A Natural History Study of Participants With Potassium Sodium-Activated Channel Subfamily T Member 1 (KCNT1)-Related Epilepsy (K1Te)

Biogen

Status: Completed

Conditions: KCNT1-Related Epilepsy

Treatments: Other: No Intervention

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT04924153

992EP001

Details and patient eligibility

About

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.

Enrollment: 35 patients

Sex: All

Ages: Under 50 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Key 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.

Key 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.

NOTE: Other protocol defined Inclusion/Exclusion criteria may apply.

Trial design

35 participants in 4 patient groups

EIMFS and EOEE (Up to 2 years)

Description:

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.

Treatment:

Other: No Intervention

EIMFS and EOEE (More than 2 years)

Description:

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

Treatment:

Other: No Intervention

SHE (Up to 2 years)

Description:

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

Treatment:

Other: No Intervention

SHE (More than 2 years)

Description:

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

Treatment:

Other: No Intervention