Our pediatric BMT program is an international leader in transplantation of patients with IMSD. Since 1982, University physicians have performed over 300 transplants for these rare and otherwise fatal diseases.
As expertise with blood and marrow transplants has increased, this treatment has been applied to a wider variety of disorders, including some which are not cancer-related or diseases that affect the bone marrow.
At the University of Minnesota, we have pioneered the use of blood and marrow transplants as treatment for patient with Adrenoleukodystrophy (ALD), Metachromatic leukodystrophy (MLD), or Globoid Cell leukodystrophy (GLD), also called Krabbe Disease. In addition, transplants are used to treat metabolic “storage” diseases, such as Hurler syndrome and Maroteaux-Lamy syndrome.
While these disorders have their own characteristic challenges and complications, they are alike in their ability to cause severe, progressive neurologic deterioration and because they are inherited conditions genetically resulting in the deficiency of a single enzyme.
Blood or marrow transplant from a normal donor (an unaffected HLA-matched family, unrelated donor or unrelated cord blood) can provide replacement of the missing enzyme through the production of healthy white blood cells providing the missing enzyme. In the presence of a source of enzyme the accumulated abnormal material can be cleansed, and the clinical features of the disease arrested or reversed. The indications for transplant in each disease vary.
Collaboration with other institutions and researchers is essential to understand which treatments are most promising in these rare diseases. The International Storage Disease Collaborative Study Group, an international group of researchers and clinicians dedicated to advancing treatment for inherited metabolic storage diseases through collaborative studies and data sharing is based at the University of Minnesota.
Scientists from the University of Minnesota’s Stem Cell Institute, Comprehensive Cancer Center and Medical School provide additional expertise in the areas of stem cell biology, genetics, gene therapy, immunotherapy and immunology to provide our patients with access to the latest technology in treating these diseases.
Dr. Paul Orchard, Assistant Professor and Medical Director of IMSD Program, specializes in transplanting patients with inherited genetic diseases. His laboratory is studying genetic engineering to improve transplant outcomes.
Dr. Jakub Tolar, Assistant Professor, focuses on basic biology of metabolic storage diseases and the implications for individuals with these diseases, as well as patient care.
The IMSD Program Comprehensive Care Team also includes a specially trained team of health professionals to coordinate the care of our patients from referral through treatment and long-term follow-up. These health professionals include: pediatric nurse practitioners/physician assistants, nurse coordinators, research nurse clinicians, nurses, social workers, therapists, and child family life specialists.
Through our long-term follow-up program, we monitor IMSD patients long after BMT to ensure an optimal quality of life for infants, children, adolescents, and adults.
Participation in clinical trials may be another option, one that offers therapy not generally available through standard medical channels. Your primary care physician will discuss the treatment options available to you and your family so that you can make an informed decision.
• Enzyme replacement therapy, either alone or in conjunction with BMT, to improve outcomes and reduce transplant related complications.
• Using a different type of cell with BMT (called multipotent adult progenitor cells or MAPCs) to help regenerate brain, nerve and bone cells.
• Gene therapy and genetic engineering using molecular biology tools to replace a defective gene with a healthy gene, or to insert a piece of DNA into transplanted cells to make the BMT procedure more effective and safer.
For more information about this program, contact Paul Orchard, M.D. at email, firstname.lastname@example.org or 612.626.2961.