Infantile SpasmsNCT02885389
Molecular Genetics in Infantile Spasms
An observational study of Infantile Spasms and West Syndrome, run by Hospices Civils de Lyon.
Trial summary
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Read more about this study
- Who is it for?
- Ages 3 months to 15 years
- Conditions the study is for
- Infantile Spasms, West Syndrome
- How many people
- 41 participants
- Where
- No sites listed yet
- Study dates
- Oct 2010to Jul 2012
- 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 3 months to 15 years
- All sexes
- No healthy volunteers
- Child
Study population: Infantile spams or West syndrome
Who may be able to join
- Infantile spams or West syndrome
Who cannot join
- brain malformation
- clinical features of tuberous sclerosis
- abnormal metabolic assays
About this study
Official title: Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many patients, however, remain without etiological diagnosis, which is critical for prognostic purpose and genetic counselling. In the present study, the investigators performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs.
- Conditions
- Infantile Spasms, West Syndrome
- Keywords
- Infantile spasms, West syndrome, variant, mutation, CNV, sequencing
- Medical subject headings
- Spasms, Infantile
What is being measured
The primary outcome is the main question the study is designed to answer.
Presence of deleterious gene variants in candidate genes for infantile spasms/west syndrome and for deleterious Copy-Number variations (CNV). A pan-genome analysis by microarray
Measured: Day one
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2016 (estimated)
- Study startOct 2010
- Primary completionJul 2012
- Study completionJul 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Infantile SpasmsStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 41 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02885389
- Sponsor's protocol ID
- 2010.614
- Status last verified
- Aug 2016
- First submitted
- 23 Aug 2016
- Last updated
- 31 Aug 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome
- ClinicalTrials.gov ID
- NCT02885389
- Acronym / sponsor ID
- 2010.614
- Conditions
- Infantile Spasms, West Syndrome
- Keywords
- Infantile spasms, West syndrome, variant, mutation, CNV, sequencing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 41 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Oct 2010
- Primary completion
- Jul 2012 (actual)
- Study completion
- Jul 2012 (actual)
- First posted
- 31 Aug 2016 (estimated)
- 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.
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many patients, however, remain without etiological diagnosis, which is critical for prognostic purpose and genetic counselling. In the present study, the investigators performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 months to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Infantile spams or West syndrome
Key inclusion criteria (1 listed)
- Infantile spams or West syndrome
Key exclusion criteria (3 listed)
- brain malformation
- clinical features of tuberous sclerosis
- abnormal metabolic assays
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Presence of deleterious gene variants in candidate genes for infantile spasms/west syndrome and for deleterious Copy-Number variations (CNV). A pan-genome analysis by microarray
Time frame: Day one
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 31 Aug 2016.
Related trials for Infantile Spasms
Not yet recruitingObservational study
IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).
Epileptic Encephalopathy, Early Infantile Epileptic Encephalopathy
Active, not recruitingPhase 3
A Phase 3 Study to Examine the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder.
CDKL5 Deficiency Disorder, Generalized Tonic Clonic Seizure
RecruitingPhase 2
Treatment of Refractory Infantile Spasms With Fenfluramine
Infantile Spasm
RecruitingObservational study
Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents
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A Study to Prevent Infantile Spasms Relapse
Infantile Spasms, Infantile Epileptic Spasms Syndrome
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.
Questions about this trial
What is this clinical trial studying?
An observational study of Infantile Spasms and West Syndrome, run by Hospices Civils de Lyon.
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 3 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 31 Aug 2016. Status can change between updates, so confirm with the study contact before making plans.
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?
Presence of deleterious gene variants in candidate genes for infantile spasms/west syndrome and for deleterious Copy-Number variations (CNV). A pan-genome analysis by microarray (time frame: Day one). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 31 Aug 2016.