SNPMiner Trials (Home Page)
Report for Mutation P479L
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
The purpose of this study is to learn more about how long children with CPT-1 deficiency can
wait between meals without developing low blood sugar or symptoms of low blood sugar. The
other purpose is to learn more about how much fat is stored in the liver of a child with
NCT00653666 Carnitine Palmitoyl Transferase Type 1A (CPT1A) Deficiency Other: Medically supervised fasting
All of the infants are homozygous
for a c.1436C-T sequence variant in the CPT1A gene, which results in the substitution of a
leucine for proline at amino acid position 479 (P479L), and an approximately 80% reduction of
CPT1A activity (non-classic CPT1A deficiency) (7). --- P479L ---
Primary Outcomes Measure: To compare body composition, liver and muscle lipid content, and liver function of Alaska Native children with CPT1A deficiency, with similar measures in their unaffected siblings. Time: February 2009
Secondary Outcomes Measure: To characterize the metabolic response of Alaska Native children with CPT1A deficiency to fasting, Time: February 2009