The Guideline initiative was spearheaded by Priya Kishnani, MD (Chief of the Division of Medical Genetics, Professor of Pediatrics, and Molecular Genetics and Microbiology at Duke University) and Rebecca Koch, PhD, RDN, LDN (Clinical and Translational Research Program Lead at Duke University).
The Guideline serves as a tool for health professionals and individuals impacted by APBD and related GSD IV diseases. It aims to facilitate more prompt and accurate diagnoses and optimized care. Additionally, it identifies gaps in scientific knowledge and offers recommendations for future research.
GSD IV is caused by autosomal recessive variants in the glycogen branching enzyme (GBE1) gene. It has a wide clinical spectrum; as such, it manifests differently among affected individuals. GSD IV is associated with a range of hepatic, neurologic, muscular, and/or cardiac manifestations that may present in utero, infancy, childhood, or adolescence, as well as in middle to late adulthood (Adult Polyglucosan Body Disease).
Individuals with APBD develop symptoms in their 30s, 40s, 50s, and 60s. The diagnosis of APBD, like most rare and ultra-rare diseases, remains a challenge for patients, doctors, and healthcare systems. Patients typically receive the confirmatory APBD diagnosis an average of 6.8 years after initial symptoms, several misdiagnoses, and unnecessary and potentially harmful tests, procedures, and treatments.
Dr. Kishnani shared, “Nineteen health experts from across the United States – representing twelve fields, including medical genetics, neurology, cardiology, hepatology, diagnostics, physical therapy, dietetics, and urogynecology, among others – formed the working group that met over the course of two years and developed consensus in the areas of evaluation, diagnosis, and management.”
“It has been wonderful to bring the working group together to share clinical expertise and ‘lived’ experiences. This clinical practice resource will serve many affected individuals and help patients get a faster diagnosis and better navigate their healthcare,” added Dr. Koch.
Kim Burney, president of the Association for Glycogen Storage Disease, added, “We are so grateful to the Chen Foundation and the Y.T. and Alice Chen Pediatric Genetics and Genomics Research Center for supporting the publication of this Guideline. We are excited to partner with the APBD Research Foundation on this guideline and believe it will lead to quicker diagnoses and guidance for patients and families.”
Natacha T. Pires, executive director of the APBD Research Foundation, shared, “The collaborations among the patients, the AGSD, the APBD Research Foundation, and the health experts is inspiring. Now, the work of disseminating the Guideline begins. All of us – patients, health professionals, researchers, and advocacy organizations – have a role in getting the word out.”
About APBD Research Foundation
Founded in 2005, the APBD Research Foundation is the only US-based nonprofit supporting people with APBD. As the trusted APBD hub for medical providers, researchers, healthcare industry, and APBD families, the Foundation’s mission is four-fold: improve the diagnosis and treatment of APBD; support affected individuals and families; increase awareness of APBD among health professionals and the public; and facilitate the translation of research into treatments and a cure for APBD. To learn more about APBD and the APBD Research Foundation, visit apbdrf.org.
About Association for Glycogen Storage Disease
Founded in 1979, the Association for Glycogen Storage Disease is a parent and patient organization with a Scientific Advisory Board that works to disseminate information and research to families quickly while providing support for families. AGSD has supported the development of multiple clinical practice guidelines over the years as well as other focused research papers. To learn more about the various GSDs and the Association for Glycogen Storage Disease, visit agsdus.org.