In some cases, the investigators may also collect tissue samples. This is a non-interventional study that will expand the current understanding of the range of health concerns that can be seen in individuals with changes in the IRF2BPL gene by collecting medical information and samples from a larger group of affected individuals.

Official Title
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Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene

Conditions
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Autism Spectrum Disorder, Movement Disorders, Seizures, Dystonia, NEDAMSS

Intervention / Treatment
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* Other: No interventions are planned


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Living or deceased individuals with variants in the IRF2BPL gene Exclusion Criteria: None

Ages Eligible for Study
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Minimum Age: 2 Months
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: No interventions are planned|No interventions are planned|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Questionnaire | The investigators will collect information regarding age at development of symptoms, age at diagnosis, method for diagnosis, specific mutations detected, additional complications with age at onset and treatment. | Throughout study completion, with the assessment completed on average once per year. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype-phenotype correlations | The investigators will assess for correlations between the type of variant in the IRF2BPL gene, the location of the variant, and the clinical presentation and symptoms. | Throughout study completion, with the assessment completed on average once per year. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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IRF2BPL, NEDAMSS, dystonia, movement disorder, seizures