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

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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

Tracking Information
First Submitted Date January 25, 2019
First Posted Date March 27, 2019
Last Update Posted Date August 2, 2021
Actual Study Start Date November 27, 2018
Estimated Primary Completion Date December 2038   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 26, 2019)
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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: March 26, 2019)
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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene
Official Title Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene
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.
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 Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration 20 Years
Biospecimen Retention:   Samples With DNA
Description:
If available left-ever tissue and blood from clinical investigations may be stored in the CCHMC Biorepository for future research.
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.
Condition
  • Autism Spectrum Disorder
  • Movement Disorders
  • Seizures
  • Dystonia
  • NEDAMSS
Intervention Other: No interventions are planned
No interventions are planned
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: March 26, 2019)
100
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2039
Estimated Primary Completion Date December 2038   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Living or deceased individuals with variants in the IRF2BPL gene

Exclusion Criteria:

  • None
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Months to 80 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Loren Pena, MD, PhD 513-636-4760 loren.pena@cchmc.org
Contact: Vandana Shashi, MD 919-684-2036 vandana.shashi@duke.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03892798
Other Study ID Numbers 2018-6357
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Loren Pena, Children's Hospital Medical Center, Cincinnati
Study Sponsor Children's Hospital Medical Center, Cincinnati
Collaborators Not Provided
Investigators
Principal Investigator: Loren Pena, MD, PhD Children's Hospital Medical Center, Cincinnati
PRS Account Children's Hospital Medical Center, Cincinnati
Verification Date July 2021