Leukodystrophy

The University of Utah Leukodystrophy Clinic (a certified Leukodystrophy Care Network Center) accepts referrals for evaluation, diagnosis, and treatment of inherited leukodystrophies. If families are interested, they can enroll in the Western Leukodystrophy Project, one of the largest longitudinal studies of children with leukodystrophies. Requests for referrals should be initiated through our Clinical Website or by contacting Dr. Josh Bonkowsky or Dr. Gary Nelson directly by email.

Clinical Studies

Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of 1:7500 live births. Some leukodystrophies can be diagnosed using conventional testing methods (neuroimaging, biochemical and genetic testing), but a majority remain undiagnosed. Thus, there is a need to classify leukodystrophies (clinically and molecularly) to better understand their pathophysiology, aid in prognosis and remediation, and develop new therapies. Our work aims to characterize the clinical history of the leukodystrophies, and then extend this knowledge towards patients with undiagnosed leukodystrophies.

Our recent work has shown that leukodystrophies are more common than previously thought and have a significant health care burden (see Bonkowsky et al., Neurology, 2010).

Basic Science Studies

Our group is developing small vertebrate models to study the pathogenesis of leukodystrophies, as well as to identify new treatments.

Donating

You can support important research at the University of Utah, Department of Pediatrics to find a cure for Leukodystrophy. A special fund has been set up at Primary Children's Hospital Foundation to support this work. You will receive a receipt and your gift is fully tax deductible to the extent allowed under IRS rules.

To make a donation for Leukodystrophy Research, mail your donation check to:

Primary Children's Hospital Foundation
Leukodystrophy Research
PO Box 58249
Salt Lake City, UT 84158

Contact: Joshua.Bonkowsky@hsc.utah.edu

 

Leukodystrophy Care Network/LCN Certified

The University of Utah Department of Pediatrics and Primary Children's Hospital, Western Leukodystrophy Project, operate a center for leukodystrophy care (Leukodystrophy Care Center).

Contact information:

Center Director: Josh Bonkowsky, joshua.bonkowsky@hsc.utah.edu, 801-213-3599

Care Coordinator: Emily Maynes Hardy, emily.hardy@hsc.utah.edu, 801-213-7701 (Office) 801-213-7739 (Fax)

The University of Utah Leukodystrophy Clinic, working with Primary Children's Hospital, accepts referrals for evaluation, diagnosis, and treatment of inherited leukodystrophies. If families are interested, they can enroll in the Western Leukodystrophy Project, one of the largest longitudinal studies of children with leukodystrophies. The program works nationally and internationally on clinical and drug trials with foundations and support groups including ALD Connect, GLIA (The Global Leukodystrophy Initiative), Hunter's Hope/Leukodystrophy Care Network, and the ULF (United Leukodystrophy Foundation).

The University of Utah Leukodystrophy Clinic was established in 2004, and has cared and treated hundreds of children and adults with leukodystrophies.  We accept referrals and consults from around the country and internationally.

The University of Utah and Primary Children's has a complete range of clinical services, ranging from specialized clinical and research genetic testing; bone marrow and stem cell transplants; physical and speech therapy; and specialists in every pediatric sub-specialty.

 The University of Utah is a LCN Certified Center, meeting or exceeding the Criteria for LCN Center Certification, link - https://huntershope.org/family-care/leukodystrophy-care-network/lcn-care-centers/

The Leukodystrophy Care Network (LCN) is a community of affected families, organizations and medical providers committed to revolutionizing the health and quality of life of individuals affected by Leukodystrophies with proactive, innovative, and comprehensive medical care standards and specialized centers. To learn more, please visit the LCN website - leukodystrophycarenetwork.org

CONTACT US

Phone: 801-213-3599
Fax: 801-587-7539

Department of Pediatrics
Division of Pediatric Neurology

81 N Mario Capecchi Drive
Salt Lake City, UT 84113

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