Improved outcomes with triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders (LC-FAOD) treated via an expanded access program (EAP)

Presented By:

Jinay Shah, RPh, MS1; Camille Bedrosian, MD1; Javier San Martin, MD1; Deborah Marsden, MD1

1Ultragenyx Pharmaceutical Inc., Novato, CA, USA

Background: Despite current management, patients (pts) with LC-FAOD may still experience major clinical events (MCEs) leading to hospitalizations and potentially death. Triheptanoin (trihep) is a highly purified, 7-carbon chain triglyceride being investigated for LC-FAOD treatment. An EAP with trihep for LC-FAOD, ongoing since February 2013, includes 3 access pathways for qualified pts: 1) emergency access to investigational new drugs (eIND), 2) individual compassionate use (CU), and 3) nominative Temporary Authorisation for Use (nATU; France only).

Methods: Information on patient demographics, disease history, prior therapy, dietary management, and treatment outcome on trihep was requested via questionnaire from physicians treating pts under the EAP.

Results: As of Sept 1, 2018, 67 pts with worsening LC-FAOD (21 eIND, 28 CU, 18 nATU) have been treated with trihep under the EAP; completed questionnaires were received for 51 pts (16 eIND, 22 CU, 13 nATU). Almost all pts had a history of MCEs prior to trihep treatment, and the most common MCEs were rhabdomyolysis (76%), hypoglycemia (53%), and cardiomyopathy (49%). Based on the clinical opinion of treating physicians, treatment with trihep resulted in improvement of most pts’ MCE (80%) that led to the EAP request, as well as their long-term LC-FAOD outcome (76%). Median duration of trihep treatment was 22.6 months as of Feb 28, 2019 (range: 0.1 to 67.8 months). Most pts (76%) remain on trihep. Reasons for discontinuation were GI intolerance (2%), cardio respiratory arrest (2%), diarrhea (2%), recurring emesis (2%), worsening of disease (2%) or reason not provided (2%). Six pts (12%) died due to worsening of underlying disease; no deaths were attributed to trihep.

Discussion: Real-world data show significant risk for pts with LC-FAOD despite current management and the need for urgent early intervention. These critically ill pts benefit from trihep treatment and most pts show improved outcomes and remain on trihep therapy.

Disclosures:

All authors are employees and shareholders of Ultragenyx Pharmaceutical Inc.

Corresponding author contact information:

Jinay Shah, RPh, MS
Office: (415) 483-8228
Cell: (415) 612-7813
e-mail: JShah@ultragenyx.com