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.

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