Clinical trial NCT05982717: A Study to Gather Information About Overall Occurrence and New Cases of Dravet and Lennox-Gastaut Syndromes in Children, Teenagers and Adults in Spain
Official title: Epidemiology of Dravet and Lennox-Gastaut Syndromes in Spain
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Dravet Syndrome (DS)
Lennox-Gastaut Syndrome (LGS)
Keywords: Drug Therapy
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2023-08-09
Enrollment: 237
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants diagnosed with DS or LGS at public hospitals in Spain will be enrolled in the study.

Brief summary: The main aims of this study are to gather information about how many children, teenagers and adults in Spain have been diagnosed with Dravet syndrome and Lennox-Gastaut syndrome as well as to learn about the number of new Dravet syndrome and Lennox-Gastaut syndrome cases in persons in Spain.

Participants' data will be taken from their medical records (charts), which were already collected as a part of their routine care in public hospitals in Spain between 01 January 2021 and 31 December 2022.

Detailed description: This is a non-interventional, retrospective study of participants from Spain with DS and LGS at public hospitals. The participants will be identified from their medical charts or hospital records and those who meet the eligibility criteria will be included.

This multi-center trial will be conducted in Spain. Data will be retrospectively collected for the observation period between 01 January 2021 to 31 December 2022. The total duration of the study is approximately 24 months.

Eligibility criteria: Inclusion Criteria:

A. Diagnosis criteria for DS:

• All the following criteria must be met: i. Seizures onset within 1-20 months (usually within the first year of life). ii. Normal initial development prior to presentation (no cognitive or behavioural disability before the onset of seizures) followed by behaviour and cognitive impairment.

iii. Recurrent focal clonic (hemiclonic) febrile and afebrile seizures (which often alternate sides from seizure to seizure), focal to bilateral tonicclonic, and/or generalized clonic seizures.

• And at least one of the following criteria must be met: i. Emergence of other seizure type, including atypical absence seizures, myoclonic seizures, atonic seizures, or non-tonic-clonic status epilepticus between 1-4 years.

ii. Seizures triggered by fever due to illness or vaccinations, hot baths, sudden temperature changes, high level of activity, or by strong lighting or exposure to certain visual patterns.

iii. Mutations or copy number variants in the SCN1A gene.

B. Diagnosis criteria for LGS:

Given the uncertainties associated with the diagnosis of this condition, two different criteria will be used, a stricter criterion, intended to identify "pure" Lennox-Gastaut syndrome participants, and a wider criterion, intended to also include the so-called Lennox-Gastaut-like participants.

Lennox-Gastaut syndrome - stricter criteria:

• All the following criteria must be met: i. Seizures onset before 18 years of age, typically from 1 to 8 years. ii. Progressive development/cognition impairment after seizures onset. iii. Tonic seizures. iv. At least one additional seizure: generalised tonic-clonic seiures, atypical absence seizures, atonic seizures, myoclonic seizures, focal impaired awareness, epileptic spams, or non-convulsive status epilepticus v. Slow (\<2.5 hertz \[Hz\]) spike-and-wave EEG pattern. vi. Paroxysmal fast activity (10 Hz or greater) in sleep.

Lennox-Gastaut syndrome - wider criteria:

* At least one the following criteria must be met:

  i. Tonic seizures. ii. Multiple types of seizures, including generalised tonic-clonic seizures, atypical absence seizures, atonic seizures, myoclonic seizures, myoclonic-atonic seizures, focal seizures, epileptic spams, or nonconvulsive status epilepticus.
* And at least one the following criteria must be met:

  i. Slow (\<2.5 Hz) spike-and-wave EEG pattern. ii. Paroxysmal fast activity (10 Hz or greater) in sleep.
* And at least two of the following criteria must be met:

  i. Seizures onset before 18 years of age, typically from 1 to 8 years. ii. Progressive development/cognition impairment after seizures onset. iii. Development/cognition impairment starts prior to seizures onset. iv. History of Infantile epileptic spasms syndrome (IESS), West or Ohtahara syndromes.

Exclusion Criteria

1. Participants with epileptic condition other than DS or LGS.
2. Participants with DS or LGS not residents in the reference area of the hospital.

Primary outcomes:
measure: One-Year Period Prevalence of DS
timeFrame: Up to 12 months
measure: Incidence of DS
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: One-Year Period Prevalence of LGS Based on Stricter Diagnosis Criterion
timeFrame: Up to 12 months
measure: Incidence of LGS Based on Stricter Diagnosis Criterion
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
Secondary outcomes:
measure: One-Year Period Prevalence of LGS Based on Wider Diagnosis Criterion
timeFrame: Up to 12 months
measure: Incidence of LGS Based on Wider Diagnosis Criterion
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: One-Year Period Prevalence of Paediatric DS
timeFrame: Up to 12 months
measure: One-Year Period Prevalence of Paediatric LGS Based on Stricter and Wider Diagnoses Criteria
timeFrame: Up to 12 months
measure: One-Year Period Prevalence of Adult DS
timeFrame: Up to 12 months
measure: One-Year Period Prevalence of Adult LGS Based on Stricter and Wider Diagnoses Criteria
timeFrame: Up to 12 months
measure: Incidence of Paediatric DS
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Incidence of Paediatric LGS Based on Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Incidence of Adult DS
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Incidence of Adult LGS Based on Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: DS Categorized Based on Gender Distribution
timeFrame: Up to 12 months
measure: LGS Categorized Based on Gender Distribution According to Stricter and Wider Diagnoses Criteria
timeFrame: Up to 12 months
measure: DS Categorized Based on Age Distribution
timeFrame: Up to 12 months
measure: LGS Categorized Based on Age Distribution According to Stricter and Wider Diagnoses Criteria
timeFrame: Up to 12 months
measure: DS Categorized Based on Gender Distribution at Diagnosis
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: LGS Categorized Based on Gender Distribution at Diagnosis According to Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: DS Categorized Based on Age Distribution at Diagnosis
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: LGS Categorized Based on Age Distribution at Diagnosis According to Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: DS Categorized Based on Gender Distribution at Symptoms Onset
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: LGS Categorized Based on Gender Distribution at Symptoms Onset According to Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: DS Categorized Based on Age Distribution at Symptoms Onset
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: LGS Categorized Based on Age Distribution at Symptoms Onset According to Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Diagnosis Delay for Participants With DS
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Diagnosis Delay for Participants With LGS Based on Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Participants With DS: Ratio of Participants Genetically (Sodium Channel Protein Type 1 Subunit Alpha [SCN1A] Mutation) and Clinically Diagnosed Versus Participants Clinically Diagnosed Only
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Participants With LGS: Number of Participants Distributed According to Aetiologies Based on Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Participants With DS: Number of Participants With Different Types of Comorbidities at Diagnosis
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
measure: Participants With LGS: Number of Participants With Different Types of Comorbidities at Diagnosis Based on Stricter and Wider Diagnoses Criteria
timeFrame: At two different 12 month periods (in consecutive years at Months 12 and 24)
Other outcomes:
Locations:
city: Vigo
country: Spain
facility: Complejo Hospitalario Universitario de Vigo
state: Pontevedra
city: Madrid
country: Spain
facility: H. Universitario Infantil Niño Jesús
city: Madrid
country: Spain
facility: H. Universitario La Paz
city: Valencia
country: Spain
facility: Hospital Universitari i Politècnic La Fe
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References: