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Report for Clinical Trial NCT00653666

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Metabolic Consequences of CPT1A Deficiency in Alaska Native Children

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


1 P479L

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 ---



HPO Nodes