We have recently received funding from the European Society for Pediatric Endocrinology (ESPE) Collaborative Research Unit to conduct a study on long-term outcomes in P450 oxidoreductase deficiency – the PORDlong study, with Christa Flück, Jan Idkowiak and Rodolfo Rey.
The study is now ready for recruitment, with a dedicated REDCap database (see brief Study overview below). We are reaching out to participating clinicians and we would be very happy if you have any PORD patients who might be interested in participating or if you could share this study with clinicians who might be interested in your network.
——————————–Study Overview———————————————-
The PORDlong study investigates the long-term clinical profile of individuals with biallelic POR variants, particularly beyond childhood and adolescence. Given POR’s role in multiple metabolic pathways, we anticipate uncovering previously unreported clinical features and comorbidities—some potentially unrelated to classic PORD manifestations such as skeletal malformations (e.g., Antley-Bixler Syndrome).
How You Can Participate:
We invite clinicians to contribute data:
- Direct entry into our custom REDCap registry.
Patients aged 16 years or older will also be asked to complete a quality of life (QoL) questionnaire.
Optionally, biomaterial samples (blood, 24h urine, or skin biopsy) may be provided for pathomechanistic and metabolomic analyses.
What’s Needed:
- Access to data from postpubertal PORD patients (age >15/16)
- Patient consent and local ethical approval (e.g., SDMregistries approval)
- Optional: Biomaterial samples
!!! Important: Ethical approval and patient consent must be obtained by the collaborating clinicians in accordance with local regulations (IRB). To support this process, we’ve attached the study description (for clinicians) and the patient information sheet.
We are very much looking forward to collaborating with you on this project.
Best wishes,
Chrysanthi Kouri