Pediatric Blood & Marrow Transplantation Center
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Hurler syndrome (Mucopolysaccharidosis type 1H)

University of Minnesota Masonic Children’s Hospital has the broadest experience in transplantation for patients with Hurler syndrome in the United States. The care provided is individually tailored to meet the unique needs of each patient and family. Our team of expert health care providers who specialize in Hurler syndrome applies leading-edge research developed by University of Minnesota scientists.

We were the first institution in the United States to offer Hurler patients intravenous enzyme replacement therapy in conjunction with BMT. We continue to investigate the ability of this combination to improve outcomes for children with Hurler syndrome. Our Hurler Comprehensive Care Program, combined with leading research and long-term follow-up, is one reason the University of Minnesota Masonic Children’s Hospital is a national referral center for diagnosing, monitoring and treating children with Hurler syndrome.

General overview

Hurler syndrome is a rare, inherited metabolic disorder in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (sometimes called mucopolysaccharides). This is because people with Hurler are missing a key enzyme (alpha-L-iduronidase). These glycosaminoglycans (also called GAG) build up in many tissues in the body causing progressive deterioration. The disease was first described in 1919 by German physician Dr. Gertrud Hurler.

Babies with Hurler syndrome are most often diagnosed by age 2, but as the storage material (GAG) builds up, signs and symptoms begin to appear. Early symptoms include frequent colds and ear infections, noisy breathing, changes in bone growth and increased size of the liver and/or spleen. Without therapy, children with Hurler syndrome will develop distinctive facial features, vision problems (due to clouded cornea), severe heart problems (as the coronary arteries narrow and the heart valves thicken) and profound mental retardation.

Without treatment, prognosis is poor for children with Hurler syndrome; most patients die between ages 5 and 10 years of age.

Incidence

Hurler syndrome affects one in 100,000 people.

At diagnosis

In Hurler syndrome, early detection and treatment is critical. When a child receives a diagnosis, the goal is to plan for a BMT.

Because children with Hurler syndrome have unique medical needs, our comprehensive care team includes not only world-renowned specialists in BMT, but also neurologists, endocrinologists, neuropsychologists, cardiologists, pulmonologists and orthopaedic specialists. We work together to create an individualized monitoring and treatment plan for each patient.

Blood and Marrow Transplant

A transplant is the only treatment proven to stop the progression of neurologic and development problems associated with Hurler syndrome. A successful transplant leads to a continual supply of normal enzyme from the donor's healthy blood stem cells. This can halt the progression of damage to the brain, vital organs and other body tissues.

In addition to transplant, our Hurler syndrome patients have the option of receiving enzyme therapy before and after transplant. This provides the patient with the critical missing enzyme during the time between diagnosis and when the new donor blood stem cells fully engraft. The goal is to help clear the storage material from the organs during this waiting period. This can take several months and may make transplant safer. Additionally, our center is studying the addition of intrathecal enzyme replacement (enzyme delivered directly into the fluid surrounding the brain) for children with Hurler syndrome who are undergoing BMT. The hope is that such therapy will provide even better long-term cognitive outcomes for Hurler children.

Following successful transplant, patients typically do not suffer further cardiac deterioration and the accumulated GAG in the liver, lungs, and marrow slowly disappear. Vision and hearing may improve post-transplant, as well. In addition, the patient's cognitive function will typically stabilize.

Thus the most successful transplants are those that are performed as soon as possible after diagnosis. Transplants performed after age 2 have had more disappointing results, because a BMT cannot repair the considerable amount of damage already done, especially to the brain.

Learn more about what to expect during the transplant process.

While our entire blood and marrow transplant team is involved in the care of our patients, the following providers lead the care and treatment plans for patients with Hurler syndrome:

Troy Lund

Wes Miller

Paul Orchard

We continue to explore novel ways to effectively treat and improve quality of life for patients with Hurler syndrome. We also collaborate with other researchers throughout the world, keeping our program at the forefront of Hurler syndrome care worldwide. Learn more about current research projects here.

Hurler syndrome transplant patients may be eligible for clinical trials, taking advantage of the latest breakthroughs in therapies and treatments. View a list of open trials.

If you would like to gather more information about Hurler syndrome, please reference the following recommended sources:

National Library of Medicine
National MPS Society

Journey Clinic - Pediatric Blood and Marrow Transplantation Center

2450 Riverside Avenue
Minneapolis, MN 55454
612-365-1000
612-365-1000 TTY: 612-672-7300

For information about the Adult Blood and Marrow Transplantation program, click here:

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We have been providing innovative care to children in need of a blood and bone marrow transplant for over 40 years. Call us, we're here to help.

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