Accepted for Publication: October 28, 2013.
Published Online: December 23, 2013. doi:10.1001/jamainternmed.2013.13309.
Study concept and design: Sacks.
Acquisition of data: Sacks, Stanesa, Hegele.
Analysis and interpretation of data: Sacks, Stanesa, Hegele.
Drafting of the manuscript: Sacks.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Sacks, Stanesa.
Administrative, technical, or material support: Hegele, Stanesa.
Study supervision: Sacks.
Conflict of Interest Disclosures: Dr Sacks has consulted for companies that develop or market drugs for dyslipidemia (Merck, ISIS, Genzyme, Sanofi, Lilly, Roche), given lectures (AstraZeneca) and was an expert witness (Abbott). Dr Hegele is a consultant and speaker for Abbott, Merck, Amgen, Valeant Pharma, Tribute Pharma, and Sunovion and was a consultant for Aegerion Pharmaceuticals. No other disclosures are reported.
Additional Information: Dr Sacks treated the patient and obtained the investigational drug. Ms Stanesa has been the patient’s primary care provider during the duration of treatment. Dr Hegele directed the genotyping investigation.
Additional Contributions: We thank Rene Belder, MD, formerly of Bristol Myers Squibb, for providing the drug and treatment protocol for the US Food and Drug Administration’s Investigational New Drug application; Daniel Rader, MD, for supporting our efforts to continue treatment with lomitapide and for comments on a draft of the manuscript; and Aegerion Pharmaceuticals for continuing to provide the drug. We also acknowledge the assistance of Aegerion in making the figures in the manuscript from data provided by Dr Sacks and for engaging Richard S. Perry, PharmD, to review and summarize the literature.