APBD and GSD IV Guideline

In 2023, Dr. Priya Kishnani, MD, and Dr. Rebecca Koch, PhD, RDN, LDN, in collaboration with the APBD Research Foundation and the Association for Glycogen Storage Disease (AGSD), led the development and publication of “Diagnosis and Management of Glycogen Storage Disease Type IV, Including Adult Polyglucosan Body Disease: A Clinical Practice Resource” in Molecular Genetics and Metabolism, a landmark clinical guideline offering expert consensus on the diagnosis and care of APBD. 

Sharing clinical practice guidelines with your doctor is very important - it helps ensure that your care is informed by the most up-to-date, expert-backed recommendations. It supports better communication, promotes shared decision-making, and helps you advocate for the most appropriate testing, treatment, and follow-up.

Clinical practice guidelines are especially important for rare diseases for several key reasons:

  1. Standardize Care Across Providers
    Rare diseases are often unfamiliar to most clinicians. Guidelines help standardize diagnosis, management, and follow-up, ensuring consistent care regardless of a provider’s experience or location.

  2. Improve Diagnostic Accuracy
    Many rare diseases are underdiagnosed or misdiagnosed due to their complexity and similarity to more common conditions. Guidelines help providers recognize red flags, appropriate tests, and referral pathways, leading to earlier and more accurate diagnoses.

  3. Bridge Knowledge Gaps
    In rare diseases, evidence is often limited. Guidelines consolidate the best available data—whether from expert consensus, case studies, or small trials—to inform care decisions and reduce variability.

  4. Empower Patients and Families
    Patients with rare diseases often become experts in their condition. Having established guidelines gives them and their families a framework for advocating for appropriate care and navigating complex health systems.

  5. Guide Multidisciplinary Management
    Many rare conditions require coordinated care across multiple specialties (e.g., neurology, genetics, cardiology). Guidelines outline which specialists to involve and when, improving coordination and outcomes.

  6. Support Research and Policy
    Guidelines can identify gaps in evidence and serve as a foundation for designing future clinical studies, registries, or health policy decisions related to access, reimbursement, and resource allocation.

  7. Improve Outcomes
    When providers follow rare disease-specific guidelines, patients are more likely to receive timely, evidence-informed interventions—potentially improving quality of life, reducing complications, and extending lifespan.

The development and objectives of this clinical practice guideline were first introduced at our 2022 APBD Scientific & Community Conference, where experts outlined the need for standardized care and the collaborative process that would guide its creation.

Watch the video below for a concise overview of some key highlights for the clinical practice guidelines:

 
 

What is APBD