SNPMiner Trials (Home Page)
Report for Mutation P479L
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There is one clinical trial. 
Clinical Trials
      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
      CPT-1 deficiency.
    
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
HPO Nodes