Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access Program

Ultragenyx

Status: Completed

Conditions: Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Treatments: Other: No Intervention

Study type: Observational

Funder types: Industry

Identifiers

NCT03768817

UX007-CL003

Details and patient eligibility

About

The primary objective of the study is to evaluate the clinical outcomes for the trigger event of patients who receive triheptanoin in the emergency Investigational New Drug (eIND) program.

Full description

The study is a retrospective chart review of patients in the USA with LC-FAOD who received triheptanoin via eIND request from their metabolic or treating physician before 01 September 2018. Participating study sites will provide the medical records of subjects who meet eligibility criteria, and relevant data regarding the trigger event (the reason the patient was placed on triheptanoin) and key details about hospitalizations during the study period will be extracted.

Enrollment: 20 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Male or female patients of any age with confirmed diagnosis of one of the LC-FAOD disorders including: mitochondrial trifunctional protein (TFP) deficiency, carnitine palmitoyltransferase deficiencies (CPT I and CPT II), very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency, and carnitine acylcarnitine translocase (CATR) deficiency
• Treatment initiation with triheptanoin was via eIND before 01 September 2018
• Treated with triheptanoin in the USA
• Willing and able to provide written, signed informed consent, or where appropriate for subjects under the age of 18, or provide written assent and written informed consent by a legally authorized representative after the nature of the study has been explained and prior to any research-related procedures. To obtain and review medical records of deceased individuals, informed consent from next of kin or appropriate legal entity will be obtained, as applicable.

Exclusion criteria

• Unwilling to sign informed consent or assent to release of medical records

Trial design

20 participants in 1 patient group

Patients treated with triheptanoin

Description:

Patients with LC-FAOD treated with triheptanoin before 01 September 2018 under eIND

Treatment:

Other: No Intervention