Authors' objectives: Exagamglogene autotemcel (exa-cel, Casgevy®) received conditional marketing authorisation from the European Medicines Agency (EMA) on February 9, 2024, as the first CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)-based gene therapy. It is classified as an Advanced Therapy Medicinal Product (ATMP) and has orphan drug status for two indications. Exa-cel is approved for treating transfusion-dependent β-thalassaemia (TDT) and severe sickle cell disease (SCD) in patients aged twelve years or older who are eligible for hematopoietic stem cell transplantation but lack a human leukocyte antigen (HLA)-matched related donor.

Authors' results and conclusions: The studies to date (two single-arm studies) show a significant improvement in symptoms in the majority of patients treated. In beta-thalassaemia, 32 out of 35 people no longer needed blood transfusions after the therapy. In sickle cell disease, 29 out of 30 patients no longer had severe pain crises. These improvements lasted for at least one to two years in both diseases. The patients' quality of life was noticeably improved as a result. Long-term experience is not yet available. The treatment is physically very stressful: The hospital stay lasts around five to six weeks and includes the preparation, the actual treatment and the time afterwards. After discharge from hospital, regular check-ups are necessary for many years. Around 60 to 80 people with severe beta-thalassaemia and around 130 persons with severe sickle cell disease live in Austria. Many have a history of migration and are not in good health when they arrive in Austria.

Authors' recommendations: Patients must first be treated with the current standard therapy for a longer period of time in order to be healthy enough to undergo exa-cel therapy without too great a health risk. According to estimates by clinical experts, around 24 patients could be eligible for and receive treatment in the next three years.

Project Status: Completed

URL for project: https://aihta.at/page/htas-fuer-bewertungsboard/en

Year Published: 2025

URL for published report: https://eprints.aihta.at/1548/1/Appraisal_Board_Document_001.pdf

URL for additional information: https://eprints.aihta.at/1548/

English language abstract: An English language summary is available

Publication Type: Other

Country: Austria

Organisation Name: Austrian Institute for Health Technology Assessment

Contact Address: Garnisongasse 7/20, A-1090 Vienna, Austria

Contact Name: office@aihta.at

Contact Email: office@aihta.at