Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants
This study builds upon previous findings by our group suggesting that variants in the MTTP gene may influence response to lomitapide. This study further presented a number of variants that may be uniquely associated with higher or lower response to lomitapide treatment.
Authors
- Petros Kalogeropoulos (ORCID: https://orcid.org/0000-0002-7708-5431)
- Vana Kolovou
- Genovefa Kolovou (ORCID: https://orcid.org/0000-0001-8788-4555)
- Georgia Anastasiou (ORCID: https://orcid.org/0000-0003-4106-0563)
- Katherine K. Anagnostopoulou (ORCID: https://orcid.org/0009-0008-1689-1131)
- Evangelos Liberopoulos (ORCID: https://orcid.org/0000-0002-7162-3323)
Institutions
- Technological Educational Institute of Piraeus (GR)
- University of Ioannina (GR)
- National and Kapodistrian University of Athens (GR)
- Metropolitan Hospital (GR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1186/s13023-025-04033-3
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Amryt Pharma