- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05462054
Natural History Study in Pediatric Patients With STXBP1 Encephalopathy With Epilepsy
October 14, 2022 updated by: Capsida Biotherapeutics, Inc.
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.
Study Overview
Status
Not yet recruiting
Conditions
Study Type
Observational
Enrollment (Anticipated)
20
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Medical Monitor
- Email: clinicaltrials@capsida.com
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 year to 3 years (Child)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Sampling Method
Non-Probability Sample
Study Population
≤5 years of age with STXBP1 related encephalopathy with epilepsy.
Description
Inclusion Criteria:
- 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
Exclusion Criteria:
- 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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
2 Years
|
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.
|
2 Years
|
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.
|
2 Years
|
Changes in seizure frequency over time
Time Frame: 2 Years
|
Seizure diary
|
2 Years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Changes in communication ability over time
Time Frame: 2 Years
|
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.
|
2 Years
|
Changes in sleep behavior over time
Time Frame: 2 Years
|
Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ).
|
2 Years
|
Changes in electroencephalogram (EEG) recording over time
Time Frame: 2 Years
|
Standard EEG, lasting approximately 1 hour, to assess the presence of epileptiform activity.
|
2 Years
|
Changes in motor function over time utilizing an age appropriate assessment.
Time Frame: 2 Years
|
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.
|
2 Years
|
Changes in motor function over time utilizing an age appropriate assessment.
Time Frame: 2 Years
|
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.
|
2 Years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Study Director: Medical Monitor, MD, Capsida Biotherapeutics, Inc.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Anticipated)
July 1, 2023
Primary Completion (Anticipated)
January 1, 2026
Study Completion (Anticipated)
January 1, 2026
Study Registration Dates
First Submitted
July 5, 2022
First Submitted That Met QC Criteria
July 13, 2022
First Posted (Actual)
July 18, 2022
Study Record Updates
Last Update Posted (Actual)
October 18, 2022
Last Update Submitted That Met QC Criteria
October 14, 2022
Last Verified
October 1, 2022
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- CAP-002-501
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Undecided
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on STXBP1 Encephalopathy With Epilepsy
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Weill Medical College of Cornell UniversityChildren's Hospital Colorado; SLC6A1 Connect; STXBP1 Foundation; Clara Inspired; University... and other collaboratorsEnrolling by invitationDevelopmental and Epileptic Encephalopathy | STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental DisorderUnited States
-
Fundación Iniciativa para las Neurociencias (FINCE)Not yet recruitingSTXBP1 Encephalopathy With EpilepsySpain
-
Hospital Ruber InternacionalZogenix, Inc.RecruitingRefractory Epilepsy | STXBP1 Encephalopathy With Epilepsy | SYNGAP1 Encephalopathy | Inv Dup(15) Encephalopathy | Multifocal or Bilateral Malformations of Cortical Development | Continuous Spike and Waves During Slow SleepSpain
-
University Hospital, Strasbourg, FranceRecruitingBenign Epilepsy With Centro Temporal Spikes (BECTS) | Atypical Benign Partial Epilepsy (ABPE) | Epileptic Encephalopathy With Continuous Spike and Waves During Sleep (ECSWS)France
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Boston Children's HospitalRecruitingEpilepsy | Dravet Syndrome | Infantile Spasms | Epileptic Encephalopathy | Ohtahara Syndrome | Early Myoclonic Epileptic Encephalopathy | PCDH19-related Epilepsy and Related Conditions | KCNQ2-Related Epileptic Encephalopathy | Epilepsy of Infancy With Migrating Focal Seizures (Disorder)United States
-
Universiteit AntwerpenUniversity Hospital, AntwerpRecruiting
-
Azienda Usl di BolognaRecruitingEpilepsy | Refractory Epilepsy | Epileptic EncephalopathyItaly
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Praxis Precision MedicinesRecruitingSCN2A Encephalopathy | SCN8A EncephalopathyUnited States, Spain
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Beijing Pins Medical Co., LtdUnknownEpileptic EncephalopathyChina
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Assistance Publique Hopitaux De MarseilleRecruitingEpileptic EncephalopathyFrance