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Institute of Metabolic Disease
Baylor University Medical Center, Dallas, TX
Charles R. Roe, MD, Medical Director
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.
Commercially
available MCT oil, in the US, contains fatty acids that require
Carnitine palmitoyltransferases I & II, Translocase, VLCAD, LCHAD,
and Trifunctional protein activity for complete oxidation. Current
research in our Institute has identified a fatty acid that does
not require these enzymes for further oxidation and therefore appears
to be very effective for the treatment of these mitochondrial disorders.
Unfortunately, this novel fatty acid is contraindicated for the
treatment of MCAD deficiency since MCAD is required for its
oxidation. Please note: SCAD is no longer being studied
as part of this specific study.
The treatment
protocol includes infants, children and adults (including pregnant
women) who have documented deficiencies of mitochondrial fat oxidation.
These disorders include all clinical phenotypes of 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). A diagnosis
must be established and well documented before a patient can qualify
for the protocol. In addition, each patient's cultured skin cells
must be completely investigated by the Institute of Metabolic Disease
at Baylor (Dallas) to determine if the proposed intervention is
potentially applicable.
Each patient
is admitted for up to 5 days for the initial treatment protocol.
Chemical and metabolic monitoring as well as serial exercise and
muscle strength testing and NMR spectroscopy, as indicated, will
be utilized in the evaluation. The Institute will provide the dietary
components for a period of 18 months (length of the protocol). During
this interval, follow-up visits to Dallas are required at two, six,
twelve, and 18 months.
For further
information regarding the study, expenses and insurance requirements
contact FODRX@baylorhealth.edu
•••
It has come to our attention that there are questions about the
Institute of Metabolic Disease clinical study of C7 (triheptanoin)
for treatment of fatty acid oxidation disorders (see more detailed
info in yellow box on right sidebar). These studies with human
subjects, and appropriate Informed Consent, were approved by the
Institutional Review Board (IRB) of the Baylor Research Institute
at Baylor University Medical Center in December 1999 and annual
reports of the study progress have been reviewed by the IRB. The
study was submitted to the Food and Drug Administration (FDA) and
an Investigative New Drug (IND) was approved in December 1999. Families,
physicians, or other individuals with questions or concerns regarding
our study can contact us at FODRX@baylorhealth.edu
or by calling (214) 820-4533.
Larry Sweetman, PhD larrys@baylorhealth.edu
For the Staff of the Institute of Metabolic Disease
Baylor University Medical Center
3812 Elm Street, Dallas, TX 75226
Phone: (214) 820-4533 Fax: (214) 820-4853
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