A Natural History Study of Participants With Potassium Sodium-Activated Channel Subfamily T Member 1 (KCNT1)-Related Epilepsy

NCT ID: NCT04924153

Last Updated: 2024-02-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

35 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-08-17

Study Completion Date

2023-08-29

Brief Summary

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The primary objective of the study is to characterize seizures in participants with KCNT1-related epilepsy. The secondary objectives are to characterize head growth, symptom severity, neurocognitive and social functions, adaptive behavior, sleep, quality of life, caregiver burden, and mood in participants with KCNT1-related epilepsy.

Detailed Description

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Conditions

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KCNT1-Related Epilepsy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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EIMFS and EOEE (Up to 2 years)

Participants who have been diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS) and early-onset epileptic encephalopathy (EOEE) with duration of symptoms for up to 2 years will be enrolled.

No Intervention

Intervention Type OTHER

Administered as specified in the treatment arm.

EIMFS and EOEE (More than 2 years)

Participants who have been diagnosed with EIMFS and EOEE with duration of symptoms for more than 2 years will be enrolled.

No Intervention

Intervention Type OTHER

Administered as specified in the treatment arm.

SHE (Up to 2 years)

Participants who have been diagnosed with sleep-related hypermotor epilepsy (SHE) with duration of symptoms for up to 2 years will be enrolled.

No Intervention

Intervention Type OTHER

Administered as specified in the treatment arm.

SHE (More than 2 years)

Participants who have been diagnosed with SHE with duration of symptoms for more than 2 years will be enrolled.

No Intervention

Intervention Type OTHER

Administered as specified in the treatment arm.

Interventions

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No Intervention

Administered as specified in the treatment arm.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Must have clinically and genetically confirmed diagnosis of KCNT1-related epilepsy provided by the investigator. For purposes of this study, mutations that are genetically confirmed to cause KCNT1-related epilepsy are defined to specifically exclude known benign variants (e.g., distal C terminus, splice site, etc.).
* Willingness of the participant and/or the participant's legally authorized representative (LAR) to comply with scheduled visits and study procedures.

Exclusion Criteria

* Any condition that may interfere with the assessment of KCNT1-related epilepsy and that is clearly not related to this disease (in the judgment of the investigator).
* History of human immunodeficiency virus infection.
* History of central nervous system (CNS) tumors or malignancies, including CNS metastatic disease.
* Current enrollment or past enrollment in an interventional clinical study in which an investigational gene therapy is/was administered.
* Enrollment in an interventional clinical study in which an investigational small molecule, antibody or antisense oligonucleotide (ASO) treatment or approved small molecule, antibody or ASO therapy for investigational use is administered within 1 month (or 5 half-lives of study agent, whichever is longer) prior to the screening visit.
Minimum Eligible Age

0 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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David Bearden

UNKNOWN

Sponsor Role collaborator

University of Rochester

OTHER

Sponsor Role collaborator

Biogen

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Medical Director

Role: STUDY_DIRECTOR

Biogen

Locations

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University of Rochester

Rochester, New York, United States

Site Status

Countries

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United States

Other Identifiers

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992EP001

Identifier Type: -

Identifier Source: org_study_id

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