Natural History Study of SCID Disorders

ABSTRACT:

Individuals, including infants who were identified by newborn screening, with a recent/new diagnosis of severe combined immune deficiency (SCID) may be eligible to be enrolled in the PIDTC research study: A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders. To determine eligibility for this study, potential participants (or, in the case of children, their parents/guardians) should consult with their doctors. The study follows participants with SCID prospectively. That is, the study enrolls participants who already have a plan to receive a blood and marrow transplant (BMT), enzyme therapy, or gene therapy in the future. After the procedure, participants are followed according to a study schedule. The participants' study visits will coincide with the follow-up visits with their doctors as part of their regular ongoing medical care. Participants with “leaky SCID”, reticular dysgenesis, and Omenn syndrome may also be eligible to participate in this study. As the PIDTC recognizes that there are many complex factors that go into the decision of which therapy (BMT, enzyme therapy, or gene therapy), the study does NOT dictate how the doctors should treat their patients. The decisions regarding therapy are made by the participants and their doctors. The study simply follows the participants' progress over time. This study does not involve experimental therapies.

A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders has been open since August 2010 and continues to be open and enrolling patients to the present day. The study plans to enroll approximately 540 patients with SCID. By studying new patients undergoing treatment for SCID, the goal is to learn more about: (1) outcomes from the treatment of SCID in the modern era of medicine, (2) what factors lead to the best long-term outcomes, such as best donor, conditioning regimen, timing of transplant, etc. and (3) what impact newborn screening and the early diagnosis of SCID has had on the long-term outcomes following BMT or gene therapy. A significant amount of information is also being gathered on how and when the immune system recovers after BMT, quality of life for long-term survivors, and about whether children develop normally after treatment.

A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders is the largest coordinated prospective study of patients with SCID ever performed. Information that we will learn, both now and in the future, will help doctors and other health professionals to better treat children with SCID. All hospitals within the PIDTC are enrolling patients with SCID for A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders study, ensuring that the outcomes are reflective of what happens in the “real world” as opposed to at just one or two large centers.

PROVIDER: phs001392 | dbGaP |

SECONDARY ACCESSION(S): PRJNA392089PRJNA392090

REPOSITORIES: dbGaP