Treatment Protocol for Inherited Disorders of Fat Oxidation

Charles R Roe, MD - has retired from Baylor Medical Center, The Institute of Metabolic Disease in Dallas.  No clinical treatment/research is being done at Baylor, at least as far as FOD Families are concerned. There is no longer an FOD clinical expert on staff.  

Dr Jerry Vockley at Children's Hospital of Pittsburgh is continuing Dr Roe's c7 research study - please read below.

Families that were part of Dr Roe's triheptanoin (or C7 oil) research must notify Dr Vockley's Study Coordinator to continue on therapy.

Contact information:

Stephanie DeWard, MS, CGC
Genetic Counselor/Study Coordinator
Children's Hospital of Pittsburgh of UPMC
4401 Penn Ave.
Faculty Pavilion, Suite 1200
Pittsburgh, PA 15224
Ph: (412) 692-5232 Fax: (412) 692-6472

Update as of Feb 1, 2012: This study is not currently enrolling new patients (patients who have not been on triheptanoin previously).

New patients 7 years and older
can consider the following study:
http://www.fodsupport.org/documents/OHSUc7OilResearchprotocolinfo.pdf

General c7 study info
Inherited defects of mitochondrial beta-oxidation are autosomal recessive disorders. These defects prevent adequate energy production from long-chain fatty acids. During illness or fasting, toxic fatty acids, or their intermediates from partial oxidation, accumulate in most organs. Attempts to treat the long-chain fat oxidation disorders with dietary medium chain triglycerides (MCT) have not been generally successful. Symptoms often persist with standard diet including supplementation with MCT oil, but preliminary data shows triheptanoin may be a more effective dietary substitute.

This study will treat patients 1 year of age and up who have documented deficiencies of mitochondrial fatty acid oxidation including disorders of the following enzymes: Carnitine-Acylcarnitine Translocase (CATR), Carnitine Palmitoyltransferase I and II (CPT I, CPT II), Very-Long Chain Acyl-CoA dehydrogenase (VLCAD), L-3-Hydroxy-Acyl-CoA Dehydrogenase (LCHAD), and Mitochondrial Trifunctional Protein (TFP) with triheptanoin oil. A diagnosis must be established and well documented before a patient can qualify for the protocol.

On study entry, clinical and laboratory assessments will be carried out with the subject on their usual home diet. A complete history and physical exam will be performed. Following analysis of their diet and a negative pregnancy test, subjects will receive a modified diet containing triheptanoin (1-2 grams/kg/24 hours), or continued on their previously established triheptanoin dose. This will be given as a constant G-tube infusion or orally divided into 4 doses. The dose will be adjusted on the basis of safety laboratory monitoring at specific time points and for adverse symptoms. The remainder of their diet will be modified to maintain appropriate caloric intake and balance.

Study subjects will continue the triheptanoin-supplemented diet for a period of 18 months and then be able to continue into an indefinite extension phase in this compassionate use study. Laboratory evaluations will take place at two, six, twelve, and eighteen months, as well as every 6 months in the extension phase. Laboratory tests may be completed at a local lab and the results forwarded to the PI for review between annual visits in Pittsburgh. Patients will monitor their weight at home on a weekly basis. Interim metabolic evaluations will be arranged as needed on a clinical basis with the study PI or the subject's home metabolic physician. Following the initial 18 months of the protocol, subjects will be placed on a continuing schedule for maintenance of triheptanoin therapy with a yearly follow up visit for an undeterminable period of time.

Travel to Pittsburgh, PA at the start of the study and annually is the responsibility of the subjects. Additionally, there may be study costs that insurance will not cover and subjects will be responsible for covering them. Examples of out-of-pocket study costs subjects may incur in addition to travel expenses including the following: triheptanoin (C7) oil, clinic visits, necessary laboratory testing.