Mapping the PIK3CA-Related Overgrowth Spectrum Patient and Caregiver Journey Using a Patient-Centered Approach

December 2021 Vol 12, No 12
Dawn Aubel, EdD, MPH, APNc
Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA
Lara Rodríguez-Laguna, PhD
Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, La Paz University Hospital, Madrid, Spain
Kristen Davis, BS
CLOVES Syndrome Community, West Kennebunk, ME, USA
Mellenee Finger
K-T Support Group, Milford, OH, USA
Robin Vlamis, MPH, CHES
Solstice HealthCommunications, Far Hills, NJ, USA
Craig Johnson, DO
Interventional Radiology, Nemours Children’s Hospital, Orlando, FL, USA

Background: PIK3CA-related overgrowth spectrum (PROS) disorders are rare conditions that require care from an interdisciplinary team spanning multiple specialties, including hematology-oncology. These disorders are driven by somatic, gain-of-function mutations in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene that result in hyperactivation of the phosphatidylinositol 3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Research in these rare disorders is limited, and there is a lack of awareness and education among not only healthcare professionals (HCPs) but among patients, their caregivers, and their families.

Objective: To describe the PROS experience from the patients’ and caregivers’ points of view, from onset to diagnosis to treatment and support.

Methods: The PROS patient journey was developed using a literature review, an ethnography study, HCP research, and social listening. It was then validated with patients, caregivers, and patient advocates. Physician research included 94 PROS centers of excellence and other vascular anomaly centers throughout the United States and Europe. Ethnographic research included 24 patients, caregivers, and/or advocates; 223 patient records were reviewed. Key priority areas of need were identified, along with barriers to and potential enablers of quality care.

Results: Visual mapping of the PROS patient and family journey was developed to identify key personal health and system issues and opportunities for improvements throughout patients’ lifespans. Maps were also developed for 3 specific conditions: Klippel-Trénaunay syndrome (K-T); congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal anomalies (CLOVES) syndrome; and megalencephaly/capillary malformation syndrome (M-CM). Overall, most patients with PROS and their families struggle with a long path to diagnosis, access to genetic testing, and finding qualified specialists. Following diagnosis, patients and families are frequently challenged with major medical events, comorbidities, unpredictability, frequent hospitalization, impact on school and work, the need for multidisciplinary care, and financial pressures. Lack of effective pain management emerged as a substantial issue for many patients. Challenges and barriers to quality care shift throughout patients’ lifespans; transition from pediatric to adult care can be especially difficult. Patients with M-CM face additional challenges such as developmental delays and cognitive issues. Patients with visible overgrowth or physical differences often deal with unwanted attention. Depression and anxiety are common among patients with PROS, and the emotional health of patients and their family members is often not adequately addressed.

Conclusions: This patient journey in PROS was created in collaboration with patients, caregivers, and advocates as key partners. This novel methodology, which could be applied elsewhere, can more accurately identify areas of unmet need, barriers to care, education topics, and also assist HCPs to understand the patient and family perspective. Patients with PROS and associated disorders face a complex journey that goes beyond the treatment of their conditions, requiring a multidisciplinary effort involving a team of experts from a broad spectrum of specialties.

Funding Source: Novartis Pharmaceuticals Corporation.

Acknowledgments: Medical editorial assistance was provided by Rob M. Camp, PhD, of Healthcare Consultancy Group, LLC, and funded by Novartis Pharmaceuticals Corporation. Patient journey methodology, research, and development by Solstice HealthCommunications LLC.

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Last modified: August 10, 2023

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