Primary Immune Deficiency Treatment Consortium (PIDTC) update

Abstract

The Primary Immune Deficiency Treatment Consortium (PIDTC) is a collaboration of 41 North American centers studying therapy for rare primary immune deficiency diseases (PID) including Severe Combined Immune Deficiency (SCID), Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). An additional 3 European centers have partnered with the PIDTC to study CGD. Natural history protocols of the PIDTC analyze outcomes of treatment for rare PID in multicenter longitudinal retrospective, prospective and cross-sectional studies. Since 2009, participating centers have enrolled over 800 subjects on PIDTC protocols for SCID, and enrollment on the studies in WAS and CGD is underway. Four pilot projects have been funded and 12 junior investigators have received fellowship awards. Important publications of the consortium describe outcomes of hematopoietic cell transplantation (HCT) for SCID during 2000–2009, diagnostic criteria for SCID, and the pilot project of newborn screening (NBS) for SCID in the Navajo Nation. The PIDTC Annual Scientific Workshops provide an opportunity to strengthen collaborations with junior investigators, patient advocacy groups and international colleagues. Funded by the NIAID and ORDR, NCATS, the PIDTC has recently received renewal for another 5 years. Here, we review accomplishments of the group, projects underway, highlights of recent workshops and challenges for the future.

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening

“…As SCID NBS has become widespread, and in conjunction with establishment of the Primary Immune Deficiency Consortium (PIDTC) funded by the National Institute of Allergy and Infectious Diseases and Office of Rare Diseases, National Center for Advancing Translational Sciences, NIH, new definitions for SCID have evolved for healthy-appearing affected infants [3, 4, 13]. In contrast to classical descriptions of SCID with infections [1], the new criteria are based upon laboratory parameters.…”

The Primary Immune Deficiency Treatment Consortium: how can it improve definitive therapy for PID?

“…The Primary Immune Deficiency Treatment Consortium (PIDTC) is a NIH-sponsored rare disease consortium of 44 centers in North America and 3 in Europe, focused on the diagnosis, management and definitive treatment of heritable disorders affecting the immune system (1,2). Supported since 2009 by the National Institute of Allergy and Infectious Diseases (NIAID) and the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Research (NCATS), NIH, the PIDTC is conducting multicenter prospective and retrospective observational and cross-sectional studies of Severe Combined Immunodeficiency (SCID), Chronic Granulomatous Disease (CGD) and Wiskott Aldrich Syndrome (WAS) (2).…”

“…Supported since 2009 by the National Institute of Allergy and Infectious Diseases (NIAID) and the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Research (NCATS), NIH, the PIDTC is conducting multicenter prospective and retrospective observational and cross-sectional studies of Severe Combined Immunodeficiency (SCID), Chronic Granulomatous Disease (CGD) and Wiskott Aldrich Syndrome (WAS) (2). Primary immunodeficiency diseases (PID) are sufficiently rare that the number of patients cared for at an individual center is limited, and historically this led to center-specific, generic approaches to definitive treatments such as hematopoietic cell transplantation (HCT).…”

“…A detailed summary of the PIDTC protocols can be found in the references (1,2). PIDTC Protocol 6901 is a prospective observational study of SCID in which newly diagnosed patients are enrolled prior to treatment.…”

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT

“…Key aims of the meeting were to assess current knowledge regarding late effects for patients diagnosed and treated for SCID and to address the lack of standardized guidelines for proactive monitoring and screening after HCT. Pediatric Blood and Marrow Transplant Consortium leaders engaged key experts from the Primary Immune Deficiency Treatment Consortium (PIDTC), a collaboration of 44 centers in North America [1], and the European Society for Immune Deficiencies/European Society for Blood and Marrow Transplantation Inborn Errors Working Party to address this need. In our recent review of the published experience for survival and late effects seen after HCT for SCID [2], we documented the need for long-term data collection and analysis from these patients to improve outcomes.…”