The IMPACT survey in the UK: treatment patterns in osteogenesis imperfecta

Paul Arundel; Welzenis Taco van; Wekre Lena Lande; Ingunn Westerheim; Cathleen Raggio; Oliver Semler; Tracy Hart; Samantha Prince; Emma Geldman; Frank Rauch

doi:10.1530/endoabs.111.OC8.4

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Endocrine Abstracts (2025) 111 OC8.4 | DOI: 10.1530/endoabs.111.OC8.4

BSPED2025 Oral Communications Endocrine Oral Communications 3 (5 abstracts)

The IMPACT survey in the UK: treatment patterns in osteogenesis imperfecta

Paul Arundel ¹ , Taco van Welzenis ² , Lena Lande Wekre ³ , Ingunn Westerheim ² , Cathleen Raggio ⁴ , Oliver Semler ⁵ , Tracy Hart ⁶ , Samantha Prince ⁷ , Emma Geldman ⁷ & Frank Rauch ⁸

Author affiliations

¹Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom; ²Osteogenesis Imperfecta Federation Europe, Heffen, Belgium; ³TRS National Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Nessoden, Norway; ⁴Hospital for Special Surgery, New York, USA; ⁵University of Cologne, Cologne, Germany; ⁶Osteogenesis Imperfecta Foundation, Gaithersburg, USA; ⁷Wickenstones Ltd, Oxford, United Kingdom; ⁸McGill University, Montreal, Canada

Background and aims: The treatment landscape of osteogenesis imperfecta (OI)—a rare hereditary connective tissue disorder—is not fully understood. This study aimed to capture real-world insights on pharmacologic interventions in people with OI living in the United Kingdom.

Methods: The IMPACT Survey was developed by the OI Federation Europe, the OI Foundation and an international steering committee of experts to explore the clinical, humanistic and economic impact of OI. The survey was fielded online from July–September 2021 and open to individuals with OI, caregivers and other close relatives. This descriptive analysis presents findings from British adults with OI and caregiver-reported data on children aged ≤ 18 years.

Results: Data on treatment patterns were collected from 144 adults (mean age 46.9 years; 73.6% female) and 27 children by proxy (mean age 5.9 years; 33.3% female) with OI. Most respondents reported their OI as Type I (47.2% adults; 33.3% children) or rated OI severity as moderate (42.4% adults; 44.4% children), though distribution across types and severity was spread. Many individuals were taking, or had previously taken, vitamin D or calcium supplementation (adults 92.3% and 65.3%; children 96.3% and 44.4%, respectively). Current or prior bisphosphonate use was reported by 66.7% adults and 66.7% children. Of those currently taking bisphosphonates (38 [26.4%] adults; 18 [66.7%] children), most were receiving zoledronate (36.8% adults; 50.0% children). Some adults were receiving risedronate (21.1%), alendronate (18.4%), pamidronate (13.2%) or ibandronate (2.6%). Some children were receiving pamidronate (44.4%) or risedronate (5.6%). Current or prior use of other pharmacologic treatments included: muscle relaxants (15.9% adults; 14.8% children), parathyroid hormone (9.1% adults), oestrogen (7.0% adults), and antibodies (e.g., denosumab, romosozumab, setrusumab; 4.2% adults). Pain medication was regularly used by 61.8% of adults and 33.3% children, with 43.8% adults using it daily.

Conclusion: The IMPACT Survey provides unique patient-reported perspectives on the British OI treatment landscape highlighting use of a wide-range of pharmacologics. Data indicate prevalent prescription of bisphosphonates in children and adults and emphasise the importance and need of pain management in individuals of all ages.