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
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
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
Treatment
Guidelines: Role of hematopoietic stem cell transplantation in the treatment of Leukodystrophy patients, newer emerging therapies that have potential to treat Leukodystrophy patients and designate the optimal supportive care measures needed to optimize the quality of life of Leukodystrophy patients.
Lead Author: Dr. Joanne Kurtzberg, Duke Children’s Hospital
Family Co-Leads: Matt & Lauren Hammond
Diagnosis
Guidelines: Newborn screening applications, clinical utility of next generation sequencing, practitioner education in diagnosis, MRI and clinical phenotype guided diagnosis and family counseling after a diagnosis.
Lead Author: Dr. Adeline Vanderver, The Children’s Hospital of Philadelphia
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. Richard Kravitz, Duke Children’s Hospital
Family Co-Leads: Chad & Lisa Borodychuk
