Providing treatment through transplantation for children with rare non-malignant conditions
The Center for Cell and Gene Therapy for Non-Malignant Conditions (CCGNC) at Johns Hopkins All Children’s brings together a skilled team of specialists in immunology, hematology, oncology, bone marrow transplant, and other areas of medicine with experience in diagnosing and treating rare disorders through transplantation.
Bone marrow transplantation has long been the best or only curative option for several serious non-malignant conditions, including sickle cell disease, primary immunodeficiencies and metabolic disorders. However, only 25% of patients will have an unaffected sibling donor and a suitable unrelated match can be located for fewer than 60% of remaining patients. Using alternative donor sources — such as half-matched family donors — could be a viable option, however that may carry the risk of serious transplant related complications such as graft versus host disease.
Treatments have evolved that reduce the risk of these complications and provide more opportunities for patients for whom transplantation may not have been an option before. Using advanced cell processing methods, we can remove the specific cells that are responsible for causing adverse reactions to transplantation while preserving the immune cells that fight infection and enable successful transplantation. In addition, gene therapy can be lifesaving for several genetic conditions, and involves using a patient’s own bone marrow cells that are genetically modified to correct the underlying abnormality, and then re-infused.
Learn more about our referral process.
Conditions We Treat
Hemoglobinopathies are inherited conditions such as sickle cell disease and thalassemia that affect the number and shape of red blood cells in the body. In sickle cell disease, which is the most common inherited blood disorder, the red blood cells are shaped like sickles or crescent moons. This inhibits the blood cells from carrying oxygen throughout the body effectively, causing anemia, pain, swelling of the hands and feet, infections, and other serious symptoms. In thalassemia, the body has less hemoglobin than normal, which can cause anemia and fatigue. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body.
Both sickle cell disease and thalassemia can be cured by bone marrow transplantation, which replaces defective red cells with healthy cells, thereby restoring normal oxygen carrying capacity. There are also gene therapy approaches that are being developed in clinical trials that can cure or improve these conditions.
Severe combined immunodeficiency (SCID) and leaky SCID
SCID is a rare genetic condition that causes life threatening problems with the immune system. It is a type of primary immune deficiency that typically manifests in early infancy. White blood cells, especially the lymphocytes, are important to protect the body from infections and foreign invaders. In a child with SCID, the body makes too few lymphocytes or lymphocytes that do not work properly. SCID is often diagnosed by newborn screening and is universally fatal if left untreated.
Fortunately, effective treatments, such as bone marrow transplantation, exist that can cure the disorder. Gene therapy has also shown promising results in clinical trials for certain subtypes of SCID. Leaky SCID is a less severe, but still serious, form of SCID that results in increased susceptibility to infections and auto-immune problems.
Non-SCID primary immunodeficiencies
In primary immunodeficiencies, the immune system is weakened, meaning it is difficult for the body to fight infection. Infections in people with primary immunodeficiencies typically occur more frequently, last longer and are harder to treat. Primary immunodeficiencies may also cause inflammation, blood disorders like anemia, digestive problems, and growth and development issues. Bone marrow transplantation may be a curative option depending on the type of primary immunodeficiency.
Non-SCID primary immunodeficiencies we treat include:
- Chronic granulomatous disease (CGD)
- Leukocyte adhesion deficiency
- MonoMac syndrome
- X-linked hyper-IgM syndrome
- DOCK8 deficiency
- Zap70 deficiency
- Common variable immunodeficiency (CVID)
- Wiskott-Aldrich syndrome (WAS)
- NEMO deficiency
Immune dysregulation disorders
Immune dysregulation disorders are a group of rare inherited disorders that cause abnormal functioning of the immune system, affecting multiple organ systems in the body. People need an intact immune system to help the body fight infection and illness; however, an overactive immune system can attack a person’s own body, causing dangerous inflammation and organ damage. Immune dysregulation disorders are complex and difficult to diagnose mainly due to overlap of symptoms with other common disorders. There are several targeted treatments available now to dampen the dysregulated immune system. Bone marrow transplantation can be curative in certain conditions.
Immune dysregulation disorders we treat include:
- Immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome
- CTLA-4 deficiency
- LRBA deficiency
- STAT gain-of-function (STAT1 and STAT3)
- X-linked lymphoproliferative disease (XLP)
- Hemophagocytic lymphohistiocytosis (HLH)
- Systemic Langerhans cell histiocytosis (LCH)
Bone marrow failure syndromes
Bone marrow failure syndromes are a group of rare inherited blood disorders in which there is usually some form of failure of the bone marrow to produce certain type of blood cells, sometimes associated with a family history of same disorder. Some of these conditions have characteristic changes in physical appearance or in laboratory findings which suggest a specific syndrome. Patients with these syndromes have a very high risk of developing some form of cancer (either leukemia or certain solid tumors). Bone marrow transplantation can be curative for hematological problems associated with these syndromes.
Bone marrow failure syndromes we treat include:
- Severe aplastic anemia
- Fanconi anemia
- Dyskeratosis congenita
- Diamond Blackfan Anemia
- Shwachman- Diamond syndrome
- Severe Congenital Neutropenia
Other rare disorders that can be treated by bone marrow transplantation:
- Mucopolysaccharidosis (e.g. Hurler syndrome)
What to Expect
When you or your child’s physician contacts our program about possible cell or gene therapy options, as first steps we:
- Gather all relevant information from the treating doctor, including test results, diagnostic imaging, biopsies and other ongoing treatment plans.
- Present all this diagnostic information to our expert team to decide what kind of cell or gene therapy options might be offered to help with your child’s condition.
- Schedule your child and family for a clinic visit in our Blood and Marrow Transplant Clinic for additional testing, examination and consultation with the selected team of pediatric specialists.
After testing and individual examinations are complete, the team of specialists meets to review your child’s case and decide on how and when to begin treatment. The team presents that plan to you at the family meeting and answers any questions you or your child may have.
A summary of the consultation with the details of the treatment plan will be shared with your child’s referring physician and any other specialists who will play a role in your child’s ongoing care.
You can access this consultation report via “MyChart” in the electronic medical record. The center also serves as an entry point for relevant therapeutic clinical trials and research studies, some of which are being conducted at Johns Hopkins All Children’s Hospital.
Learn more about our related programs
Organizations that provide resources for families include:
For more information or to make an appointment, call Michelle Cooper, RN, BMT coordinator, at 727-767-3984.
Records may be faxed to 727-498-0849.
Meet Our Team
Meet the physicians on our treatment teams.
See our active clinical trials and research studies.
Brothers Jerrick, 5, and Evian, 2, were diagnosed with the same rare, life-threatening genetic immunodeficiency. They received bone marrow transplants at Johns Hopkins All Children’s, and are now back to being healthy, energetic kids. The physicians who have treated them are also researching the disease to continue to advance treatments for future patients.
The Johns Hopkins All Children’s Center for Cell and Gene Therapy for Non-Malignant Conditions is supported by the Love McKinley Foundation.