KrabbeConnect

Connecting Patients and Research

Drive research forward! Sign up for KrabbeCURES
Menu
  • Krabbe Disease
    • Newly Diagnosed
      • * Treatment and Resource Maps *
      • Understanding Krabbe Disease
      • Infantile / Late-Onset
      • Diagnosis, Treatment and Clinical Care
      • Transplant 101
    • Patients & Caregivers
      • Connect with a Clinical Expert
      • Genetic Counselor/Care Team Knowledge
      • Advocating for Your Patient
      • Connect with Kevin
    • Newborn Screening
  • Research, Studies & Trials
    • Research, Studies, Trials
      • Experts in Research
      • Krabbe Clinical Trials
      • Science Spotlight
      • Brain and Tissue Banking
    • KrabbeConnect Research
      • Posters
      • Abstracts
  • Get Involved
    • #curekrabbe Projects
      • KrabbeCURES
    • Events
      • Current/Upcoming Events
      • Ongoing Awareness Campaigns
      • Past Events
    • Community Engagement
      • Our Heroes
      • Partner with Us-Family Advised Fund
  • Education
    • Listen and Learn Webinars
    • KrabbeConnect Library
    • Glossary of Terms
  • #curekrabbe Shop
  • Donate
  • About Us
    • About KrabbeConnect
      • Mission & Vision
      • Board Members
      • Scientific Advisory Council
    • Other Information
      • Our Affiliations
      • Bylaws & IRS Forms
      • Contact Us
      

Screening for Krabbe disease: The first 2 years’ experience

October 28, 2019 Krabbe Connect

Pannuzzo, G, Graziano, ACE, Avola, R, Drago, F, Cardile, V. Screening for Krabbe disease: The first 2 years’ experience. Acta Neurol Scand . 2019; 00: 1– 7.

Click here to view publication

Background

Globoid cell leukodystrophy or Krabbe disease (KD) is a lysosomal storage disorder characterized by a deficiency in galactosylceramidase (GALC) which breaks down (hydrolyses) galactosylceramide and galactosylsphingosine (psychosine). The accumulation of psychosine results in the death of myelin-forming cells.

KD is inherited in an autosomal recessive inheritance pattern. Carriers of autosomal recessive disorders are called heterozygotes and typically show no symptoms of leukodystrophy; however, they are at an increased risk of having a child with KD. We all have 2 copies of each gene. Carriers “carry” one good copy of the gene (non-affected copy) and one disease-causing gene. When two (2) carriers have children together, with each pregnancy, there is a 1 in 4 (25%) chance the child will not be affected by the disorder, a 1 in 2 (50%) chance the child will also be a carrier, and a 1 in 4 (25%) chance the child will be affected with KD.

This is a bit easier to show by using what we call a Punnett Square. The Aa on the top represents the father and the Aa on the left of the square represents the mother. The capital A represents the good gene or unaffected gene and the lower- case a represents the disease-causing gene. In the lower-right hand square, you can see by combining the lower-case a (affected gene) of the father and the lower-case a, the affected gene of the mother, there is a 1 in 4 chance of the child being affected with Krabbe disease.
So, now that we understand the inheritance pattern of KD, let’s learn about the goals and findings of this research study.

Summary

  • This study looked to identify the heterozygous carriers of Krabbe disease in Sicily (Italy), to prevent the birth of unborn babies affected by Krabbe disease, and eventually in the presence of positive results for KD, direct them towards a treatment before symptoms occur when it is too late to receive a useful therapy.
  • Due to the high incidence of the late infantile form in Sicily, the authors think that it could be very significant to realize a statistic and systematic study to know the real incidence of KD in this region and to identify the heterozygous carriers of the disease.
  • There are notable practical benefit to families that have had a child with Krabbe disease and researchers who deal with this rare pathology.
  • The results of this study will be useful to know the real incidence of Krabbe disease in a large Italian territory where KD is particularly present and to start a Krabbe’s register, which at present does not exist.

Results & Key Points

  • The study began with the screening of relatives of patients, whose gene variant (often called mutation) was known.
  • It’s important to remember that screening tests are not considered diagnostic. The primary purpose of screening tests is to detect potential health disorders in people who do not have any symptoms.
  • The choice and accuracy of the testing method provided a fast, easy and painless test and defined the target population to be screened.
  • In the last 2 years, the analysis of almost 100 individuals in the Italian region found 40 heterozygous carriers of Krabbe disease. One of the women examined was pregnant.
  • Carrier detection by molecular genetic testing is possible if the disease-causing variants have been identified in the family.
  • Prenatal diagnosis can be performed either by measurement of GALC enzyme activity or by molecular genetic testing if both pathogenic genes (alleles) in an affected family member are known.

Become a Partner

Are you looking to help make a difference for patients and families living with Krabbe disease?  KrabbeConnect wants to collaborate with you! LEARN MORE

Join Our Mailing List

  • This field is for validation purposes and should be left unchanged.

Contact Us

KrabbeConnect
P.O. Box 264
Rosemount, MN 55068-0264

(651) 252-4117
Info@KrabbeConnect.org

OUR VISION

A day in which each patient receives an early diagnosis, has access to state-of-the-art care, and lives a life free of Krabbe disease.

Newly Diagnosed

  • Treatment and Resource Maps
  • Understanding Krabbe Disease
  • Infantile / Late-Onset
  • Testing, Treatment and Clinical Care
  • Transplant for Krabbe Disease Therapy

Patients & Caregivers

  • Connect with a Clinical Expert
  • Genetic Counselor/Care Team Knowledge
  • Advocating for Your Patient
  • Connect with Kevin

Research & Education

  • Research, Studies & Trials
  • Clinical Trial
  • Brain and Tissue Bank
  • Listen and Learn Webinars
  • KrabbeConnect Library
©2021 KrabbeConnect. All Rights Reserved. Website by Rokkit Marketing.
Privacy Policy | Terms & Conditions

Copyright © 2021 · Genesis Framework · WordPress · Log in

Pennsylvania (Opt-In)

Currently Krabbe disease is not automatically screened for in the state of Pennsylvania. Parents must request or “Opt-In” to have Krabbe added to the newborn screening tests done at birth.

Make a Donation