STXBP1 Encephalopathy with EpilepsyNCT05462054
Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with Epilepsy
An observational study of STXBP1 Encephalopathy with Epilepsy, run by Capsida Biotherapeutics, Inc..
Trial summary
This is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age. Read more about this study
- Who is it for?
- Ages 1 day to 5 years
- Conditions the study is for
- STXBP1 Encephalopathy with Epilepsy
- How many people
- 0 participants
- Where
- No sites listed yet
- Study dates
- Oct 2024to Jan 2026
- 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 1 day to 5 years
- All sexes
- No healthy volunteers
- Child
Study population: ≤5 years of age with STXBP1 related encephalopathy with epilepsy.
Who may be able to join
- Male or female, > 1 day to ≤ 5 years of age at the time of informed consent.
- Diagnosed with seizure disorder
- Presence of a STXBP1 gene mutation. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained at baseline and performed by a CLIA certified laboratory
- Written informed consent provided by a parent or legal guardian
Who cannot join
- History of prior gene therapy treatment
- Current enrollment in an interventional study or has received an investigational drug within 30 days or fewer than 5 half-lives prior to screening visit, whichever is longer
- Treatment with any antisense oligonucleotide therapy within 6 months prior to screening and anticipate remaining on treatment throughout the study
- The presence of a confirmed mutation in a gene other than STXPB1 that is known to contribute to a neurodevelopmental disability
- Presence of a significant non-STXBP1 related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study
- History of prematurity (defined as gestational age <35 weeks), interventricular hemorrhage, structural brain deficit or congenital heart disease
- Requires mechanical ventilation or non-invasive respiratory support such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) at the time of informed consent
About this study
Official title: A Phase 0 Non-interventional, Multi-center, Natural History Study in Pediatric Patients with Syntaxin Binding Protein 1 (STXBP1) Encephalopathy with Epilepsy
This is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age.
- Conditions
- STXBP1 Encephalopathy with Epilepsy
- Keywords
- STXBP1, Epilepsy, Seizures, Epileptic encephalopathy, Genetic Diseases, Inborn
- Medical subject headings
- Epileptic Encephalopathy, Early Infantile, 4, Epilepsy, Seizures, Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in neurodevelopmental parameters of adaptive behavior function over time utilizing the Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores
The Vineland Adaptive Behavior Scales, Second Edition (Survey Interview Form) is a measure of adaptive behavior in children, adolescents and adults. It yields an overall standard score (Adaptive Behavior Composite, ABC) and age standard scores in four domains. ABC scores have a mean of 100 and a standard deviation of 15 (range = 20 to 160). Higher scores suggest a higher level of adaptive functioning.
Measured: 2 Years
Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
The determination of whether a patient received Bayley Scales of Infant Development-III (BSID-III) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The BSID-III is a series of measurements to assess the motor (fine and gross), language (receptive and expressive), and cognitive development of infants and toddlers and consists of a series of developmental play tasks. contains two scoring systems of composite scores and percentile ranks. The normal range for composite scores is between 40-160 with mean at 100 and 0-99 for the percentile ranks. Higher scores mean a better outcome.
Measured: 2 Years
Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
The determination of whether a patient received Kaufman Assessment Battery for Children-II (KABC-II) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The KABC-II is an individually administered measure of processing and reasoning abilities. The scoring range is 69 and below through 131 or greater. Higher scores mean a better outcome.
Measured: 2 Years
Changes in seizure frequency over time
Seizure diary
Measured: 2 Years
Secondary outcomes (5)
Changes in communication ability over time
Observer-Reported Communication Ability (ORCA) Outcome Measure. The ORCA measure produces a single score that is an estimate of an individual's overall level of communication ability. Higher ORCA scores reflect greater communication ability; the mastery of expressive, receptive, and pragmatic types of communication and higher vocabularies for verbal words and symbols on assistive devices. The ORCA T-score range is from 26.82 to 83.24.
Measured: 2 Years
Changes in sleep behavior over time
Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ).
Measured: 2 Years
Changes in electroencephalogram (EEG) recording over time
Standard EEG, lasting approximately 1 hour, to assess the presence of epileptiform activity.
Measured: 2 Years
Changes in motor function over time utilizing an age appropriate assessment.
The Hammersmith Infant Neurological Examination (HINE) is aimed to be used for infants between 3 and 24 months of age and assess different aspects of neurological function: cranial nerve function, movements, reflexes and protective reactions and behavior, as well as some age-dependent items that reflect the development of gross and fine motor function. Each item is scored 0-3, higher scores mean a better outcome.
Measured: 2 Years
Changes in motor function over time utilizing an age appropriate assessment.
The Gross Motor Function Measure-88 is aimed to be used for children 5 months or older of age and assess changes in gross motor function over time. Each item is scored 0-3, higher scores mean a better outcome.
Measured: 2 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jul 2022
- Study startOct 2024 (estimated)
- Primary completionJan 2026 (estimated)
- Study completionJan 2026 (estimated)
Why it stopped: Withdrawn, no patients enrolled
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for STXBP1 Encephalopathy with EpilepsyStudies of the same condition, open and under way.
- 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
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Capsida Biotherapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Monitor, MD, Study director, Capsida Biotherapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05462054
- Sponsor's protocol ID
- CAP-002-501
- Status last verified
- Oct 2024
- First submitted
- 5 Jul 2022
- Last updated
- 18 Oct 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 18 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 0 Non-interventional, Multi-center, Natural History Study in Pediatric Patients with Syntaxin Binding Protein 1 (STXBP1) Encephalopathy with Epilepsy
- ClinicalTrials.gov ID
- NCT05462054
- Acronym / sponsor ID
- CAP-002-501
- Conditions
- STXBP1 Encephalopathy with Epilepsy
- Keywords
- STXBP1, Epilepsy, Seizures, Epileptic encephalopathy, Genetic Diseases, Inborn
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Withdrawn, no patients enrolled
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Capsida Biotherapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- Oct 2024 (estimated)
- Primary completion
- Jan 2026 (estimated)
- Study completion
- Jan 2026 (estimated)
- First posted
- 18 Jul 2022 (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 is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 day to 5 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- ≤5 years of age with STXBP1 related encephalopathy with epilepsy.
Key inclusion criteria (4 listed)
- Male or female, > 1 day to ≤ 5 years of age at the time of informed consent.
- Diagnosed with seizure disorder
- Presence of a STXBP1 gene mutation. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained at baseline and performed by a CLIA certified laboratory
- Written informed consent provided by a parent or legal guardian
Key exclusion criteria (7 listed)
- History of prior gene therapy treatment
- Current enrollment in an interventional study or has received an investigational drug within 30 days or fewer than 5 half-lives prior to screening visit, whichever is longer
- Treatment with any antisense oligonucleotide therapy within 6 months prior to screening and anticipate remaining on treatment throughout the study
- The presence of a confirmed mutation in a gene other than STXPB1 that is known to contribute to a neurodevelopmental disability
- Presence of a significant non-STXBP1 related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study
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
Changes in neurodevelopmental parameters of adaptive behavior function over time utilizing the Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores
Time frame: 2 Years
The Vineland Adaptive Behavior Scales, Second Edition (Survey Interview Form) is a measure of adaptive behavior in children, adolescents and adults. It yields an overall standard score (Adaptive Behavior Composite, ABC) and age standard scores in four domains. ABC scores have a mean of 100 and a standard deviation of 15 (range = 20 to 160). Higher scores suggest a higher level of adaptive functioning.
Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
Time frame: 2 Years
The determination of whether a patient received Bayley Scales of Infant Development-III (BSID-III) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The BSID-III is a series of measurements to assess the motor (fine and gross), language (receptive and expressive), and cognitive development of infants and toddlers and consists of a series of developmental play tasks. contains two scoring systems of composite scores and percentile ranks. The normal range for composite scores is between 40-160 with mean at 100 and 0-99 for the percentile ranks. Higher scores mean a better outcome.
Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
Time frame: 2 Years
The determination of whether a patient received Kaufman Assessment Battery for Children-II (KABC-II) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The KABC-II is an individually administered measure of processing and reasoning abilities. The scoring range is 69 and below through 131 or greater. Higher scores mean a better outcome.
Changes in seizure frequency over time
Time frame: 2 Years
Seizure diary
5 secondary outcomes
Changes in communication ability over time
Time frame: 2 Years
Changes in sleep behavior over time
Time frame: 2 Years
Changes in electroencephalogram (EEG) recording over time
Time frame: 2 Years
Changes in motor function over time utilizing an age appropriate assessment.
Time frame: 2 Years
Changes in motor function over time utilizing an age appropriate assessment.
Time frame: 2 Years
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Oct 2024.
- Individual participant dataSharing planned: Undecided
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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.
Medical Monitor, MD study director
Capsida Biotherapeutics, Inc.
Questions about this trial
What is this clinical trial studying?
An observational study of STXBP1 Encephalopathy with Epilepsy, run by Capsida Biotherapeutics, Inc..
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 4 inclusion and 7 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: withdrawn, as of the sponsor's last update on 18 Oct 2024. 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 was withdrawn before enrolling participants, so there are no results.
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?
Changes in neurodevelopmental parameters of adaptive behavior function over time utilizing the Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores (time frame: 2 Years). The study lists 4 primary outcomes in all. 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 18 Oct 2024.