Cincinnati Children’s Hospital Medical Center Study

Hydrocephalus Understanding Genes and Signaling Patient Study

This study is temporarily on hold

Location

HUGS Sign Up Cincinnati Children’s Hospital Medical Center
3333 Burnet Ave.
Cincinnati, OH 45229

Background

Why is this research being done?

The purpose of this study is to identify genes and signaling pathways that lead to and are associated with the genesis (start) of hydrocephalus in adults and children.

What are they doing?

The study will focus on obtaining CSF and blood samples from eligible subjects and collecting pertinent clinical information for each patient with a chart review and medical history form. When possible, the research team will also recruit biologically related family members and control subjects undergoing neurosurgical interventions. The team will look for the molecular signaling and genetic pathways that are responsible for the start of hydrocephalus and will identify any cells in the CSF that may be affected or contributing to this disease. We will also study the DNA and RNA from the blood samples to perform exome sequencing. The central hypothesis is that abnormal development of specific progenitor cells contributes to the genesis of hydrocephalus through aberrant molecular and genetic signaling. A major issue that will be addressed with these studies includes identifying the genetic alterations that will result in hydrocephalus.

Study Participants

Who is eligible to participate in this study?

This study is looking for people of any age, even people without hydrocephalus, and is recruiting locally, regionally, and nationally.

Unfortunately, Normal Pressure Hydrocephalus patients are not eligible.

The groups being studies are:

Control Group – Unaffected individuals that do not have hydrocephalus; Not a family member of a subject.
Family Member – Biological family member of subjected; Either have hydrocephalus or are unaffected
Subject – Individual with hydrocephalus

Eligibility:

Gender: Both
Age: All Ages

Inclusion criteria
  • Individuals of all ages: neonates / infants (<1 year of age), children / adolescents (≥ one year of age to 18 years of age), and adults (18 years of age or older).
  • Individuals with or without previous diagnosis of hydrocephalus.
  • Individuals undergoing a standard, clinically-indicated procedure that involves assessing CSF samples (lumbar puncture, external ventricular drain, shut tap, shunt surgery, craniotomy).
Exclusion criteria
  • Individuals will not be eligible for the study should their etiology of hydrocephalus be bacterial meningitis, as diagnosed by routine microbiological studies. Inflammation from infection may cause a difficult interpretation of the protein studies and may harbor the presence of bacteria. We will therefore exclude subjects with this diagnosis.
  • Individuals will also be excluded where aspiration of CSF is deemed to be unnecessary by the clinical attending pediatric neurosurgeon.

Study Components – please see the 3 ways to participate!

If you  have hydrocephalus and live near Cincinnati Children’s Hospital Medical Center:

Step 1:
Sign up to see if you are eligible for the study. Click HERE!

Step 2:
If you are eligible, the research team will contact you to complete the demographic, medical history, and contact information forms.

Step 3:
Provide a blood sample.

Step 4.
Provide a cerebrospinal fluid (CSF) sample if it is already being drawn off for your medical care. The fluid will be collected whenever CSF is scheduled to be removed as part of your normal clinical care. No additional procedures are requires for this study. We only draw off the CSF that needs to be removed as part of normal clinical studies and will not remove excess CSF for this study.

If you have hydrocephalus but do not live near Cincinnati Children’s Hospital Medical Center:

Step 1:
Sign up to see if you are eligible for the study. Click HERE!

Step 2:
If you are eligible, the research team will contact you to complete the demographic, medical history, and contact information forms.

Step 3:
Provide a blood sample. Collection details will be provided by the research team.

If you DO NOT have hydrocephalus:

Step 1:
Sign up to see if you are eligible for the study. Click HERE!

Step 2:
If you are eligible, the research team will contact you to complete the demographic, medical history, and contact information forms.

Step 3:
Provide a blood sample. Collection details will be provided by the research team.

 

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