Help Us Find the Causes of Spina Bifida!

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An estimated 1,000 babies in the United States and 50,000 babies worldwide are born with Spina Bifida each year. While the exact cause is not known, it likely involves multiple factors: genetic, nutritional and environmental. Previous research has established that folic acid, known as vitamin B9, can halve the risk of Spina Bifida when taken by women prior to conception of a child. Just how B9 reduces risk, however, remains a mystery, and Spina Bifida remains irreversible.

The Gleeson Lab at UC San Diego is working to set up an international registry of patients with Spina Bifida and fund new studies investigating how folic acid reduces the risk. This study is supported by a National Institute of Health (NIH) awarded grant from the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

In cooperation with the Spina Bifida Association, Shriner’s Children’s Hospitals, and spina bifida clinics throughout the world, we aim to identify potential causes and underlying mechanisms of this birth defect. We hope these discoveries will lead to prevention of Spina Bifida as well as expanded use of folate by other countries to help them reduce its incidence

Our study is actively recruiting participants who fulfill the criteria below:

• Diagnosed with spina bifida (myelomeningocele, meningocele, lipomeningocele)

*excluded: spina bifida occulta

• Participant can be of any age

• Diagnosed with spina bifida

• Participant and biological parents are willing and able to send saliva samples by mail

• Participant and any living biological parent in the case of deceased or absent parents are willing to send saliva samples by mail. **

For more information:
1. Visit https://www.gleesonlab.ucsd.edu

2. Email gleesonlab@health.ucsd.edu

3. Call (858) 246-0547

** If you are participating without one or both parents in our genetic analysis, please note that we may obtain less detailed information with less participating members compared to families participating as trios. Our focus is on identifying new genetic mutations in the child that are not present in the parents. While we may have more comprehensive results with familial trios, your contribution is still essential, and we appreciate your involvement in spina bifida research!

Untitled Title

What is your first name? *

What is your last name? *

At what email address would you like to be contacted?

At what phone number would you like to be contacted?

What is your mailing address? *

Are the affected individual and both biological parents willing and able to provide saliva samples by mail (ok to be at different addresses)? *

Yes

I need to check

Who in your family has spina bifida? *

I have spina bifida

I am the mother of a child with spina bifida

I am the father of a child with spina bifida

I am a non-parent relative of someone with Spina Bifida

Other

Please provide the first and last name of the affected individual with meningomyelocele.

What is the primary diagnosis of the affected individual?

Meningomyelocele: Open neural tube defect having a visible spinal cord placode on/attached to the skin surface

Meningocele: Closed skin covered malformation, having no spinal cord elements contained within

Terminal myelocystocele: A skin covered malformation containing a ‘sac within a sac’; with or without associated lipoma

Lipomeningomyelocele: Fatty mass attached to the spinal cord

Other:

Clear selection

Was the affected individual diagnosed with hydrocephalus?

Yes

I don't know

Clear selection

Does the affected individual have a VP shunt OR receive in utero surgery OR receive surgery shortly after birth?

Yes

I don't know

Clear selection

Which mobility status best describes the affected individual?

Community Ambulator Without Assistance: Walks indoors and outdoors for most activities, without crutches/braces..

Community Ambulator With Assistance: Walks indoors and outdoors for most activities, with crutches/braces; only uses a wheelchair for long trips.

Household Ambulator: Walks only indoors (with or without braces); Uses a wheelchair for all outdoor activities, and some indoor.

Therapeutic Ambulator: Walks only for therapy sessions; Uses a wheelchair to satisfy needs for transportation.

Non-Ambulator: Exclusively uses a wheelchair

Other:

Clear selection

What is the birthdate of the person with spina bifida? *

YYYY

What is the birthdate of that person's mother?

YYYY

What is the birthdate of that person's father?

YYYY

What is the gender of the person with spina bifida?

Male

Female

Clear selection

(Optional) At what spinal region (e.g. lumbar, sacral, L4, S2) is the spina bifida site?

Besides this person, is there a family history of spina bifida?

Yes

Clear selection

What is the ethnicity of the mother of the person with spina bifida?

Hispanic or Latino

Not Hispanic or Latino

Decline to State

Clear selection

What is the race of the mother of the person with spina bifida?

American Indian or Alaska Native

Asian

Black or African American

White

Decline to state

Other:

Clear selection

What is the ethnicity of the father of the person with spina bifida?

Hispanic or Latino

Not Hispanic or Latino

Decline to state

Clear selection

What is the race of the father of the person with spina bifida?

American Indian or Alaska Native

Asian

Black or African American

White

Decline to state

Other:

Clear selection

Did the mother take folic acid supplements around the time of conception?

Yes

Maybe

Clear selection

How did you find our study? Please specify. (Spina Bifida Association, Clinic, Physician Referral, etc.)

Submit

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