Brief Summary

Spina bifida, particularly its most severe form known as open spina bifida (myelomeningocele), is a significant congenital disorder that results in profound neurological impairments, including Chiari II malformation. This malformation is associated with the downward displacement of the cerebellum and brainstem into the spinal canal, often leading to hydrocephalus, a condition where cerebrospinal fluid (CSF) accumulates in the brain1. These conditions can result in a range of complications, including cognitive and motor disabilities, learning difficulties, and, in severe cases, early mortality1,2. While surgical interventions, including prenatal and postnatal surgeries, have been developed to manage the physical manifestations of spina bifida and Chiari II malformation, these procedures have not been fully successful in addressing the associated brain anomalies3. This study aims to explore the hypothesis that the composition of CSF plays a critical role in the development of these brain defects. Specifically, it is hypothesized that the rapid replenishment of CSF, due to its leakage from the open spine in spina bifida, results in a "less mature" fluid composition, which negatively affects neurogenesis and neuronal migration during critical periods of brain development.

Trial Health

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Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment

participants targeted

Target at below P25 for all trials

Timeline

15mo left

Started Sep 2024

Typical duration for all trials

Status

not yet recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

2.9 years study duration

Study Progress58%

Sep 2024Aug 2027

First Submitted

Initial submission to the registry

August 12, 2024

Completed

7 days until next milestone

First Posted

Study publicly available on registry

August 19, 2024

Completed

13 days until next milestone

Study Start

First participant enrolled

September 1, 2024

Completed

1 year until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2025

Completed

1.9 years until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2027

Expected

Last Updated

August 21, 2024

Status Verified

August 1, 2024

Enrollment Period

1 year

First QC Date

August 12, 2024

Last Update Submit

August 19, 2024

Conditions

Myelomeningocele Brain Malformation Chiari Malformation Type 2

Keywords

myelomeningoceleChiari type 2brain malformationscognitive impairmentcerebrospinal fluid

Outcome Measures

Primary Outcomes (2)

Identification of Proteins in Cerebrospinal Fluid (CSF)
The presence of specific proteins in cerebrospinal fluid (CSF) will be identified through proteomic analysis. This outcome will focus on categorizing which proteins are present in the CSF samples from patients with spina bifida and control participants.
1 year
Quantification of Protein Concentrations in Cerebrospinal Fluid (CSF)
The concentration of each identified protein in cerebrospinal fluid (CSF) will be measured using proteomic analysis. This outcome will report the amount of each protein present in the CSF, expressed in micrograms per milliliter (µg/mL) or nanograms per milliliter (ng/mL), allowing for comparison between patients with spina bifida and controls.
1 year

Secondary Outcomes (2)

Measurement of Neurogenesis in Median Ganglionic Eminence (MGE) Cultures
1 year
Measurement of Neuronal Migration in Median Ganglionic Eminence (MGE) Cultures
1 year