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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03892798
Recruitment Status : Recruiting
First Posted : March 27, 2019
Last Update Posted : August 2, 2021
Sponsor:
Information provided by (Responsible Party):
Loren Pena, Children's Hospital Medical Center, Cincinnati

Study Description
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Brief Summary:
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.

Condition or disease Intervention/treatment
Autism Spectrum Disorder Movement Disorders Seizures Dystonia NEDAMSS Other: No interventions are planned

Detailed Description:
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.
Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 20 Years
Official Title: Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene
Actual Study Start Date : November 27, 2018
Estimated Primary Completion Date : December 2038
Estimated Study Completion Date : December 2039

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Intervention Details:
  • Other: No interventions are planned
    No interventions are planned

Outcome Measures
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Primary Outcome Measures :
  1. Questionnaire [ Time Frame: Throughout study completion, with the assessment completed on average once per year. ]
    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.


Secondary Outcome Measures :
  1. Genotype-phenotype correlations [ Time Frame: Throughout study completion, with the assessment completed on average once per year. ]
    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.


Biospecimen Retention:   Samples With DNA
If available left-ever tissue and blood from clinical investigations may be stored in the CCHMC Biorepository for future research.

Eligibility Criteria
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Ages Eligible for Study:   2 Months to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study population will consist of children and adults who are diagnosed with NEDAMSS and have variants in the IRF2BPL gene.
Criteria

Inclusion Criteria:

  • Living or deceased individuals with variants in the IRF2BPL gene

Exclusion Criteria:

  • None
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03892798


Contacts
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Contact: Loren Pena, MD, PhD 513-636-4760 loren.pena@cchmc.org
Contact: Vandana Shashi, MD 919-684-2036 vandana.shashi@duke.edu

Locations
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United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Loren Pena, MD, PhD    513-636-4760    loren.pena@cchmc.org   
Principal Investigator: Loren Pena, MD, PhD         
Sponsors and Collaborators
Children's Hospital Medical Center, Cincinnati
Investigators
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Principal Investigator: Loren Pena, MD, PhD Children's Hospital Medical Center, Cincinnati
More Information
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Additional Information:

Publications:

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Responsible Party: Loren Pena, Associate Professor, Children's Hospital Medical Center, Cincinnati
ClinicalTrials.gov Identifier: NCT03892798    
Other Study ID Numbers: 2018-6357
First Posted: March 27, 2019    Key Record Dates
Last Update Posted: August 2, 2021
Last Verified: July 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Loren Pena, Children's Hospital Medical Center, Cincinnati:
IRF2BPL
NEDAMSS
dystonia
movement disorder
seizures
Additional relevant MeSH terms:
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Seizures
Dystonia
Dystonic Disorders
Movement Disorders
Disease
Autism Spectrum Disorder
Pathologic Processes
 Neurologic Manifestations
Nervous System Diseases
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders
Dyskinesias
Central Nervous System Diseases