Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology, Neurology, Neurology, Orthopedic, Psychiatric, Autism |
| Therapuetic Areas: | Neurology, Psychiatry / Psychology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any - 80 |
| Updated: | 3/29/2019 |
| Start Date: | November 27, 2018 |
| End Date: | December 2039 |
| Contact: | Loren Pena, MD, PhD |
| Email: | loren.pena@cchmc.org |
| Phone: | 513-636-4760 |
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.
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.
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.
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.
Inclusion Criteria:
- Living or deceased individuals with variants in the IRF2BPL gene
Exclusion Criteria:
We found this trial at
1
site
3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229
Cincinnati, Ohio 45229
1-513-636-4200
Principal Investigator: Loren Pena, MD, PhD
Phone: 513-636-4760
Cincinnati Children's Hospital Medical Center Patients and families from across the region and around the...
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