Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access Program
- Conditions
- Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
- Interventions
- Other: No Intervention
- Registration Number
- NCT03768817
- Lead Sponsor
- Ultragenyx Pharmaceutical Inc
- Brief Summary
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.
- Detailed 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 20
- 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.
- Unwilling to sign informed consent or assent to release of medical records
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients treated with triheptanoin No Intervention Patients with LC-FAOD treated with triheptanoin before 01 September 2018 under eIND
- Primary Outcome Measures
Name Time Method Number of Critical Medical Assessments Related to LC-FAOD for Trigger Event Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment Duration of Important Interventions for Trigger Event Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment Duration of Hospitalization for Trigger Event Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment Disposition on Discharge of Trigger Event Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
- Secondary Outcome Measures
Name Time Method Number of Critical Medical Assessments Related to LC-FAOD for Other Major Clinical Events Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment Disposition on Discharge of Other Major Clinical Events Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment Number of Important Medical Interventions for Other Major Clinical Events Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment Duration of Hospitalization for Other Major Clinical Events Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Trial Locations
- Locations (15)
Kaiser Permanente
🇺🇸Los Angeles, California, United States
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
UPMC Children's Hospital of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
Seattle Children's Hospital
🇺🇸Seattle, Washington, United States
University of Minnesota Masonic Children's Hospital
🇺🇸Minneapolis, Minnesota, United States
Children's National Hospital
🇺🇸Washington, District of Columbia, United States
Oregon Health and Science University
🇺🇸Portland, Oregon, United States
Children's Hospital of Orange County
🇺🇸Orange, California, United States
Yale University
🇺🇸New Haven, Connecticut, United States
Duke University
🇺🇸Durham, North Carolina, United States
Emory University
🇺🇸Atlanta, Georgia, United States
Children's Hospital of Los Angeles
🇺🇸Los Angeles, California, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Stanford University
🇺🇸Palo Alto, California, United States
University of South Florida
🇺🇸Tampa, Florida, United States