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Report for Clinical Trial NCT00653666
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
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
1 Interventions
Name: Medically supervised fasting
Description: Metabolic fasting studies will be conducted over an 18-hour period or until blood glucose is < 40 mg/dl. If the YSI reading is 40 mg/dl or less, at any time during the study, then a blood sample will be collected, and the fast terminated by giving D25W IV and then feeding orally.
Type: Other
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
Allocation: Non-Randomized
Single Group Assignment
There is one SNP
SNPs
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 ---