Clinical trial NCT03768817: Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access Program
Official title: A Retrospective Chart Review Study to Assess the Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access Program
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Keywords: Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Triheptanoin
Lead sponsor: Ultragenyx Pharmaceutical Inc
Sponsor class: INDUSTRY
First posted: 2018-12-07
Enrollment: 20
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Medical records of patients in the USA with LC-FAOD who received triheptanoin via eIND request from their metabolic or treating physician before 01 September 2018.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Duration of Hospitalization for Trigger Event
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
measure: Disposition on Discharge of Trigger Event
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
measure: Duration of Important Interventions for Trigger Event
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
measure: Number of Critical Medical Assessments Related to LC-FAOD for Trigger Event
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Secondary outcomes:
measure: Duration of Hospitalization for Other Major Clinical Events
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
measure: Disposition on Discharge of Other Major Clinical Events
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
measure: Number of Important Medical Interventions for Other Major Clinical Events
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
measure: Number of Critical Medical Assessments Related to LC-FAOD for Other Major Clinical Events
timeFrame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Children's Hospital of Los Angeles
state: California
city: Los Angeles
country: United States
facility: Kaiser Permanente
state: California
city: Orange
country: United States
facility: Children's Hospital of Orange County
state: California
city: Palo Alto
country: United States
facility: Stanford University
state: California
city: New Haven
country: United States
facility: Yale University
state: Connecticut
city: Washington
country: United States
facility: Children's National Hospital
state: District of Columbia
city: Tampa
country: United States
facility: University of South Florida
state: Florida
city: Atlanta
country: United States
facility: Emory University
state: Georgia
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Minneapolis
country: United States
facility: University of Minnesota Masonic Children's Hospital
state: Minnesota
city: Durham
country: United States
facility: Duke University
state: North Carolina
city: Portland
country: United States
facility: Oregon Health and Science University
state: Oregon
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Pittsburgh
country: United States
facility: UPMC Children's Hospital of Pittsburgh
state: Pennsylvania
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
Study officials:
affiliation: Ultragenyx Pharmaceutical Inc
name: Medical Director
role: STUDY_DIRECTOR
References: