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

NCT04924153 | Completed

• 1 other identifier: 992EP001
• Study Type: observational
• Target: 35
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

KCNT1-Related Epilepsy

Keywords

Epilepsy of Infancy with Migrating Focal Seizures (EIMFS); Early-Onset Epileptic Encephalopathy (EOEE); Sleep-Related Hypermotor Epilepsy (SHE); Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

Outcome Measures

Primary Outcomes (1)

• Number of Seizures in Participants with KCNT1-Related Epilepsy, Assessed by Type

  Frequency and type of seizures as recorded daily by participants (or their caregivers/observers) in an electronic seizure diary.

  Up to Month 12

Secondary Outcomes (24)

• Change from Baseline in Head Circumference

  Up to Month 12

• Clinical Global Impression-Severity (CGI-S) Scale Scores

  Up to Month 12

• Clinical Global Impression-Change (CGI-C) Scale Scores

  Up to Month 12

• Participant-Specific Visual Analog Scale (VAS) for Most Concerning Symptoms Scores

  Up to Month 12

• Vineland Adaptive Behavior Scales-Third Edition (Vineland-3) Composite Scores

  Up to Month 12

Study Arms (4)

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.

Other: No Intervention

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.

Other: No Intervention

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.

Other: No Intervention

SHE (More than 2 years)

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

Other: No Intervention

Interventions

No Intervention OTHER

Administered as specified in the treatment arm.

EIMFS and EOEE (More than 2 years); EIMFS and EOEE (Up to 2 years); SHE (More than 2 years); SHE (Up to 2 years)

Eligibility Criteria

• Age: 0 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study population include participants with KCNT1-related epilepsy.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Biogen: lead
• David Bearden: collaborator
• University of Rochester: collaborator

Study Sites (1)

University of Rochester

Rochester, New York, 14642, United States

Location

MeSH Terms

Conditions

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Study Officials

• Medical Director

  Biogen

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 8, 2021
• First Posted: June 11, 2021
• Study Start: August 17, 2021
• Primary Completion: August 29, 2023
• Study Completion: August 29, 2023
• Last Updated: February 28, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will share

Locations

US (1)