NCT01186913

A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children With SCID Disorders (RDCRN PIDTC-6901)

ENROLLING BY INVITATION Last updated 9 November 2020

What this trial tests

trial in Severe Combined Immunodeficiency (SCID) in 690 participants. Enrolling by invitation.

Timeline

2 September 2010

Primary endpoint
1 September 2028

1 September 2028

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	ENROLLING BY INVITATION
Study type	OBSERVATIONAL
Enrollment	690
Start date	2 September 2010
Primary completion	1 September 2028
Estimated completion	1 September 2028
Sites	44 locations across United States, Canada

Conditions studied

• Severe Combined Immunodeficiency (SCID) — all drugs for Severe Combined Immunodeficiency (SCID) →
• Leaky SCID — all drugs for Leaky SCID →
• Omenn Syndrome — all drugs for Omenn Syndrome →
• Reticular Dysgenesis — all drugs for Reticular Dysgenesis →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Eligibility, any sex, with Severe Combined Immunodeficiency (SCID) or Leaky SCID. Patients with the condition only — healthy volunteers not accepted.

What's being measured

Primary outcomes are the specific endpoints the trial is designed to prove or disprove.

• Overall Survival (OS) at Month 6 Post HCT
  Time frame: Month 6 Post HCT
  Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 6 months.
• Overall Survival (OS) at Year 2 Post HCT
  Time frame: Year 2 Post HCT
  Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 2 years.
• Overall Survival (OS) at Year 5 Post HCT
  Time frame: Year 5 Post HCT
  Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 5 years.
• Overall Survival (OS) at Year 8 Post HCT
  Time frame: Year 8 Post HCT
  Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 8 years.

Sponsor's own description

This study is a prospective evaluation of children with Severe Combined Immune Deficiency (SCID) who are treated under a variety of protocols used by participating institutions. In order to determine the patient, recipient and transplant-related variables that are most important in determining outcome, study investigators will uniformly collect pre-, post- and peri-transplant (or other treatment) information on all children enrolled into this study.

Children will be divided into three strata:

* Stratum A: Typical SCID with virtual absence of autologous T cells and poor T cell function
* Stratum B: Atypical SCID (leaky SCID, Omenn syndrome and reticular dysgenesis with limited T cell diversity or number and reduced function), and
* Stratum C: ADA deficient SCID and XSCID patients receiving alternative therapy including PEG-ADA ERT or gene therapy.

Each Group/Cohort Stratum will be analyzed separately.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.
   Heimall J, Logan BR, Cowan MJ, Notarangelo LD, et al · · 2017 · cited 188× · PMID 29021228 · DOI 10.1182/blood-2017-05-781849
2. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
   Dvorak CC, Haddad E, Heimall J, Dunn E, et al · · 2023 · cited 85× · PMID 36456361 · DOI 10.1016/j.jaci.2022.10.022
3. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.
   Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, et al · · 2013 · cited 79× · PMID 23818196 · DOI 10.1007/s10875-013-9917-y
4. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
   Thakar MS, Logan BR, Puck JM, Dunn EA, et al · · 2023 · cited 76× · PMID 37352885 · DOI 10.1016/s0140-6736(23)00731-6
5. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018).
   Dvorak CC, Haddad E, Buckley RH, Cowan MJ, et al · · 2019 · cited 62× · PMID 30193840 · DOI 10.1016/j.jaci.2018.08.027
6. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.
   Dorsey MJ, Wright NAM, Chaimowitz NS, Dávila Saldaña BJ, et al · · 2021 · cited 45× · PMID 33006109 · DOI 10.1007/s10875-020-00865-9
7. Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.
   Cuvelier GDE, Logan BR, Prockop SE, Buckley RH, et al · · 2022 · cited 39× · PMID 35671392 · DOI 10.1182/blood.2022016196
8. Primary Immune Deficiency Treatment Consortium (PIDTC) report.
   Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, et al · · 2014 · cited 35× · PMID 24139498 · DOI 10.1016/j.jaci.2013.07.052