Overview

Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation

Status:
Unknown status

Trial end date:
2017-12-01

Target enrollment:
0

Participant gender:
All

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

Accepts Healthy Volunteers?

Details

Lead Sponsor:

Hadassah Medical Organization

Collaborators:

Soroka Medical Center
Soroka University Medical Center

Treatments:

Ascorbic Acid
Glucocorticoids
Mineralocorticoids

Criteria

Inclusion Criteria:

- NNT mutation homozygous patients with glucocorticoids deficiency