Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation
Status:
Unknown status
Trial end date:
2017-12-01
Target enrollment:
Participant gender:
Summary
Nicotinamide nucleotide transhydrogenase (NNT) mutations cause glucocorticoid and
mineralocorticoid deficiencies through decreased detoxification of reactive oxygen species
(ROS) in adrenocortical cells.
Ascorbic acid is well known by its high antioxidant activity due to the neutralization of
free radicals and other reactive oxygen species.
Preliminary results of NNT_p.G200S homozygous fibroblasts' treatment with 10 micro molar
L-ascorbic acid shows significant improvement in mitochondrial morphology and in ROS content.
The aim of this study is to figure out if ascorbic acid treatment improves the phenotype of
NNT patients by reducing ROS in their adrenocortical cells and preventing their apoptosis.
Phase:
N/A
Details
Lead Sponsor:
Hadassah Medical Organization
Collaborators:
Soroka Medical Center Soroka University Medical Center