SIOD Q&A

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Schimke immuno-osseous dysplasia (SIOD) is an extremely rare genetic disease that affects multiple systems in the body, including the kidneys, growth plates and cartilage, heart and arteries, lungs, and immune system. SIOD occurs when both a mother and father carry an abnormal gene. It affects approximately 1 in 1-2 million babies born in North America. SIOD is either severe with early-onset symptoms starting as an infant, or mild with late-onset symptoms starting in the teen years.
Nearly all children with SIOD are short-statured, the first obvious sign. Short-stature is caused by a skeletal disorder called spondyloepiphyseal dysplasia, where the bones in the spine, arms and legs do not fully develop. A doctor might also notice that your child is failing to grow properly or has immune system problems (i.e. a T-cell deficiency leading to a weak immune system that leaves your child vulnerable to serious infections). Fatigue and kidney disease are also common signs of SIOD.
Traditional treatment for SIOD involves simply managing symptoms. When kidney failure progresses, children must receive dialysis and eventually a kidney transplant to stay alive. Stem cell transplants can also be used to treat immunodeficiency and blood abnormalities.
Our physician-scientists are studying a novel approach to treating SIOD that’s a potential cure for the kidney disease and immune problems caused by SIOD. This treatment is a two-transplant approach—a haploidentical stem cell transplant, which provides your child with a new immune system, followed by a kidney transplant from the same donor, usually a parent. Since your child’s new immune system recognizes its new kidney, it is less likely to reject it.

Have you tried this approach with other children? How are they doing?

Of the first three children treated with this method at Stanford Children’s Health, all three were successfully transplanted and all three achieved full donor engraftment—meaning the transplanted stem cells grew into healthy cells, including those that are part of the immune system.. The three children, two of whom are siblings, achieved normal kidney function without the use of long-term anti-rejection medicines.
This novel treatment approach is potentially a cure for SIOD. When a new immune system is adopted from a donor—one that recognizes the transplanted kidney as its own—the possibility of chronic rejection of the kidney appears to be eliminated, along with the need for long-term medication. The body is no longer in a state of constantly fighting itself, and children treated with this method are experiencing more energy and less fatigue. By removing the need for medication, doctors also remove toxicities associated with these medications. Without medications and long hours of dialysis, quality of life for children is often improved.
Hematopoietic stem cell transplantation can be a curative therapy for children and young adults with immunological, hematological and metabolic diseases as well as for patients with cancers who have not responded to standard chemotherapy.

The Pediatric Stem Cell Transplantation program was established at Lucile Packard Children’s Hospital Stanford in 1986. Since then, we have transplanted more than 900 patients.

The program is housed in a 12-bed Stem Cell Transplant Unit with HEPA-filtered air and a dedicated nursing staff on the first floor of Lucile Packard Children’s Hospital Stanford. The program is growing and will move to a new 24-bed unit. Now that the Stanford Laboratory for Cell and Gene Medicine is open, the program is capable of producing cells required for both cellular and gene therapies.

The program is an active member of the Children’s Oncology Group, the Pediatric Bone Marrow Transplantation Consortium and the Bone Marrow Transplantation Clinical Trials Network. Our stem cell transplant patients are treated on either standard of care protocols or investigational protocols for diseases and conditions that have no established therapies. The investigational protocols have all been approved by both the Food and Drug Administration (FDA) and the Stanford Investigational Review Board. The program’s attending physicians are all board-certified physicians with accreditation in hematology, oncology and/or immunology, and all are certified by the Foundation for the Accreditation of Cellular Therapy (FACT).

Our principal goals are:

Improving the effectiveness and safety of stem cell transplantation

Developing approaches to treat patients and diseases that cannot currently be successfully treated by stem cell transplantation

We are currently developing several innovative theories, including:

An antibody-mediated preparative regimen for hematopoietic stem cell transplantation that does not require either chemotherapy or irradiation, thereby eliminating the side effects associated with the use of chemotherapy and irradiation

Regulatory T lymphocytes (TR1 cells) that are being evaluated for their ability to prevent acute graft-versus-host disease in mismatched stem cell transplantation

Innovative preparative regimens with reduced or no doses of cyclophosphamide to reduce or eliminate the side effects associated with cyclophosphamide

With the opening of the Stanford Laboratory for Cell and Gene Medicine, clinical Phase 1, proof-of-concept trials using gene editing and gene transfer techniques are under development to treat patients with diverse diseases, including:

Patients with sickle cell anemia, who will be treated by the transplantation of autologous hematopoietic stem cells that have been edited to replace the sickle cell anemia gene with the normal hemoglobin gene

Patients with IPEX syndrome, a genetic immunodysregulatory disease, who will be treated by the infusion of autologous T lymphocytes that have been transduced with a lentiviral vector containing the normal FOXP3 gene followed by the transplantation of autologous hematopoietic stem cells transduced with the same FOXP3-containing lentiviral vector

Patients with acute myelogenous leukemia, who will receive TR1 cells as a means to reduce acute graft-versus-host disease and also as immunotherapy for their acute myelogenous leukemia

Pre-clinical and developmental research has been undertaken by the members of the Division of Stem Cell Transplantation and Regenerative Medicine and other scientists at Stanford University. The Stanford Laboratory for Cell and Gene Medicine makes it possible for pre-clinical research to be directly translated into Phase 1, proof-of-concept clinical trials at Lucile Packard Children’s Hospital Stanford.

The clinical stem cell transplant of each patient is determined by the patient’s disease, the source of the hematopoietic stem cells used for transplantation, the stem cell donor and the patient’s prior clinical history. The stem cell donor can be the patient themselves (autologous) or someone else (allogeneic). The stem cells can come from bone marrow, peripheral blood or cord blood. The patient’s disease and clinical history will determine the specific therapy that he or she receives prior to transplantation. Patients are usually hospitalized for 1 to 2 months depending upon their clinical status. After their discharge, patients will have follow-up visits in the outpatient clinic, including the long-term follow-up clinic.