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.
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
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Lead Author: Dr. Jennifer M. Kwon
Family Co-Lead: Phil May
Treatment
Lead Author: Dr. Joanne Kurtzberg, Duke Children’s Hospital
Family Co-Leads: Matt & Lauren Hammond
Neurology
Guidelines: Practical Approaches and Knowledge Gaps in the Care of Children with Leukodystrophies
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
Clinical Practice Guidelines Under Development
Workgroups 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.
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
Cerebrotendinous xanthomatosis (CTX)
Guidelines: A Systematic Evidence Review for Cerebrotendinous Xanthomatosis: Phenotypic Spectrum of Disease and Response to Therapy
Lead Authors: Shailenda Patel and Austin Larson
Guidelines: Clinical Management of Cerebrotendinous Xanthomatosis
Lead Authors: Florian Eichler and Brian Wishart