New York, NY – The APBD Research Foundation is excited to partner with the Association for Glycogen Storage Disease (AGSD) on the development of healthcare guidelines for APBD and related Type IV Glycogen Storage (GSD IV) diseases.
This Guidelines initiative is spearheaded by Dr. Priya Kishnani, Chief of the Division of Medical Genetics and Professor of Pediatrics and Molecular Genetics / Microbiology at Duke University and chair of the AGSD’s Scientific Advisory Board. The Guidelines are intended to serve as an educational resource for health professionals, resulting in more prompt and accurate diagnoses and optimized care for people impacted by APBD and related GSD IV diseases. Additionally, it will help identify gaps in scientific knowledge and offer recommendations for future research.
APBD is one of a few forms of GSD IV diseases, all of which are caused by autosomal recessive mutations in the glycogen branching enzyme (GBE1) gene. GSD IV diseases have a wide clinical spectrum; as such, they manifest differently among affected individuals.
In general, people with APBD develop symptoms in their 30s, 40s, 50s, and 60s. Neither they nor their clinicians knew to consider APBD when they presented with the hallmark symptoms, since they mimic other, more common, neurological diseases such as MS, neuropathy, and ALS. It is, unfortunately, more common for people to be misdiagnosed and undergo unnecessary and potentially harmful tests, procedures, and medications for upwards of 6.8 years on average before receiving an accurate diagnosis.
Dr. Kishnani shared, “We are looking forward to working together with all of our colleagues who have expertise in GSD IV and APBD to get clinical care guidelines published. Through these guidelines, we can better serve our patients not only in establishing a diagnosis, but also through navigating management.”
Both patient organizations have been working together to identify a national group of healthcare professionals specializing in various aspects of GSD IV diseases. These professionals will review the scientific literature and provide their expert opinions to develop consensus in the areas of evaluation, diagnosis, treatment, and management. They have expertise in medical genetics, neurology, hepatology, enzymology, pediatrics, physical therapy, dietetics, and urogynecology, among others. Patient representatives, including Art Glassman from the APBD Research Foundation, are also included in discussions to ensure the Guidelines factor in the patients’ experiences.”
Jeff Levenson, co-president of the APBD Research Foundation, shared, “The diagnosis of APBD, like most rare diseases, remains a challenge for patients, doctors, and healthcare systems. I’m confident that this educational resource, being developed with our patients’ experiences factored in, will reduce diagnostic delays and provide much-needed disease management guidelines while we work on treatments and cures.”
Iris Ferrecchia, president of the AGSD, added, “The AGSD is so grateful to the YT Chen Foundation that supports publishing Consensus guidelines for clinical treatment of the many forms of glycogen storage disease. In the case of rare diseases, such as glycogen storage disease type IV, physicians have limited resources to create treatment plans without the guidance of peer reviewed guidelines.”
The APBD/GSD IV Healthcare Guideline is expected to be published in the Molecular Genetics and Metabolism journal in fall 2022.