A prospective outcome study of patients with profound combined immunodeficiency (P-CID)
Abstract
This is a prospective outcome study of patients with profound combined immunodeficiency (P-CID) (study number DRKS00000497).
Combined immunodeficiencies (CID) are a heterogeneous group of inherited immune disorders with impaired T-cell development and (or) function manifesting through increased susceptibility to infections and (or) immune dysregulation. They can be delineated from severe CID (SCID) by their manifestation beyond the first year of life. Profound CID (P-CID) is a potentially life-threatening form of CID, in which stem cell transplant (SCT) is a relevant consideration at diagnosis.
The primary objective of the study is to provide natural history data on patients with P-CID, irrespective of whether they undergo hematopoietic stem cell transplant (HSCT) or not. The goals are to determine survival, the frequency of severe events, and quality of life (QOL) 5 years after study inclusion.
The secondary objective is to develop a risk model for P-CID patients. The model is developed from a set of clinical and laboratory parameters obtained at diagnosis, at study inclusion, and yearly thereafter.
The tertiary objectives of this study are to determine the effects of donor, recipient, and treatment factors on the outcome of HSCT. The goal is to determine the quality of engraftment and immunological reconstitution and to determine the effects of these parameters on clinical outcome.
The main hypothesis is that P-CID patients undergoing early HSCT have a better 5-year survival rate than patients who undergo late HSCT or are not transplanted.
This is a prospective multi-centre international cohort study (observational study).
Enrolled patients will be evaluated and treated according to local institutional protocols. They will receive comparable baseline and follow-up evaluations across all participating centres, irrespective of the therapeutic strategy at the individual site.
There will be at least 6 study visits (scheduled yearly) for all patients. Because of the variable history prior to study inclusion, a morbidity score is determined for each patient at study visit 1. For those patients undergoing HSCT, an additional 6 month post-HSCT visit will be scheduled. The study visits will document immunological parameters, severe events including major infections, and major manifestations of immune dysregulation, severe transplant-related events, and QOL.
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Supplementary Material
Supplementary Data: Investigator Statement (lpsn-2015-0002suppl.pdf)
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Published In
LymphoSign Journal
Volume 2 • Number 2 • June 2015
Pages: 91 - 106
History
Received: 16 January 2015
Accepted: 28 January 2015
Accepted manuscript online: 17 February 2015
Version of record online: 17 February 2015
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Carsten Speckmann MD, Annette Uhlmann PhD, Sam Doerken MSc, Martin Wolkewitz PhD, Annette Pohl, and Stephan Ehl MD. 2015. A prospective outcome study of patients with profound combined immunodeficiency (P-CID). LymphoSign Journal.
2(2): 91-106. https://doi.org/10.14785/lpsn-2015-0002
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