SNPMiner Trials by Shray Alag

SNPMiner SNPMiner Trials (Home Page)

Report for Mutation P479L

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 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 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