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

NCT02838472 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 3

Last updated 2016-07-20

No results posted yet for this study

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.

Conditions

  • Glucocorticoids Deficiency

Interventions

DRUG

Ascorbic Acid

Ascorbic acid administration at a doses of 75-80% of the upper limit of allowance according to IOM

Sponsors & Collaborators

  • Soroka University Medical Center

    collaborator OTHER

  • Hadassah Medical Organization

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-06-30
Primary Completion
2017-08-31
Completion
2017-12-31

Countries

  • Israel

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02838472 on ClinicalTrials.gov