Trials Sponsors Conditions Drugs Pricing

Conditions

STXBP1 Encephalopathy with Epilepsy

Keywords

STXBP1EpilepsySeizuresEpileptic encephalopathyGenetic Diseases, Inborn

Outcome Measures

Primary Outcomes (4)

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.
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.
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.
2 Years

Secondary Outcomes (5)

Changes in communication ability over time
2 Years
Changes in sleep behavior over time
2 Years
Changes in electroencephalogram (EEG) recording over time
2 Years
Changes in motor function over time utilizing an age appropriate assessment.
2 Years
Changes in motor function over time utilizing an age appropriate assessment.
2 Years

Eligibility Criteria

Age1 Day - 5 Years

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17)

Sampling MethodNon-Probability Sample

Study Population

≤5 years of age with STXBP1 related encephalopathy with epilepsy.

You may qualify if:

Male or female, \> 1 day to ≤ 5 years of age at the time of informed consent.

Sponsors & Collaborators

Capsida Biotherapeutics, Inc.
Industrylead

Biospecimen

Retention: SAMPLES WITH DNA

STXBP1 gene mutation

MeSH Terms

Conditions

Epileptic Encephalopathy, Early Infantile, 4EpilepsySeizuresGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Brain DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurologic ManifestationsSigns and SymptomsPathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

Medical Monitor, MD
Capsida Biotherapeutics, Inc.
STUDY DIRECTOR

Enrollment

0 participants (actual enrollment reported by the registry).

Study Design

Study Type: observational
Observational Model: CASE ONLY
Time Perspective: PROSPECTIVE
Sponsor Type: INDUSTRY
Responsible Party: SPONSOR

Study Record Dates

First Submitted

July 5, 2022

First Posted

July 18, 2022

Study Start

October 2024

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

Study Stopped

Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with Epilepsy

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (4)

Secondary Outcomes (5)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (4)

Secondary Outcomes (5)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record