Astronaut Vision Issues in a Ground Analog Population: Polycystic Ovary Syndrome
Palabras clave
Abstracto
Descripción
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:
1. women diagnosed with PCOS without IIH
2. women diagnosed with PCOS and IIH
3. women diagnosed with IIH without PCOS
4. women without PCOS or IIH Participants will be matched by age and body mass index (BMI). Statistical analyses will be used to evaluate the independent and shared contributions of age, body mass (BMI), and genetics on biochemical, and ophthalmologic outcomes, with False Discovery Rate adjustments to account for multiple comparisons.
A secondary aim is to combine the patient and control data from this study with ISS crewmember data in order to help inform us on whether or not these two cohorts (astronauts with ophthalmic issues, PCOS patients) share similar associations among one-carbon metabolism genetics and biochemistry and ophthalmologic data identified in the investigators' earlier analyses.
fechas
| Verificado por última vez: | 04/30/2020 |
| Primero enviado: | 08/23/2016 |
| Inscripción estimada enviada: | 09/08/2016 |
| Publicado por primera vez: | 09/11/2016 |
| Última actualización enviada: | 05/27/2020 |
| Última actualización publicada: | 05/28/2020 |
| Fecha de inicio real del estudio: | 09/30/2016 |
| Fecha estimada de finalización primaria: | 02/29/2020 |
| Fecha estimada de finalización del estudio: | 11/30/2021 |
Condición o enfermedad
Fase
Grupos de brazos
| Brazo | Intervención / tratamiento |
|---|---|
| Women diagnosed with PCOS without IIH Women diagnosed with polycystic ovary syndrome without idiopathic intracranial hypertension | |
| Women diagnosed with PCOS and IIH Women diagnosed with polycystic ovary syndrome and idiopathic intracranial hypertension | |
| Women diagnosed with IIH without PCOS Women diagnosed with idiopathic intracranial hypertension without polycystic ovary syndrome | |
| Women without PCOS or IIH Women age and body mass index match controls without polycystic ovary syndrome or intracranial hypertension |
Criterio de elegibilidad
| Edades elegibles para estudiar | 18 Years A 18 Years |
| Sexos elegibles para estudiar | Female |
| Método de muestreo | Non-Probability Sample |
| Acepta voluntarios saludables | si |
| Criterios | Inclusion Criteria: - Clinical diagnosis of PCOS and/or IIH - No current medications for the treatment of PCOS - Age and BMI-matched healthy women without PCOS or IIH will be used as controls Exclusion Criteria: - Clinical diagnosis of Cushing's syndrome - Untreated hypo/hyperthyroidism, elevated prolactin, congenital adrenal hyperplasia, renal insufficiency or diabetes. - Currently taking medications that can affect androgen concentrations or insulin sensitivity. - Pregnant, breast-feeding, taking oral contraceptives or currently smoking. - Taking medications that affect folate or B12 metabolism, such as methotrexate, trimethoprim, triamterene, phenobarbital, phenytoin, carbamazepine, gabapentin, or primidone or topiramate. |
Salir
Medidas de resultado primarias
1. Single Nucleotide Polymorphism (SNP) Genetic Testing related to 1-Carbon Metabolism Pathway for 523 SNPs [1 Day]
2. Ophthalmologic exam -OCT [1 Day]
3. Ophthalmologic exam -Fundus [1 Day]
4. Ophthalmologic exam - US [1 Day]
5. Ophthalmologic exam -Vision [1 Day]
6. Ophthalmologic exam -IOP [1 Day]
Medidas de resultado secundarias
1. Questionnaire [1 Day]
2. B-vitamin Status - folate [1 Day]
3. B-vitamin Status - B12 [1 Day]
4. B-vitamin Status - serum B12 [1 Day]
5. Testosterone [1 Day]
6. Hemoglobin [1 Day]
7. Plasminogen Activator Inhibitor Antigen [1 Day]
8. Insulin [1 Day]
9. Homocysteine [1 Day]
