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

Study identification

• PURI:
  https://redirect.ema.europa.eu/resource/48852
• EU PAS number:
  EUPAS43860
• Study ID:
  48852
• Official title and acronym:
  Incidence of Aicardi-Goutières syndrome (AGS) and KCNT1-related epilepsy in Denmark
• DARWIN EU® study:
  No
• Study countries:
  Denmark
• Study description:
  Aicardi-Goutières syndrome (AGS) and Potassium channel subfamily T, member 1 (KCNT1)-related epilepsies are rare genetic encephalopathies with epileptic features. Due to the rarity of these diseases, the epidemiology of AGS and KCNT1-related epilepsy remains unclear. Accordingly, the prevalence and incidence for these diseases or the individuals with disease-related genetic mutations remain unknown. This is a retrospective, non-interventional, population-based study using aggregate data extracted from the Danish population register and hospital-based data sources in Denmark to estimate the incidence of AGS and KCNT1-related epilepsies. Cases of AGS and KCNT1-related epilepsy will be identified at three participating study sites: the Danish Epilepsy Centre, Filadelfia for KCNT1, and the Department of Clinical Genetics at the University Hospital Copenhagen and the Centre for Rare Diseases at the Aarhus University Hospital (AUH) for AGS.
• Study status:
  Finalised

Research institutions and networks

Institutions

IQVIA

United Kingdom

Study timelines

Date when funding contract was signed

Planned: 26/06/2020

Actual: 06/07/2021

Study start date

Planned: 30/07/2021

Actual: 30/07/2021

Date of final study report

Planned: 23/03/2022

Actual: 22/03/2022

Sources of funding

Pharmaceutical company and other private sector 

More details on funding

Biogen

Study protocol

Initial protocol

Biogen_ACS_KCNT-1_Protocol FINAL_June23_2021_CLEAN

Regulatory

• Was the study required by a regulatory body?:
  No
• Is the study required by a Risk Management Plan (RMP)?:
  Not applicable