Dear ERKNet colleagues and friends,
Jan Halbritter from Berlin Charité and Emilie Cornec Le Gall from Brest University are kindly asking you for your help regarding the identification of patients with pathogenic variants in OFD1. OFD1 has been identified as the causative gene in oro-facial-digital syndrome (OFD) more than 20 years ago. OFD1 is an X-linked disease that is usually embryonic lethal in males affected. However, females may present with syndromic or non-syndromic disease partially mimicking PKD in adulthood. On the basis of a bicentric cohort (n>20), we initiated clinical and functional evaluation. For further clinical comparison, we would love to include more cases suffering from this rare disorder. According to our preliminary data, we hypothesize that OFD1 is largely underrecognized in adult females presenting with atypical cystic kidney disease, notably when syndromic presentation is missing.
This survey is intended for all physicians who manage PKD patients to help catching the full spectrum of OFD1-associated disease. Contribution of fully characterized patients will result in a co-authorship (> 2 patients) or banner authorship (1-2 patients).
We kindly request your assistance by letting us know, if you have identified patients with this disorder at your institution. Please provide your contact details at https://de.surveymonkey.com/r/OFD1patients (please copy/paste, if the link is not working). The team from Berlin Charité will get in touch with you directly.
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Jan Halbritter, Emilie Cornec-Le Gall and the teams at Berlin Charité and Brest University
***This study is supported by the ERKNet WG on Metabolic Disorders***