Consensus Statement for Standard of Care in Spinal Muscular Atrophy

TLDR

Spinal muscular atrophy is a neurodegenerative disease requiring multidisciplinary care, yet advances in molecular understanding and technology have not translated into uniform clinical practice, leading to variable outcomes and underscoring the urgent need for a standardized care framework. The International Standard of Care Committee was established in 2005 to develop practice guidelines for spinal muscular atrophy patients, with the intent that the resulting document serves as a guideline rather than a rigid practice standard. Through conference calls, e‑mail, a Delphi survey, and two in‑person meetings, 12 core members and over 60 experts reached consensus on five care domains—diagnostic/interventions, pulmonary, gastrointestinal/nutrition, orthopedics/rehabilitation, and palliative care—and drafted a statement tailored to nonsitter, sitter, and walker functional levels. Consensus was achieved on diagnostic strategies, monitoring recommendations, and therapeutic interventions across the five care areas, while also identifying several medical practices that lack consensus and warrant further investigation.

Abstract

Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources and values have resulted in variable clinical outcomes that are likely to compromise valid measure of treatment effects during clinical trials. The International Standard of Care Committee for Spinal Muscular Atrophy was formed in 2005, with a goal of establishing practice guidelines for clinical care of these patients. The 12 core committee members worked with more than 60 spinal muscular atrophy experts in the field through conference calls, e-mail communications, a Delphi survey, and 2 in-person meetings to achieve consensus on 5 care areas: diagnostic/new interventions, pulmonary, gastrointestinal/nutrition, orthopedics/rehabilitation, and palliative care. Consensus was achieved on several topics related to common medical problems in spinal muscular atrophy, diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in each care area. A consensus statement was drafted to address the 5 care areas according to 3 functional levels of the patients: nonsitter, sitter, and walker. The committee also identified several medical practices lacking consensus and warranting further investigation. It is the authors' intention that this document be used as a guideline, not as a practice standard for their care. A practice standard for spinal muscular atrophy is urgently needed to help with the multidisciplinary care of these patients.