Understanding Effects of Folic Acid on the Methylosome and Transcriptome of Women With Spina Bifida Affected Pregnancies

N/AActive Not RecruitingNCT05500690

Boston Children's Hospital69 enrolled

Overview

Folic acid is currently considered to be the standard of care for primary and secondary prevention of spina bifida, but the mechanisms underlying folic acid's benefits are unknown. One hypothesis is that folic acid changes DNA methylation and transcription of genes important in neural tube closure. In this study, the investigators will evaluate how DNA methylation of genes associated with neural tube closure changes after a short course of standard-of-care folic acid supplementation. In addition, the investigators will assess whether environmental arsenic exposure modifies the effects of folic acid on the methylosome.

The investigators will encourage women who have recently had a pregnancy affected by spina bifida to take daily folic acid supplements for three months. Folic acid supplementation is considered standard of care for primary and secondary prevention of spina bifida. The investigators will compare DNA methylation in blood and folate levels before and after folic acid use.

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Pregnancy; Spina Bifida, Fetal Environmental Exposure

Eligibility

Sex: FEMALEMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Women (18+) with a prior pregnancy affected by spina bifida * Available for required study visits Exclusion Criteria: * Personal history of diabetes or gestational diabetes * Current anticonvulsant medication use * History of pregnancy affected by identified genetic syndrome associated with neural tube defect such as Trisomy 18 * Current pregnancy * Abnormal peripheral blood film results (suggestive of megaloblastic anemia/B12 deficiency.)

Outcomes

Primary Outcomes

Changes in DNA Methylation patterns

The investigators will use DNA methylation arrays to compare methylation patterns before and after course of folic acid.

Time frame: Week 1 and Week 12

Secondary Outcomes

Changes in serum folate concentration

Chemiluminescent Microparticle Immunoassay will be used to measure folate concentration. The investigators will assess changes in serum folate concentration before and after folic acid use.