Incidence of Aicardi-Goutières syndrome (AGS) and KCNT1-related epilepsy in Denmark

Study type

• Study topic:
  Disease /health condition
• Study type:
  Non-interventional study
• Scope of the study:
  Disease epidemiology
• Data collection methods:
  Secondary use of data

Non-interventional study

• Non-interventional study design:
  Cohort

  Other
• Non-interventional study design, other:
  Retrospective, population-based study

Study drug and medical condition

• Medical condition to be studied:
  Aicardi-Goutieres syndrome
• Additional medical condition(s):
  Epilepsy – AGS & KCNT-1 related

Population studied

• Short description of the study population:
  Patients with Aicardi Goutières syndrome (AGS) and KCNT1-related epilepsy identified from the Danish population register and hospital-based data sources in Denmark.; Inclusion criteria: ; The following criteria must be met in order to be included in the AGS or KCNT1-related epilepsy patient population: ; • Available information on year and month of birth.; • Confirmed diagnosis of AGS or KCNT1-related epilepsy during the study period ; • Available information on year and month of diagnosis; • Patient is resident in Denmark at the time of diagnosis ; ; Exclusion criteria: ; • Patients not meeting all inclusion criteria are ineligible for study inclusion.
• Age groups:
  Infants and toddlers (28 days – 23 months)

  Children (2 to < 12 years)

  Adolescents (12 to < 18 years)

  Adults (18 to < 46 years)

  Adults (46 to < 65 years)

  Adults (65 to < 75 years)

  Adults (75 to < 85 years)

  Adults (85 years and over)
• Estimated number of subjects:
  40

Study design details

• Main study objective:
  The primary objective of the study is to estimate the incidence of KCNT1-related epilepsy and AGS in Denmark.
• Data analysis plan:
  Age-specific incidence will be analyzed separately for AGS and KCNT1-related epilepsy. Due to the rarity of the diseases, cases will be aggregated by age groups determined by the age distribution of the population at risk and the expected range of ages at diagnoses. Further, overall incidence (for all ages) will be estimated. The incidence rate will be calculated as the number of cases divided by the total size of the corresponding age-specific population (i.e. all residents registered as living in Denmark) in given calendar years or by period, as appropriate. The confidence interval for the incidence rate will be calculated using the Poisson assumption.

Documents

Study results

Biogen KCNT1 AGS report Final v1.0 22Mar2022 - ABSTRACT to ENCePP