{
  "abstract": "CHAPLE syndrome (CD55 deficiency) is an ultra-rare primary immunodeficiency, with fewer than 100 cases reported globally. 1 A paediatric patient at a tertiary paediatric centre in the United Kingdom was granted compassionate access to pozelimab, a novel monoclonal antibody imported from the United States. Delivering this treatment required close multidisciplinary collaboration between the consultant immunologist, specialist nurse, and pharmacy teams, including clinical, quality assurance, and procurement.The pharmacy team ensured the clinical appropriateness of the treatment through independent evaluation of the patient’s condition and the available evidence. In the absence of established protocols or reference sources, they implemented clinical governance measures to support safe prescribing and administration, including documentation, dosing guidance, and risk mitigation strategies. Pharmacists played an active role in patient and family engagement, providing education and counselling to support informed decision-making. In parallel, the pharmacy team also managed regulatory liaison, importation, and arrangements for continued supply.An online meeting was held with the patient and parent to explore their perspectives on the compassionate use process. The patient, who had previously received immunosuppressants including biologics, expressed relief at finally having a confirmed diagnosis and a treatment specifically targeting her condition. Although initially concerned about side effects, she understood the associated risks from prior experience and felt reassured. She preferred receiving verbal information from the consultant, nurse, and pharmacist but felt written material would be helpful for future reference. She was surprised that the medication came in a vial rather than a prefilled pen or syringe but ultimately preferred the vial and appreciated the team’s efforts to explore pain-minimising techniques that worked for her.The parent also expressed relief at the diagnosis, but noted difficulty accessing peer support or patient experiences due to the rarity of the condition. Despite receiving written materials and links to the manufacturer’s website, she felt reading about others’ experiences would have offered greater reassurance when deciding to start treatment. She highly praised the multidisciplinary approach and the effectiveness of communication across the team. The pharmacist’s presence during the first administration was particularly valued, though she suggested earlier pharmacy involvement—ideally when the drug was first proposed in clinic—would have been beneficial. She also identified a need for more lifestyle and dietary guidance to support ongoing care. Overall, both parent and patient felt supported in their decision to begin treatment and expressed high satisfaction with the pharmacy team’s contribution and the collaborative approach.Conclusion Delivering compassionate use treatment for ultra-rare diseases requires coordinated, multidisciplinary care. The input of the consultant, nurse, and pharmacy teams was central to supporting the family and ensuring treatment was initiated safely. This case highlights the importance of early pharmacy involvement, structured governance processes, and person-centred communication. Patient and parent feedback reinforced the value of accessible information and the reassurance provided by collaborative, transparent care in the context of rare disease management.Reference Litcher-Kelly L, Ozen A, Ollis S, et al. The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition. Orphanet Journal of Rare Diseases 2025;20:68.",
  "authors": [
    {
      "affiliations": [
        "Pharmacy Dept, Great Ormond Street Hospital, UK",
        "Immunology Dept, Great Ormond Street Hospital, UK"
      ],
      "name": "Iek Leng Cheng"
    },
    {
      "affiliations": [
        "Immunology Dept, Great Ormond Street Hospital, UK"
      ],
      "name": "Helana Simmonds"
    },
    {
      "affiliations": [
        "Pharmacy Dept, Great Ormond Street Hospital, UK"
      ],
      "name": "Jyotika Joshi"
    },
    {
      "affiliations": [
        "Immunology Dept, Great Ormond Street Hospital, UK"
      ],
      "name": "Matthew Buckland"
    }
  ],
  "title": "P15 When N <100: compassionate use of a novel therapy in CHAPLE syndrome",
  "uid": "7b7624ae-e626-5b5c-bee1-b574da6033e8"
}