An ESID Registry level 3 project.
Currently recruiting!
If you treat a SOCS1 patient at your center and want to include her/him into the registry please send an email to cci.socs1@list.uniklinik-freiburg.de .
We then will provide individual information to you regarding the next steps.
Project description
SOCS1 haploinsufficiency is a newly recognized cause of early-onset autoimmunity in which the development of autoimmunity is induced by cytokine hypersensitivity in immune cells. Up to now three studies describing a limited number of patients (16 patients within eight families) were published in which the clinical presentation remains rather heterogeneous (1-3). There is thus a need for further characterization of the clinical spectrum of SOCS1 haploinsufficiency to understand its pathogenesis, its penetrance, to identify clinical and immunological (laboratory) biomarkers and to monitor the response to therapy. The SOCS1 patient registry has been created to better define the natural history of these rare diseases, to document treatments used in this disorder and to identify predictors for outcome.
Patients are initially registered with a retrospective case report form and are then documented prospectively every year. The project has been designed for an initial period of 3 years with the goal to recruit about100 patients.
Project coordination
The SOCS1 registry project has been initiated by the lead investigators Stephan Ehl (Freiburg) and Jerome Hadjadj (Paris) and endorsed by the ESID Board as well as the ESID registry steering committee. The project is conducted under the guidance of the ESID registry team and supported by the Clinical Research Unit (“CRU”) of the CCI Freiburg, all of them authorized to act on behalf of ESID. Further information and documents are provided on the SOCS1 project homepage (= SOCS1 Registry | Universitätsklinikum Freiburg (uniklinik-freiburg.de) )
Project funding
Current funding of the project (project management including ethics, data management and quality controls) is provided by core funding provided by the lead investigators. Reimbursement of documentation activities for the participating centres (case fees) as well as financing further development and maintenance of an ESID registry based online documentation section for SOCS1 patients await acquisition of additional funding by academic grants and/or industry partners.
Data access and publication
Data access and publication rules for this and all other ESID registry projects have been specified and approved by the ESID board. The ESID documenting centers remain in full possession of the registry data. Registry data will not be published without their consent. Any ESID investigator is invited to hand in scientific proposals to the SOCS1 registry project manager. Approval of projects will involve review by the ESID registry steering committee with participation of the SOCS1 registry lead investigators,
How can I join the SOCS1 registry project?
Participating centers have to be ESID registry documenting centers. If your center is not yet an ESID registry documenting center, please follow the instructions how to join.
To participate in the SOCS1 registry project please contact: cci.socs1@list.uniklinik-freiburg.de .
How can I include a patient into the SOCS1 registry?
For a quick start all documents relevant for the first steps of patient inclusion can be found here:
First steps patient inclusion:
Registration FAX:
Template Subject ID LOG:
Please assure:
- that the patient has signed an up-to-date (GDPR compliant) consent for the ESID registry – see patient consent section.
- that the patient has been registered in the ESID registry and ESID level 1 dataset has been completed ( new level 1 registration).
Contacts:
ESID registry operation: esid-registry@uniklinik-freiburg.de , Tel. +49 761 270 36961
SOCS1 Team, Freiburg, Germany: cci.socs1@list.uniklinik-freiburg.de .
SOCS1 project manager: A. Uhlmann – annette.uhlmann@uniklinik-freiburg.de, Tel. +49 761 270 77771
SOCS1 lead investigators:
Stephan Ehl, Freiburg, Germany – stephan.ehl@uniklinik-freiburg.de
Jerome Hadjadj, Paris, France – jerome.hadjadj@institutimagine.org
References:
- Lee PY, Platt CD, Weeks S, Grace RF, Maher G, Gauthier K, et al. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020 Aug 25.
- Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020 Jul;583(7814):90-5.
- Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F. Early-onset autoimmunity associated with SOCS1 haploinsufficiency. Nat Commun. 2020 Oct 21;11(1):5341.
