Medication
A treatment procedure called stem cell transplantation may improve the course of Krabbe disease when administered in the first weeks of life. For infants who have already developed symptoms of Krabbe disease, there is currently no treatment that can change the course of the disease.
Procedures
It's free to patients, parents, and guardians of Children's Hospital of Pittsburgh of UPMC. When a child has a rare disease like Krabbe, it affects the whole family.
Therapy
In some cases, Krabbe disease is diagnosed in newborns with screening tests before symptoms appear. Conversations with your child's doctor and a specialist in nervous system disorders (neurologist) would begin as soon as a diagnosis is confirmed.
Is there a cure for Krabbe disease?
Hematopoietic stem cells are specialized cells that can develop into all of the different types of blood cells in the body. These stem cells are also the source of microglia, specialized debris-eating cells that take up residence in the nervous system. In Krabbe disease, microglia are transformed into toxic globoid cells.
How much does Krabbe's treatment cost?
How is Krabbe disease diagnosed?
How are stem cells involved in Krabbe disease?
What is the treatment for Krabbe disease?
There is no specific treatment for Krabbe disease. Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks.
Can Krabbe be prevented?
How can Krabbe disease be prevented? If both parents carry the genetic defect that causes Krabbe disease, there's a 25 percent chance that the child will inherit two copies of the defective gene and therefore have the disease. The only way to avoid the risk is if the carriers decide to not have children.
Can Krabbe disease be misdiagnosed?
Early Infantile Krabbe Disease (EIKD) Initially, it is often misdiagnosed as colic, reflux, food/milk allergy, or even Cerebral Palsy. Within the first few months of life, affected babies begin to show symptoms.
Is Krabbe disease more common in males or females?
Affected Populations. About 1 in 100,000 newborn babies in the United States is affected with Krabbe's Leukodystrophy. Males are affected as often as females.
Can Krabbe disease be detected before birth?
A blood test can be performed to detect the mutated gene in the parents. PrenatalPrenatal, which can also be referred to as antenatal, is anytime before the birth of the baby tests such as amniocentesis or chorionic villus sampling can also screen for the presence of this disease in the developing baby.
Is Krabbe disease hereditary?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
How is Krabbe diagnosed?
A genetic test may be done with a blood sample to confirm a diagnosis. There are variant forms of the mutated gene that results in Krabbe disease. The particular type of mutation may provide some clues regarding the expected course of the disease.
How do you test for Krabbe disease?
To screen for Krabbe Disease, some laboratories use a machine called a tandem mass spectrometer to measure the GALC enzyme in the dried blood spots. Low levels of the GALC enzyme mean a higher risk for Krabbe Disease. Babies with low levels need a second screening step.
Which states test for Krabbe disease?
In addition to New York, three other states—Missouri, Kentucky and Ohio, have added Krabbe disease to their Newborn screening panels. Six other states — Illinois, Louisiana, New Jersey, New Mexico, Pennsylvania and Tennessee — have passed laws that would allow screening but have not yet implemented their programs.
What gene causes Krabbe disease?
Symptoms of the later-onset types of Krabbe disease may include muscle weakness and stiffness, loss of milestones, blindness, behavior problems, dementia, and seizures. Krabbe disease is caused by genetic variants in the GALC gene and is inherited in an autosomal recessive pattern.
How old is a baby when it gets krabbe disease?
Krabbe Disease Symptoms. The symptoms of infantile Krabbe disease normally occur by the time a baby is six months old. Some of the first symptoms of this disease include: Unusual fussiness or irritability. Poor feeding.
What is the effect of Krabbe on a baby?
The effects of this disease can be severe, leading to death. In Krabbe, the body can't make an enzyme called galactosylceramidase. This leads to a loss of myelin, which protects the body's nerves, and causes nerve damage.
Is Krabbe disease inherited?
Globoid Cell Leukodystrophy. Krabbe disease ("crab-A") is also known globoid cell leukodystrophy. Krabbe disease is an inherited disorder, which means parents pass the gene for the disease to a child. Because it's an inherited condition, couples may have more than one child with this disease. This is a rare condition.
Can a doctor test for krabbe?
Diagnosing Krabbe Disease. In some states, but not all, doctors routinely test newborns for Krabbe disease. At your child's appointment, the doctor will examine your child. If he or she suspects Krabbe, your baby will need to have a blood test and an MRI ..
Is there a cure for Krabbe disease?
Right now, there is no cure for Krabbe disease. Children with this disease benefit from supportive therapy, and closely following the progression of their disease. An umbilical cord blood transplant has extended many children’s lives.
Treatment for Krabbe Before the Onset of Symptoms
Stem Cell Transplantation (HSCT) has been shown to significantly extend life and improve the quality of life for children with Krabbe Leukodsytrophy; it is currently our most effective treatment for Krabbe. Doctors transfuse healthy, unrelated donor cells with normal GALC enzyme activity, into the Krabbe patient.
Disease-Management After the Onset of Symptoms
After a child becomes symptomatic, treatment consists of managing symptoms to make the child comfortable as the disease takes its course. Disease-management often includes:
What are the complications of Krabbe disease?
Once you have received a firm diagnosis of late-onset Krabbe disease, the treatment options are focused on improving quality of life . With the late-onset form, often hematopoietic stem cell transplant ( HSCT) is an option for patients; however, it will be vital to connect with an expert well trained in Krabbe disease and HSCT to fully understand the risks, benefits, and outcomes associated with the unique neurological impact of KD. It has been clinically and scientifically proven that the earlier one receives an HSCT in late-onset KD, the higher the likelihood of slowing the progression of the disease.
What is a KD test?
This section covers when a diagnosis of Krabbe disease (KD) occurs prior to birth, using amniocentesis, or completed at birth via the Newborn Screening Panel (NBS), or with an enzyme assay test. Parents screening a child in utero with amniocentesis are doing so due to a previous case of Krabbe disease within the immediate family. Screening for KD at birth is not common practice however, intermittent grassroots advocacy, carried out by affected families, has influenced some changes. In August 2006, when New York State instituted newborn screening for Krabbe disease, 3 other states have followed suit; Kentucky, Missouri, and Illinois.
Is there a screening for KD at birth?
Screening for KD at birth is not common practice however, intermittent grassroots advocacy, carried out by affected families, has influenced some changes. In August 2006, when New York State instituted newborn screening for Krabbe disease, 3 other states have followed suit; Kentucky, Missouri, and Illinois.
Can a KD stem cell transplant end?
Treating infantile KD diagnosed early in life does not end after a hematopoietic stem cell transplant is performed. It’s important for you to know that transplanted children can encounter complications from the transplant such as, liver damage or interstitial pneumonia in addition to disease complications such as weakness or pain in their arms andor legs. Consequently, post-transplanted children need to be closely monitored by a team of experts to manage all medical, physical, and psychological aspects to ensure your child the best chance at a successful life.
Protocol Description
The purpose of this study is to assess the safety and potential effectiveness of using gene therapy for infants with Krabbe disease following hematopoietic stem cell transplantation (HSCT), the current standard of care.
Eligibility Criteria
Subject to certain exclusion criteria, this study is enrolling infants from birth through 12 months of age who have been diagnosed with Krabbe disease. Males and Females: Birth through 12 months
Requirements
Participants will be given chemotherapy about 10 days before HSCT, and a one-time dose of FBX-101 will be administered about 21 days later, including a 2-week hospital stay for monitoring.
Contact Information
For more information about the study or enrollment, please contact: Brie Yanniello, NDRD Program Coordinator 412-692-6350
