Leukodystrophy Clinical Practice Guidelines (CPG) will establish a published, peer-reviewed standard of care to ensure that individuals with Leukodystrophy have the best possible medical care, improving length and quality of life. The LCN helps its accredited Centers provide a standard of Leukodystrophy care with guidelines based on the latest research, medical evidence and consultation with experts on best practices. The CPG focus areas were determined through the LCN’s Clinical Issues Survey, which had over 300 participants affected by Leukodystrophies. CPG Lead Authors and workgroups are comprised of family advocates and medical providers from LCN Candidate Centers. The CPGs will be an on-going process to continue improving the standard of care for Leukodystrophy patients.

To ensure that we maintain the best and most up-to-date CPGs possible, we need your input. If you are a family affected by a Leukodystrophy, your participation in our Clinical Issues Survey is so important. Please click below to take the survey.

Clinical Issues Survey

We thank you in advance for your participation.

Clinical Practice Guidelines

Work for the following CPGs have been completed. Access to these guidelines are provided below.

Krabbe Newborn Screening

Title and access to CPGs: Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Lead Author:  Dr. Jennifer M. Kwon

Family Co-Lead: Phil May  

Treatment

Guidelines: Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter’s Hope Leukodystrophy Care Network” completed and submitted by the Treatment Workgroup and published in the Biology of Blood and Marrow Transplantation Journal.

Lead Author: Dr. Joanne Kurtzberg, Duke Children’s Hospital

Family Co-Leads: Matt & Lauren Hammond  

 

Clinical Practice Guidelines Under Development

Work groups have been established for the following areas and CPGs are currently under development. Access to all guidelines will be available here as they are completed.

Neurology

Guidelines: Defining Leukodystrophy categories to establish a framework for recommendations, neurologic monitoring, symptom management and care coordination.

Lead Author: Dr. Florian Eichler, Massachusetts General Hospital, Harvard Medical School

Family Co-Lead:  Elisa Seeger  

Diagnosis

Guidelines: Early Signs and Symptoms of Leukodystrophies: A Case-based Guide.

Lead Author: Dr. Maura Ruzhnikov, Stanford University and Lucile Packard Children’s Hospital

Family Co-Lead: Bob Rauner  

Musculoskeletal

Guidelines: Maximize functional capabilities of affected children, pain & sleep management, management of hypertonia, bone health and medical equipment.

Lead Author: Dr. Sally Evans, Children’s National Hospital

Family Co-Leads: Phil & Amy May  

Respiratory

Guidelines: Pulmonary consultation referrals, prevent/reduce risk of pneumonia and mechanical ventilation.

Lead Author: Dr. Geovanny Perez, The George Washington University School of Medicine and Health Sciences

Family Co-Leads: Chad & Lisa Borodychuk