Phelan-McDermid syndrome (PMS) is a chromosomal disorder caused by the loss of the end of chromosome 22, that is manifested as a neurodevelopmental disorder. Providing an adapted version of a guideline was seen as essential, as currently, there are no such booklets based on an international guideline for PMS patients, families and caregivers. The European Reference Networks (ERN) Guidelines programme results from a call for proposals funded (DG SANTE/2018/B3/030) for the development of Clinical Practice Guidelines (CPG) and Clinical Decision Tools in the area of rare diseases. Based on this European consortium, the purpose of this study is to describe how two Spanish HTA agencies, OSTEBA-BIOEF (Basque Office for Health Technology Assessment) and AETSA (Andalusian Health Quality Assessment Department) methodologically support the ERN-ITHACA (Rare malformation syndromes and rare intellectual and neurodevelopmental disorders) in the development of a comprehensive patient booklet based on a CPG to be used as an adjunct in the management of PMS syndrome that will be published in 2023.

A preliminary booklet was created by HTA agencies using the new European guideline for PMS and a Dutch guideline. The booklet structure is an adaptation based on a European Commission template with the guidance of the methodological Handbook#11.

Through a comprehensive adaptation, following the PMS guideline and the Handbook #11, a booklet is developed for the PMS patients. Composed by 28 pages in DIN A5 format were introduction, diagnosis, treatment, pregnancy, do’s, supportive care, social networks (including a QR code) and a glossary are included. The selection of a symbol, colors at a chromatic level, a typography and graphical elements as illustrations were created as a corporate identity. Clinical experts and patient representatives that have participated in the creation of the guideline will assess and validate the booklet.

Collaboration between agencies, clinicians and patients is critical to obtain evidence-based products adapted to the needs of patients and people involved in their care.