A Prospective Natural History Study of the Diagnosis, Treatment, and Outcomes of Children with SCID Disorders

Protocol
10-150
Full Title
A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders (PIDTC Protocol #6901)
Purpose

Infants and children with primary immune deficiencies (PID) are at risk for severe, life-threatening infections and their complications — such as pneumonia, poor growth due to chronic diarrhea, recurrent ear infections, and other complications. PID are rare, inherited diseases. Due to the rarity of these disorders, the best approach to treatment and the outcome of these treatments are difficult to determine in any one center. In view of this, physicians and researchers caring for PID have come together to form the Primary Immune Deficiency Treatment Consortium (PIDTC) so they can pool their experience and study PID together.

This study will help researchers determine which treatments for PID lead to the best long-term success. To follow the progression of PID, researchers will review and collect patients’ medical information, which may include demographic information such as age at diagnosis, sex, medical history, and PID-related information.

Researchers hope to use the information obtained in this study to identify factors contributing to best outcomes following hematopoietic cell transplantation in children with PID. Clinical outcomes that will be evaluated include pre- and post-transplant infections, acute and chronic graft-versus-host disease, development of autoimmunity, growth and development, and quality of life.

Eligibility

To be eligible for this study, patients must meet several criteria, including but not limited to the following:

  • Patients must have a confirmed diagnosis of severe combined immunodeficiency (SCID), including leaky SCID, Omenn syndrome, or reticular dysgenesis (SCID with low white blood cell count).
  • Patients of all ages are eligible to participate.

For more information about this study and to inquire about eligibility, please contact Dr. Richard O’Reilly at 212-639-5957.

Disease(s)
Blood and Marrow Transplantation: Transplantation
Hematology: Hematologic Disorders
Locations