Determining value in the treatment of activated PI3Kδ syndrome in Spain: a multicriteria decision analysis from the perspective of key stakeholders


  • Alicia Gil Omakase Consulting S.L., Barcelona - Spain
  • María Reyes Abad Pharmacy Department, H.U. Miguel Servet, Zaragoza - Spain
  • Carmen Alerany Pharmacy Department, H.U. Vall d’ Hebron, Barcelona - Spain
  • Laia Alsina Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, H. Sant Joan de Déu. Institut de Recerca Sant Joan de Déu. Universitat de Barcelona, Barcelona - Spain
  • Eduardo López Granados Immunology Department, H.U. La Paz, Madrid - Spain
  • Olaf Neth Paediatric Infectious Diseases, Rheumatology and Immunology Unit H.U. Virgen del Rocío, Seville - Spain
  • José Luis Poveda Pharmacy Department H.U. i Politècnic La Fe, Valencia - Spain
  • Jacques G. Rivière Paediatric Infectious Diseases and Immunodeficiencies Unit, H.U. Vall d’Hebron University Hospital, Barcelona - Spain, Infection and Immunity in Pediatric Patients Research Group, Vall d’Hebron Institut de Recerca (VHIR), H.U. Vall d’Hebron, Barcelona - Spain and Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Medical University of South Carolina, Barcelona - Spain
  • Carlos Rodríguez-Gallego Department of Immunology, H.U. of Gran Canaria Dr. Negrin, Las Palmas de Gran Canaria, Gran Canaria - Spain
  • Joanne B. Tutein Nolthenius Pharming Technologies B.V., Leiden - The Netherlands
  • Raquel Figueiredo Pharming Technologies B.V., Leiden - The Netherlands
  • Silvia Subías Labazuy Omakase Consulting S.L., Barcelona - Spain



Activated phosphoinositide 3-kinase (PI3K)δ syndrome (APDS), Decision-making, Multicriteria decision analysis (MCDA), Rare disease


Introduction: Activated phosphoinositide 3-kinase (PI3K)δ syndrome (APDS) is an ultra-rare inborn error of immunity (IEI) combining immunodeficiency and immune dysregulation. This study determined what represents value in APDS in Spain from a multidisciplinary perspective applying multicriteria decision analysis (MCDA) methodology.

Methods: A multidisciplinary committee of nine experts scored the evidence matrix. A specific framework for orphan drug evaluation in Spain and the weights assigned by a panel of 98 evaluators and decision-makers was used. Re-evaluation of scores was performed.

Results: APDS is considered a very severe disease with important unmet needs, including misdiagnosis and diagnostic delay. Current management is limited to treatment of symptoms with off-label use of therapies supported by limited evidence. Therapeutic benefit is partial, resulting in limited disease control. Haematopoietic stem cell transplantation (HSCT), the only potential curative alternative, is restricted to a reduced patient population and without evidence of long-term efficacy or safety. All options present a limited safety profile. Data on patients’ quality of life are lacking. APDS is associated with high pharmacological, medical and indirect costs.

Conclusions: APDS is considered a severe disease, with limited understanding by key stakeholders of how treatment success is assessed in clinical practice, the serious impact that has on patients and the associated high economic burden. This study brings to light how MCDA methodology could represent a useful tool to complement current clinical and decision-making methods used by APDS experts and evaluators.


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How to Cite

Gil, A., Reyes Abad, M., Alerany, C., Alsina, L., López Granados, E., Neth, O., Poveda, J. L., Rivière, J. G., Rodríguez-Gallego, C., Tutein Nolthenius, J. B., Figueiredo , R., & Subías Labazuy , S. (2024). Determining value in the treatment of activated PI3Kδ syndrome in Spain: a multicriteria decision analysis from the perspective of key stakeholders. Global and Regional Health Technology Assessment, 11(1), 124–130.



Original Research Articles


Received 2024-02-07
Accepted 2024-04-24
Published 2024-05-22


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