PATIENT SUPPORT AND REAL-WORLD EVIDENCE GENERATION IN RARE DISEASE: A CASE STUDY IN HYPOPHOSPHATASIA
Author(s)
Genevieve Lyons, MSc1, Jon Vlasnik, PharmD, BCPS, HECON-C, RPh, PharmD1, William Mowrey, PhD1, Aline Rangel-Pozzo, MS, PhD2, Abigail Jastrab, PharmD3, Anastasia Abramson, PharmD3, Briana Sullivan, BS1, Ashwin Anand, MPH4, Mike Sicilia, BS4, Anuja Panthari, MPH4, Christina Peroutka, MD2;
1Alexion, AstraZeneca Rare Disease, Boston, MA, USA, 2University of Virginia Health, Charlottesville, VA, USA, 3PANTHERx Rare, Pittsburgh, PA, USA, 4Forian, Inc., Newtown, PA, USA
1Alexion, AstraZeneca Rare Disease, Boston, MA, USA, 2University of Virginia Health, Charlottesville, VA, USA, 3PANTHERx Rare, Pittsburgh, PA, USA, 4Forian, Inc., Newtown, PA, USA
OBJECTIVES: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient alkaline phosphatase (ALP) activity leading to chronic pain and loss of physical function. Common challenges in rare diseases include limited patient-relevant real-world evidence (RWE), gaps in patient and healthcare professional (HCP) education, and ensuring access to medicine. Potential barriers to access include lengthy and complex prior authorization processes and requirements for genetic testing, which may report variants of uncertain significance (VUS). We describe a novel approach in which a patient support program for asfotase alfa, the only FDA-approved therapy for perinatal/infantile- and juvenile-onset HPP, may help to address evidence gaps and potentially improve access to care for patients with HPP.
METHODS: Patient support programs can offer personalized support to patients including education, community resources, and assistance with health insurance requirements. PANTHERx Rare, a rare disease pharmacy dispensing most US asfotase alfa prescriptions, partners with Alexion's OneSourceTM patient support program to coordinate prior authorizations and streamline appropriate patient access to therapy. During intake, PANTHERx Rare’s proprietary patient care management platform, SWFT™, captures genetic testing results, laboratory data, and symptom information. With patient consent, deidentified data are incorporated into a database of patients initiating treatment. Data are collected prior to asfotase alfa initiation, with no follow-up.
RESULTS: Over 1,000 adult patients with HPP in the US have contributed data from 2015-2025, including genetic tests (N=740), symptoms (N=479), and ALP (N=1,121), pyridoxal-5'-phosphate (PLP; N=1,019), and phosphoethanolamine (PEA; N=195) measurements. This large baseline dataset-not typically available for rare diseases-can enhance understanding of HPP and help reduce treatment barriers.
CONCLUSIONS: Collecting data from consenting patients through a manufacturer‑sponsored support program, combined with the centralized visibility provided by an exclusive rare‑disease pharmacy, creates a scalable mechanism for generating RWE that is otherwise difficult to obtain while also supporting timely and appropriate patient access to therapy.
METHODS: Patient support programs can offer personalized support to patients including education, community resources, and assistance with health insurance requirements. PANTHERx Rare, a rare disease pharmacy dispensing most US asfotase alfa prescriptions, partners with Alexion's OneSourceTM patient support program to coordinate prior authorizations and streamline appropriate patient access to therapy. During intake, PANTHERx Rare’s proprietary patient care management platform, SWFT™, captures genetic testing results, laboratory data, and symptom information. With patient consent, deidentified data are incorporated into a database of patients initiating treatment. Data are collected prior to asfotase alfa initiation, with no follow-up.
RESULTS: Over 1,000 adult patients with HPP in the US have contributed data from 2015-2025, including genetic tests (N=740), symptoms (N=479), and ALP (N=1,121), pyridoxal-5'-phosphate (PLP; N=1,019), and phosphoethanolamine (PEA; N=195) measurements. This large baseline dataset-not typically available for rare diseases-can enhance understanding of HPP and help reduce treatment barriers.
CONCLUSIONS: Collecting data from consenting patients through a manufacturer‑sponsored support program, combined with the centralized visibility provided by an exclusive rare‑disease pharmacy, creates a scalable mechanism for generating RWE that is otherwise difficult to obtain while also supporting timely and appropriate patient access to therapy.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
SA58
Topic
Study Approaches
Disease
SDC: Rare & Orphan Diseases