Krabbe Disease

Dr. Maria Escolar and the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at Children's Hospital of Pittsburgh of UPMC

Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbe disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and causes severe deterioration of mental and motor skills. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of a number of different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The early-infantile form of this disease affects infants, with onset before age 6 months. There is a late infantile onset and Krabbe disease can also occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.

Source: National Institute of Neurological Disorders and Stroke (NINDS)

Research

Since 2009, Krabbe disease research and educational programs have received significant funding from The Legacy of Angels Foundation, as it strives towards the advancement of improved health outcomes for families of/and those affected with Krabbe disease. 

TLOAF continues to look for partnership opportunities to advance research for Krabbes disease.  Please check out grants funded for krabbe disease on our funded grants page.

Programs

Transplant Program

Dr. Paul SzabolcsChildren's Hospital of Pittsburgh Pediatric Blood and Marrow Transplantation (BMT) and Cellular Therapies

Led by Dr. Paul Szabolcs, Chief of the Division of Blood and Marrow Transplantation and Cellular Therapies. The clinical mission of the Division of Blood and Marrow Transplantation and Cellular Therapies is to design and test disease-specific and Biologically rational novel reduced-toxicity transplantation regimens for patients with high-risk leukemia or lymphoma, and for those afflicted with life-threatening inherited conditions that can lead to bone marrow failure, immune deficiency, autoimmune diseases, and neurodegenerative conditions including but not limited to leukodystrophies and mucopolysaccharidosis syndromes.

Neurodevelopmental Program

Dr. Maria EscolarDr. Maria Escolar, Program for the Study of Neurodevelopment in Rare Disorders (NDRD), Children's Hospital of Pittsburgh

The Program for the Study of Neurodevelopment in Rare Disorders (NDRD,) led by Dr. Maria Escolar, at Children’s Hospital of Pittsburgh of UPMC, focuses on Krabbe’s disease and other leukodystrophies.

This world-renowned clinic is committed to helping children with these rare, inherited neurological conditions and their families through clinical care, research, and training.

Dr. Maria Escolar cares for more children born with Krabbe’s disease, than any physician in the world, thus making her the world-wide recognized clinical expert in Krabbe’s disease.

Her clinical services include medical management, therapeutic and educational interventions, and equipment recommendations. The NDRD Virtual Medical Home extends clinical care beyond the day of the visit by allowing her staff to communicate with families and local healthcare providers.

Its research focuses on neurobehavioral outcomes and neuroimaging, which helps with a better understanding of early brain development in rare disorders. Because they provide ongoing services for more than 600 patients, they have the largest database of neurobehavioral outcomes in the world.

Collaboration with other researchers around the world is focused on accelerating the translation of research discoveries to clinical therapies.

The NDRD provides unique multidisciplinary training for medical students, residents, fellows, and other clinicians. In addition to the fellowship in developmental and behavioral pediatrics, this highly unique program offers rotations for graduate and postdoctoral students in different medical specialties, psychology, speech/language pathology, audiology, physical therapy, occupational therapy, nutrition, education, social work, biostatistics, and nursing.

This world-renowned clinic is committed to helping children with these rare, inherited neurological conditions and their families through clinical care, research, and training.

Through these efforts Dr. Escolar’s goal is to improve the child’s quality of life and help them develop to their full potential.

Resources for Families

The following links are for informational and educational purposes. Listing these resources does not mean that The Legacy of Angels Foundation endorses or recommends them.

Lily's Gift

Using Cord Blood to Treat Neurodegenerative Diseases