Clinical Trial: Astronaut Vision Issues in a Ground Analog Population: Polycystic Ovary Syndrome
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Astronaut Vision Issues and One Carbon Metabolism: Expanded Polymorphism Evaluation and Evaluation in a Potential Analog Population
Brief Summary: The investigators have documented a genetic predisposition for some astronauts to develop ophthalmologic issues (e.g., choroidal folds, cotton wool spots, optic disc edema). Women with polycystic ovary syndrome (PCOS) have several characteristics similar to those described in astronauts, including: higher homocysteine concentrations, increased incidence of intracranial hypertension, increased retinal nerve fiber layer thickness, increased incidence of white matter hyperintensities on MRI, increased androgen concentrations (or androgen responses to space flight), and indices of altered carbohydrate metabolism. Women with PCOS have not been evaluated in detail regarding the occurrence of other anomalies observed in astronauts including choroidal folds, optic disc edema and cotton wool spots as well as changes in cycloplegic refraction, and optic nerve sheath diameter. While researchers have evaluated one-carbon metabolism pathway polymorphisms re: PCOS, and initial studies show an association with certain one-carbon polymorphisms, none have looked at the complete set of SNPs proposed here. This study will evaluate women with PCOS and/or idiopathic intracranial hypertension (IIH) to assess one-carbon biochemistry and genetics and their possible correlation with ophthalmologic findings. The investigators aim to clarify the relationship of one carbon metabolism and ophthalmic findings in astronauts and patients with PCOS and/or IIH.
Detailed Summary:
Evidence from initial analysis of 5 SNPs in the one-carbon metabolism pathway suggests that one-carbon pathway genes may predict risk of ocular changes and possible vision impairment during and after long-duration space flight. It is not precisely known whether it is these particular genes, or a haplotype of genes that are linked to these genes, that influence risk. Furthermore, ancestry is a strong factor that predicts SNP occurrence in a population, and the association between one-carbon metabolism and the risk of vision-related issues may simply stem from the fact that one particular ancestry has a higher prevalence of these SNPs.
The investigators propose that there are other SNPs in the one-carbon metabolism pathway that alter risk of ocular changes and potential vision impairment during long-duration spaceflight. To that end, extended studies of one-carbon genetics in astronauts have recently been initiated. The investigators hypothesize that the differences between genetic, biochemical, and ophthalmologic findings in PCOS and/or IIH patients and controls will mirror many of the differences found between astronauts who had ophthalmic issues during and after flight.
SPECIFIC AIMS
The key aims of this study are to: a) determine extensive one carbon pathway and related biochemistry, targeted metabolomics, and genetics (523 SNPs of the 85 major genes), and b) conduct ophthalmologic exams on patients in one of four treatment groups:
- women diagnosed with PCOS without IIH
- women diagnosed with PCOS and IIH
- women diagnosed with IIH without PCOS
- women without PCOS or IIH Participants will be ma
Sponsor: National Aeronautics and Space Administration (NASA)
Current Primary Outcome:
- Single Nucleotide Polymorphism (SNP) Genetic Testing related to 1-Carbon Metabolism Pathway for 523 SNPs [ Time Frame: 1 Day ]
- Ophthalmologic exam -OCT [ Time Frame: 1 Day ]Optical coherence tomography test
- Ophthalmologic exam -Fundus [ Time Frame: 1 Day ]Fundus photography
- Ophthalmologic exam - US [ Time Frame: 1 Day ]Eye ultrasound exam
- Ophthalmologic exam -Vision [ Time Frame: 1 Day ]Cycloplegic refraction test
- Ophthalmologic exam -IOP [ Time Frame: 1 Day ]Intraocular pressure
Original Primary Outcome: Same as current
Current Secondary Outcome:
- Questionnaire [ Time Frame: 1 Day ]Questions related to birthplace, as well as birthplace of parents and grandparents, if known
- B-vitamin Status - folate [ Time Frame: 1 Day ]Serum Folate measurement
- B-vitamin Status - B12 [ Time Frame: 1 Day ]Methylmalonic acid
- B-vitamin Status - serum B12 [ Time Frame: 1 Day ]Serum vitamin B-12
- Testosterone [ Time Frame: 1 Day ]
- Hemoglobin [ Time Frame: 1 Day ]
- Plasminogen Activator Inhibitor Antigen [ Time Frame: 1 Day ]
- Insulin [ Time Frame: 1 Day ]
- Homocysteine [ Time Frame: 1 Day ]
Original Secondary Outcome: Same as current
Information By: National Aeronautics and Space Administration (NASA)
Dates:
Date Received: August 24, 2016
Date Started: October 1, 2016
Date Completion: November 2019
Last Updated: April 10, 2017
Last Verified: April 2017
