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Chronic Granulomatous Disease (CGD)

What is Chronic Granulamatous Disease?

CGD is a disease of the immune system. It is described as a primary immunodeficiency disorder. “Primary” means it is not caused by some other disease or disorder.1 In people who have CGD, a type of white blood cell called a phagocyte is defective.2 These defective phagocytes cannot generate superoxide, leading to an inability to kill harmful microorganisms such as bacteria and fungi.3 As a result, the immune system is weakened. People with CGD are more likely to have certain problems such as recurrent severe bacterial and fungal infections and chronic inflammatory conditions. These patients are prone to developing masses called granulomas, which can occur repeatedly in organs throughout the body and cause a variety of problems.3

CGD was first identified in the 1950s; since then we have learned much about CGD, converting it from a disease of tragic and early complications to a disease of chronic management and high survival.4

Today with treatment, CGD is known to be a condition that most patients can manage. Studies suggest overall survival has improved over the last decade with more patients living well into adulthood.4 Approximately 1 out of every 200,000 live births in the US has CGD.4

Signs and Symptoms of CGD

An individual may begin to show signs of CGD anytime from infancy to adulthood. However, the vast majority of patients are diagnosed before 5 years of age.1

  • The signs and symptoms of CGD may include1
  • Slow growth in childhood
  • Infections caused by specific types of bacteria or fungi that affect the lungs, lymph nodes, liver, bones, or skin, which are often severe, occur spontaneously, and recur frequently
  • The formation of granulomas, particularly in the bladder and gastrointestinal tract
  • Colitis (inflammation of the colon)
  • Wounds that heal abnormally caused by excessive formation of small particles (granulomas) in the tissue

Testing for CGD

A doctor who suspects a person might have CGD may order a lab test that assesses the activity of phagocytes. There are two such tests available.1

The nitroblue tetrazolium (NBT) test1
This blood test assesses the activity of a patient’s white blood cells (phagocytes) when exposed to the chemical nitroblue tetrazolium (NBT). During this process, normal white blood cells will change the NBT, which is a yellow color, to formazan, which is a blue-black color. This change in color can be observed through a microscope. This means the cells produce the chemical needed to kill harmful microorganisms. If the white blood cells do not change the NBT to formazan, they do not have the ability to kill the microorganisms, which means the patient could have CGD.

The dihydrorhodamine (DHR) test1
Today, the DHR test is the preferred method for diagnosing CGD. In this blood test, white blood cells (phagocytes) are exposed to the chemical dihydrorhodamine (DHR) and measured using a process called flow cytometry. Normal white blood cells will emit a fluorescent light, which means the cells produce the chemical needed to kill harmful microorganisms. If the cells do not emit a fluorescent light, it indicates the cells do not produce, or do not produce enough of, the chemical needed to kill the microorganisms, which means the patient could have CGD.

Managing CGD

CGD is a chronic disease; however, its symptoms can be managed through1

  • Year-round prophylaxis with doctor-prescribed medications to help prevent recurrent infections
  • Careful lifestyle choices to avoid potentially harmful activities and environments
  • Regular checkups with a physician to facilitate early intervention as necessary

People who have CGD are highly susceptible to severe recurrent infections, which can often require hospitalization and special disease management.1,3 The most important goal in managing patients with CGD is to prevent infections.

Doctors can use a combination of three types of medications, sometimes referred to as triple-prophylaxis regimen consisting of ACTIMMUNE® (Interferon gamma-1b), antibacterials, and antifungals to try to accomplish this goal.5

For more information, please see Testing for CGD at www.ACTIMMUNE.com.

Important Safety Information (ISI)

Approved Uses for ACTIMMUNE (Interferon gamma-1b)

Chronic Granulomatous Disease (CGD)
ACTIMMUNE is approved by the US Food and Drug Administration to reduce the frequency and severity of serious infections associated with Chronic Granulomatous Disease. CGD is a genetic disorder that affects the functioning of some cells of the immune system.

Severe, Malignant Osteopetrosis (SMO)
ACTIMMUNE is approved by the US Food and Drug Administration to slow the worsening of severe, malignant osteopetrosis. SMO is a genetic disorder that affects normal bone formation.

Important Safety Information (ISI)
The most common side effects with ACTIMMUNE are “flu-like” symptoms such as fever, headache, chills, myalgia (muscle pain), or fatigue, which may decrease in severity as treatment continues. Bedtime administration of ACTIMMUNE may minimize some of these symptoms. Acetaminophen may be helpful in preventing fever and headache.

ACTIMMUNE can cause severe allergic reactions and/or rash. Do not use ACTIMMUNE if you are allergic to interferon-gamma, E. coli-derived products, or any component of the product. (See Full Prescribing Information for a list of components.) If you develop a serious reaction to ACTIMMUNE discontinue it immediately and contact your doctor or seek medical help.

At high doses, ACTIMMUNE can cause (flu-like) symptoms, which may worsen some pre-existing heart conditions. Tell your doctor if you have a cardiac condition, such as irregular heartbeat, heart failure, or decreased blood flow to your heart.

ACTIMMUNE may cause reversible changes to your nervous system, including decreased mental status, walking disturbances, and dizziness. Tell your doctor if you have a history of seizures or other neurologic disorders.

Bone marrow function may be suppressed with ACTIMMUNE and decreased production of cells important to the body may occur. This effect, which can be severe, is usually reversible when the drug is discontinued or the dose is reduced. Tell your doctor if you have, or have had, reduced bone marrow function. Your doctor will monitor these cells with blood tests at the beginning of therapy and at 3 month intervals thereafter.

Taking ACTIMMUNE may cause reversible changes to your liver function, particularly in patients less than one year old. Your doctor will monitor your liver function with blood tests at the beginning of therapy and at 3 month intervals. If the patient is 1 year or less, monitoring will be done on a monthly basis.

If you are pregnant or plan to become pregnant or plan to nurse you should consult your physician.

If you are receiving ACTIMMUNE at home, your doctor will provide to you or your caregiver appropriate instructions on the administration of the drug and disposal of the container, needles, and syringes.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

This information is not intended to replace discussions with your doctor. For additional information about ACTIMMUNE, please consult the Full Prescribing Information and the Information for the Patient/Caregiver and talk to your doctor. ACTIMMUNE is available by prescription only.

Download a copy of the ACTIMMUNE Full Prescribing Information.

References:

  1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT,Stephens K, eds. GeneReviews. Seattle, WA: University of Washington; 2012.
  2. Learn more: chronic granulomatous disease (CGD). Rare Diseases Clinical Research Network Web site. http://rarediseasesnetwork.epi.usf.edu/pidtc/cgd/. Accessed June 5, 2013.
  3. Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9(1):10.
  4. Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155-169.
  5. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010, 38(1).3-10.

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