Inborn Errors Working Party (IEWP)
Multicentric retrospective study on JAKinib treatment of patients with IEI of the JAK/STAT pathway
We would like to invite you to participate in a retrospective study on JAKinib treatment of patients with genetically defined IEI of the JAK/STAT pathway (e.g. STAT1GOF, STATGOF, JAK1, SOCS1). Untransplanted and transplanted patients across all age ranges are included.
The key questions of our study are:
(1) Occurrence of JAKinib organ toxcicity according to age, choice of drug, (pediatric) dosing and genetic defect.
(2) Occurrence of infections/reactivation and evolution with/without continuation of therapy.
(3) Occurrence of minor, yet drug specific and compliance critical, adverse events.
(4) Impact of JAKinib treatment on disease symptoms
(5) Identification of suitable peritransplant vs. long-term treatment protocols
(6) Use, tolerance and benefit of immunomodulatory comedication
Data collection is carried out through a CRF, which will be sent out to centers interested in participation of our study. The data will be evaluated in spring 2022 and presented at next year’s IEWP and ESID meetings. Furthermore, we are planning a data based consensus discussion on the use of JAKinib in IEI among participating centers.
We would therefore ask you to take part in a retrospective data if you have any patients with
confirmed genetic diagnosis of an IEI of the JAK/STAT pathway (e.g. STAT1GOF, STATGOF, JAK1, SOCS1). The study is run under the auspices of the Inborn Error Working Party (IEWP) of the EBMT and ESID registry.
Contact for CRF information:
Thanks a lot for your help
C. Speckmann, MD B. Neven, MD, PhD P. Olbrich MD, PhD
Ped. Immunology/BMT Ped. Immunology/BMT Ped. infect. rheumatol.
Univ.Freiburg Med. Center Necker Children hospital Univ. Children Hospital, Sevilla