The Challenges of Diagnosing, Treating and Finding a Cure for Primary Immunodeficiency – One Doctor’s Perspective

More patients are being properly diagnosed and treated than ever before, but obstacles remain in the pursuit of a cure.

By John Sleasman, MD

April 27, 2017

Immunologists are using innovative treatments such as cell-based therapies at Duke Children’s Hospital and Health Center (pictured above), which involves replacing missing cells or genes to correct primary immune deficiency diseases.

Photo courtesy of Duke Health

This is an exciting time in the Department of Pediatrics at Duke School of Medicine’s Division of Allergy and Immunology. Late last year we opened the Jeffrey Modell Center (JMF) for research and clinical care for children with primary immunodeficiency (PI) diseases — a group of more than 300 rare, chronic disorders in which part of the body’s immune system is missing or functions improperly.

Research at the new JMF center is focused in three areas:

  • Identification of new genetic forms of PI.
  • Use of thymus gland transplantation to treat immune conditions of thymic hypoplasia such as complete DiGeorge Syndrome.
  • Development of novel treatments for antibody deficiencies, including new uses of gamma globulin.

We have made significant progress in recent years in the field of immunology, especially with regard to diagnosis and treatment of PI. But as a clinician, I would be remiss not to point out some of the challenges that we still face, including the need for more emphasis on new therapies.

Appropriate studies lacking

There is a lack of basic scientific studies that could enable us to identify the genetic and mechanistic causes of PI.

At the core of the issue, there is a lack of basic scientific studies that could enable us to identify the genetic and mechanistic causes of PI, rather than simply diagnosing them on the basis of clinical and laboratory findings. As a result, we are moving too slowly toward fundamental cures for PI, and are still a long way away.

Other forms of subtle immune deficiency, such as the inability to clear bacterial infection from the respiratory tract that result in chronic infection are not being studied using large scale clinical trials, yet they contribute considerably to the cost and morbidity associated with PI. This is an ongoing concern for immunologists, pulmonologists and infectious disease physicians.

Gap between general practitioners and specialists

Many general practitioners (GP) are not adequately trained to detect the rare patient with PI in their practice. Thus there is a gap between GPs and specialists that can delay diagnosis and treatment. This is an area on which Continuing Medical Education needs to focus. Moreover, healthcare professionals should think, patho syntheology, i.e., why does this patient have pneumonia or other symptom?

Compounding the situation is the lack of specialty laboratories in some areas that offer testing for immune deficiencies.  This is critical for neonates with immune deficiencies that can be identified at an early age through newborn screening.

Access to care

Access to care can be especially frustrating for patients who are not always getting the medicines they need such as gamma globulin and specialized antibiotics, and for their physicians as well. It is more important than ever for drug companies to help patients with the cost of medicines.

Compounding the situation is the lack of specialty laboratories in some areas that offer testing for immune deficiencies.

Government action, or lack of it, can also impede access. In 2011, Florida passed legislation requiring all newborn babies to be screened for SCID. Tragically, the legislation was vetoed by the governor of Florida, which delayed screening for a year. During that period several infants were born in Florida who weren’t screened. Their parents were unaware of their condition until the children developed disseminated infections, at which time treatment is much more difficult and results in lower success rates.

Cause for optimism

All of the challenges notwithstanding, there is much cause for optimism. The global network of JMF centers, which are helping to drive research, is a reflection of our determination to conquer this disease. I think the use of genetically engineered antibodies and cell therapies will have a tremendous impact on the treatment of PI. Cell therapy involves the use of cells to fight a particular infection. Gene therapy offers another possibility for a cure for several immune deficiencies.

All of the challenges notwithstanding, there is much cause for optimism.

I treat a young girl who is one year out of gene therapy for the adenosine deaminase deficiency form of SCID. She has not spent a single day in the hospital for infection. Her therapy involves taking her bone marrow, incubating it with the genetically engineered virus that contains her missing gene, and replacing the gene into her bone marrow cells.

Breakthrough treatments and even more importantly, cures, for immune deficiencies are on the horizon. For an immunologist, this is truly an exciting time.

###

Dr. Sleasman is Chief of the Division of Allergy, Immunology, and Pulmonary Medicine in the Department of Pediatrics, Duke School of Medicine

Leave a Reply

Posts represent the opinion of the author and do not necessarily reflect the views of CSL Behring.
This site is not intended as a forum for discussing CSL Behring or other companies' products.
Comments on this blog may be reviewed by CSL Behring and may be subject to removal if they are deemed to have inappropriate content.