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

NCT03892798 | Completed

• 1 other identifier: 2018-6357
• Study Type: observational
• Target: 34
• Locations: 1 country
• Sites: 1

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.

Conditions

Autism Spectrum Disorder; Movement Disorders; Seizures; Dystonia; NEDAMSS

Keywords

IRF2BPL; NEDAMSS; dystonia; movement disorder; seizures

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Genotype-phenotype correlations

  Throughout study completion, with the assessment completed on average once per year.

Interventions

No interventions are planned OTHER

No interventions are planned

Eligibility Criteria

• Age: 2 Months - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Living or deceased individuals with variants in the IRF2BPL gene

You may not qualify if:

• None

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead

Study Sites (1)

Cincinnati Children's

Cincinnati, Ohio, 45229, United States

Location

Related Publications (2)

• Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martinez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. No abstract available.

  PMID: 30193138 BACKGROUND

• Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martinez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genet Med. 2019 Apr;21(4):1008-1014. doi: 10.1038/s41436-018-0143-0. Epub 2018 Aug 31.

  PMID: 30166628 BACKGROUND

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.

MeSH Terms

Conditions

Autism Spectrum Disorder; Movement Disorders; Seizures; Dystonia

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Dyskinesias

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: January 25, 2019
• First Posted: March 27, 2019
• Study Start: November 27, 2018
• Primary Completion: May 17, 2024
• Study Completion: May 17, 2024
• Last Updated: May 20, 2024

Record last verified: 2024-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)