A prospective outcome study on patients with profound combined immunodeficiency

Withdrawn

Conditions: immune deficiency
immune disorder
10021460

Registration Number: NL-OMON45905

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Withdrawn

Sex: Not specified

Target Recruitment: 4

Inclusion Criteria

Clinical and immunological criteria determine inclusion irrespective of the
genetic diagnosis.
T cell criteria (2 out of 4)
o Reduced T cell counts (CD4 : <700, if <2y ; <500, if 2-4y ; <300,
if >4y ; CD8 : <350, if <2y ; <250, if 2-4y ; <150, if >4y)
o Reduced thymic function (CD45RA+CD62L+ or CD45RA+CD31+
of CD4+ <30% <2y, <25% 2-6y, <20% >6y)
o Impaired T cell proliferation (PHA response <30% of lower limit of
normal)
o Elevated fraction of */* T cells (>15% of total CD3+ T cells)
AND Clinical criteria
* At least one major infection criteria (viral, bacterial, opportunistic)
OR
* At least one major immune dysregulation criteria (granulomas,
lymphoproliferative disease, unexplained interstitial lung disease,
inflammatory bowel disease, autoantibody mediated disease,
vasculitis) OR
* At least one malignancy criteria (lymphoid malignancies and
virally induced malignancies)
AND Age ><= 1yr and <<= 16yr at study inclusion

Exclusion Criteria

No written consent available No written informed consent of
patient or parents in case of minors available or no assent of
minor if applicable;* Patients with a clinical diagnosis of SCID or Omenn syndrome
within the first year of life
* P-CID Patients for whom decision for HSCT is taken at age <1yr
* Patients with Wiskott-Aldrich syndrome and CD40 Ligand
Deficiency, because disease-specific prognosis and treatment
data are available
* Patients undergoing gene therapy or ADA enzyme replacement
will be followed using the same parameters, but will not be
included in the analysis

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The primary endpoint is overall survival determined after year 5. The<br /><br>event analysed is death from any cause. The time to this event is the<br /><br>time from the first major infection or major manifestation of immune<br /><br>dysregulation (documented retrospectively at the time of study entry) to<br /><br>death.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The secondary endpoint is the time point of HSCT. The time to this<br /><br>event is the time from the first major infection or major manifestation of<br /><br>immune dysregulation to HSCT.<br /><br>Tertiary endpoint is the frequency of major infections or major<br /><br>manifestations of immune dysregulation during the observation period.<br /><br>These endpoints will be used as prognostic factors in combination with a<br /><br>set of potentially predictive biomarkers in survival models in order to<br /><br>establish a risk model for P-CID patients.<br /><br>In addition, within this study, all patients undergoing HSCT will be<br /><br>analyzed with a second set of endpoints to evaluate of the outcome of<br /><br>SCT.<br /><br>Primary endpoint is overall survival after 6 months and 1 year of follow up<br /><br>Secondary endpoints are engraftment, immune reconstitution and<br /><br>clinical outcome assessed at 6 and 12 months after HSCT.</p><br>