Krabbe Demographic Study

We are collecting the data in this study first and foremost to advocate for Newborn Screening for Krabbe Leukodystrophy. With Newborn Screening families can seek effective treatment which halts the disease process by supplying the missing enzyme through stem cell transplantation. Some children have already been transplanted for Krabbe disease with great success.

This is an INTERNATIONAL STUDY. There are several researchers currently working on a test that will detect Krabbe Disease at birth. In order to make newborn screening for this disease a reality we must show a prevalence rate for Krabbe Leukodystrophy. By participating in this study we are proving that this disease has an incidence rate that will warrant testing at birth. In the United States the incidence rate is 1 in 100,000 births. In Sweden it is 1 in 25,000 births. The Druze people of Israel have an incidence rate of 6 in 1000 births. Sicily Italy, Japan and Australia have also shown that there is a high birthrate of babies born with Krabbe disease in those countries. In finding children from all over the world we are able to show that this disease is much more common than once believed.

The second reason for the study is to expand awareness and support amongst families who have been affected by Krabbe. There is an optional box to check below to let us know if you would for this information to be provided to other families. Raising awareness about the disease helps the family to have more support, better care for the child and understanding of the disease. It also provides support to families who have already lost a child to Krabbe. Raising awareness is a key component in making Newborn Screening a reality.

Thank you for your participation in this study. I will contact you once the study is submitted.

Anne Rugari,
Director of the Demographic Study
email: arugari@cinci.rr.com

View Interactive Demographic Map

Child’s Name:

Child’s Birthplace: (City/State/Country)

Child’s Birth date: (MM/DD/YYYY)

Child’s Date of Death (If applicable): (MM/DD/YYYY)

Child Diagnosed with:

Mutation:

Transplant Date:

Transplant Location:

Mother’s Name:

Mother’s Birthplace: (City/State/Country)

Father’s Name:

Father’s Birthplace: (City/State/Country)

Table 1 summarizes molecular genetic testing for this disorder.

**Table 1. Molecular Genetic Testing for Mutations in the GALC Gene**
Test Method	Mutations Detected	Mutation Detection Rate	Test Availability
Targeted mutation analysis	GALC 30-kb deletion	Infantile Krabbe disease: varies by ethnicity	Clinical
Targeted mutation analysis	GALC 809G>A mutation	Late-onset Krabbe disease: approximately 50% have one copy of the mutation
Sequence analysis	GALC sequence variants	~100%

Interpretation of test results. For issues to consider in interpretation of sequence analysis results, click here. This table provide by GeneTest

Current Residence of Family: (City/State/Country)

Return Email Address:

Mailing Address: Optional

May we provide your information to other families? Optional

Comments:

Type verification image:

We have begun to put forth the information into a displayable format on the internet. Time allowing I hope to have all the information available to date within the next several months. We will continue to make postings as we receive the data.

Please Click here to view the maps in progress.