Autism Spectrum DisorderIRF2BPLNCT03892798
Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene
An observational study of Autism Spectrum Disorder and Movement Disorders, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 months to 80 years
- Conditions the study is for
- Autism Spectrum Disorder, Movement Disorders, Seizures
- How many people
- 34 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Nov 2018to 17 May 2024
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population will consist of children and adults who are diagnosed with NEDAMSS and have variants in the IRF2BPL gene.
Who may be able to join
- Living or deceased individuals with variants in the IRF2BPL gene
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Autism Spectrum Disorder, Movement Disorders, Seizures, Dystonia, NEDAMSS
- Being tested
- No interventions are planned
- Keywords
- IRF2BPL, NEDAMSS, dystonia, movement disorder, seizures
- Medical subject headings
- Autism Spectrum Disorder, Movement Disorders, Seizures, Dystonia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventions are plannedOther
No interventions are planned
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Throughout study completion, with the assessment completed on average once per year.
Secondary outcomes (1)
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.
Measured: Throughout study completion, with the assessment completed on average once per year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Mar 2019
- Study start27 Nov 2018
- Primary completion17 May 2024
- Study completion17 May 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Autism Spectrum DisorderStudies of the same condition, open and under way.
- More trials run by Children's Hospital Medical Center, CincinnatiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 34 participants (actual)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Loren Pena, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03892798
- Sponsor's protocol ID
- 2018-6357
- Acronym
- IRF2BPL
- Status last verified
- May 2024
- First submitted
- 25 Jan 2019
- Last updated
- 20 May 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 30193138Tran 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.
PubMed 30166628
Study at a glance
From the registry record, last updated by the sponsor on 20 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene
- ClinicalTrials.gov ID
- NCT03892798
- Acronym / sponsor ID
- IRF2BPL / 2018-6357
- Conditions
- Autism Spectrum Disorder, Movement Disorders, Seizures, Dystonia, NEDAMSS
- Keywords
- IRF2BPL, NEDAMSS, dystonia, movement disorder, seizures
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 34 participants (actual)
- Lead sponsor
- Children's Hospital Medical Center, CincinnatiUniversity, hospital or other
- Study start
- 27 Nov 2018 (actual)
- Primary completion
- 17 May 2024 (actual)
- Study completion
- 17 May 2024 (actual)
- First posted
- 27 Mar 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 20 Years
Who may qualify
- Ages
- 2 months to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population will consist of children and adults who are diagnosed with NEDAMSS and have variants in the IRF2BPL gene.
Key inclusion criteria (1 listed)
- Living or deceased individuals with variants in the IRF2BPL gene
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventions are plannedNo interventions are planned | Other | – |
Primary outcome
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.
1 secondary outcome
Genotype-phenotype correlations
Time frame: Throughout study completion, with the assessment completed on average once per year.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 May 2024.
- Background: PubMed 30193138Marcogliese 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.
- Background: PubMed 30166628Tran 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autism Spectrum Disorder and Movement Disorders, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 20 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Questionnaire (time frame: Throughout study completion, with the assessment completed on average once per year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03892798, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 May 2024.