Research Studies

This study focuses on the natural history of patients with PIRD to help collect data on ideal therapies for these patients. There are two groups that are being studied. The first group enrolls patients who have clinical symptoms commonly seen in PIRD. These patients can have a known or unknown genetic defect. We will collect retrospective data from the medical chart and follow these patients over time prospectively. This study will help characterize the clinical symptoms and responses to treatments both medications and bone marrow transplant. The study will collect data yearly from the clinical record. There will also be research samples at the start of enrollment and one year later. If the patient receives a bone marrow transplant, research samples will be collected one month prior to transplant and a year later. The second group is focused on family members of PIRD patients enrolled in the first group with a known genetic mutation. These family members will have the same genetic change but do not have clinical symptoms of PIRD. These participates will answer yearly questionnaires to monitor of symptoms.

Individuals with a possible diagnosis of severe combined immune deficiency (including infants who were identified by newborn screening) may be eligible to be enrolled on the PIDTC research study 6907. Speak to your doctor to determine if you / your child may be eligible.  Protocol 6907 follows all patients with SCID, meaning the 6907 study enrolls participants regardless of whether they have already received a blood and marrow transplant (BMT), enzyme replacement therapy (ERT), or gene therapy (GT). Patients are then followed after diagnosis and treatment according to standard of care recommendations, which typically align with a schedule set out by the study protocol. The times the study requests follow up will be the same as when your doctor would want to be seeing you / your child as part of their regular ongoing medical care. Patients with “leaky SCID” (a form of SCID with T cell numbers less severely compromised) and Omenn syndrome are also eligible to participate in 6907. The 6907 research study does NOT dictate how your / your child’s doctors should treat you / your child, as the PIDTC recognizes that there are many complex factors that go into this decision.  The decision about how you / your child with SCID will be treated is made by your doctor.  The 6907 study simply follows how you / your child do over time.  There are no experimental therapies on this study.

Chronic Granulomatous Disease (CGD) is an inherited condition characterized by a defect of specific white blood cells called neutrophils. Neutrophils are important for the killing of bacterial and fungal infections. In CGD, the neutrophils are unable to make the hydrogen peroxide needed to kill bacteria and fungi. Patient with CGD are, therefore, highly susceptible to infections from certain bacterial and fungal organisms. Patients with CGD have normal immunity to other microbes, including viruses. As a result, patients with CGD have normal immunity against common infections like the common cold or stomach flu (the majority of which are caused by viruses). Children with CGD are usually healthy at birth; however, they typically develop serious bacterial and fungal infections in early childhood that are difficult to treat. Patients may have severe or frequent infections.

This study aims to evaluate patients with SCID to understand the neurodevelopmental (ND) problems following either bone marrow transplantation (BMT) also called hematopoietic cell transplantation (HCT) or gene therapy to determine if ND will be reduced in patients who are diagnosed via newborn screening compared to those diagnosed following an infection. ND outcomes also may be compromised by exposure to high dose alkylator chemotherapy used to condition patients prior to definitive therapy with HCT. However, conditioning regimens have been shown to enhance immune reconstitution and thus may be associated with better ND outcomes. It is essential to determine whether such treatments improve or worsen outcomes. Understanding ND problems in this population of patients is critical for guiding clinicians to determine the best treatment strategy for treating patients with SCID.