Recognition and management of autosomal recessive CGD

See Tatum’s inspiring story from diagnosis of autosomal recessive CGD to treatment with ACTIMMUNE.

Recognizing autosomal recessive chronic granulomatous disease (CGD) case study

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Learn More About Autosomal
Recessive CGD

35% of CGD cases are inherited in an autosomal recessive manner1

An autosomal recessive CGD diagnosis may be delayed because of milder disease manifestations compared with those of X-linked CGD2,3
  • Within CGD, the autosomal recessive type is frequent and heterogeneous2,3
  • It includes 4 different forms of genetic defects, and this spectrum explains a considerable heterogeneity of disease severity1,3,4
  • It affects both males and females2,3
  • Patients may present later in life compared with X-linked CGD patients3

Patients with autosomal recessive CGD are at a high risk of serious infection* and mortality compared with the general population2,4,5
  • Patients with autosomal recessive CGD can be difficult to recognize and diagnose
  • Serious infections may be less frequent when compared to those of X-linked CGD, but may still be life threatening
  • While survival for patients with autosomal recessive CGD is higher than that of X-linked patients, it remains below that of the general US population4
  • CGD should be considered in anyone presenting with recurrent, nonresolving, or pathognomonic infections5,6
Chronic granulomatous disease life expectancy chart showing differences in outcomes between the general US population, patients with X-linked CGD, and patients with autosomal recessive CGD. The chart shows a declining survival rate for X-linked CGD patients, with a rate less than 60% after 40 years of age, as well as a declining survival rate among autosomal recessive CGD patients, with few survivors after Age 65. Both survival outcomes are lower than than the General US population at similar ages

Chronic granulomatous disease life expectancy chart showing differences in outcomes between the general US population, patients with X-linked CGD, and patients with autosomal recessive CGD. The chart shows a declining survival rate for X-linked CGD patients, with a rate less than 60% after 40 years of age, as well as a declining survival rate among autosomal recessive CGD patients, with few survivors after Age 65. Both survival outcomes are lower than than the General US population at similar ages

Reduce the risk of serious infections for autosomal recessive CGD patients with ACTIMMUNE7,8

ACTIMMUNE delivered efficacy across various patient types, including autosomal recessive patients.7,8†

  • In subgroup analyses, ACTIMMUNE was beneficial regardless of age or type of CGD inheritance. There was a 67% reduction in relative risk of serious infection† in patients receiving ACTIMMUNE compared with placebo across all groups

*Serious infection was defined as a clinical event requiring hospitalization and intravenous antibiotics.

†Most patients in the clinical study also received prophylactic antibiotics.

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References: 1. Noack D, Rae J, Cross AR, et al. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood. 2001;97(1):305-311. 2. Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27(1):89-99. 3. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, ed. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2016. 4. Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-2610. 5. Arnold DE, Heimall JR. A review of chronic granulomatous disease. Adv Ther. 2017;34(12): 2543-2557. 6. Siddiqui S, Anderson VL, Hilligoss DM, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis. 2007;45(6):673-681. 7. ACTIMMUNE® (Interferon gamma-1b) [prescribing information] Horizon. 8. The International Chronic Granulomatous Disease Cooperative Study Group. A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med. 1991;324(8):509-516. 

Approved Uses and Important Safety Information

INDICATIONS AND USAGE

ACTIMMUNE® (Interferon gamma-1b) is indicated:

  • For reducing the frequency and severity of serious infections associated with Chronic Granulomatous Disease
  • For delaying time to disease progression in patients with severe, malignant osteopetrosis
IMPORTANT SAFETY INFORMATION

CONTRAINDICATIONS

  • In patients who develop or have known hypersensitivity to interferon-gamma, E. coli derived products, or any component of the product

WARNINGS AND PRECAUTIONS

  • ACTIMMUNE should be used with caution in patients with:
    • Pre-existing cardiac conditions, including ischemia, congestive heart failure, or arrhythmia
    • Seizure disorders or compromised central nervous system function; reduce dose or discontinue
    • Myelosuppression, or receiving other potentially myelosuppressive agents; consider dose reduction or discontinuation of therapy
    • Severe renal insufficiency
    • Age <1 year
  • Monitoring:
    • Patients begun on ACTIMMUNE before age 1 year should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE dosage should be modified
    • Monitor renal function regularly when administering ACTIMMUNE in patients with severe renal insufficiency; accumulation of interferon gamma-1b may occur with repeated administration. Renal toxicity has been reported in patients receiving ACTIMMUNE
  • Pregnancy, Lactation, and Fertility:
    • ACTIMMUNE should be used during pregnancy only if the potential benefit outweighs the potential risk to the fetus
    • Use of ACTIMMUNE by lactating mothers is not recommended. ACTIMMUNE or nursing should be discontinued dependent on the importance of the drug to the mother
    • Long-term effects of ACTIMMUNE on fertility are not known

DRUG INTERACTIONS

  • Concomitant use of drugs with neurotoxic, hematotoxic, or cardiotoxic effects may increase the toxicity of interferons
  • Avoid simultaneous administration of ACTIMMUNE with other heterologous serum protein or immunological preparations (eg, vaccines)

ADVERSE REACTIONS

  • The most common adverse experiences occurring with ACTIMMUNE therapy are “flu-like” symptoms such as fever, headache, chills, myalgia, or fatigue, which may decrease in severity as treatment continues, and may be minimized by bedtime administration of ACTIMMUNE. Acetaminophen may be used to prevent or partially alleviate the fever and headache
  • Isolated cases of acute serious hypersensitivity reactions have been observed in patients receiving ACTIMMUNE
  • Reversible neutropenia, thrombocytopenia, and elevations of AST and/or ALT have been observed during ACTIMMUNE therapy
  • At doses 10 times greater than the weekly recommended dose, ACTIMMUNE may exacerbate pre-existing cardiac conditions, or may cause reversible neurological effects such as decreased mental status, gait disturbance, and dizziness

Approved Uses and Important Safety Information

INDICATIONS AND USAGE

ACTIMMUNE® (Interferon gamma-1b) is indicated:

  • For reducing the frequency and severity of serious infections associated with Chronic Granulomatous Disease
  • For delaying time to disease progression in patients with severe, malignant osteopetrosis
IMPORTANT SAFETY INFORMATION

CONTRAINDICATIONS

  • In patients who develop or have known hypersensitivity to interferon-gamma, E. coli derived products, or any component of the product

WARNINGS AND PRECAUTIONS

  • ACTIMMUNE should be used with caution in patients with:
    • Pre-existing cardiac conditions, including ischemia, congestive heart failure, or arrhythmia
    • Seizure disorders or compromised central nervous system function; reduce dose or discontinue
    • Myelosuppression, or receiving other potentially myelosuppressive agents; consider dose reduction or discontinuation of therapy
    • Severe renal insufficiency
    • Age <1 year
  • Monitoring:
    • Patients begun on ACTIMMUNE before age 1 year should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE dosage should be modified
    • Monitor renal function regularly when administering ACTIMMUNE in patients with severe renal insufficiency; accumulation of interferon gamma-1b may occur with repeated administration. Renal toxicity has been reported in patients receiving ACTIMMUNE
  • Pregnancy, Lactation, and Fertility:
    • ACTIMMUNE should be used during pregnancy only if the potential benefit outweighs the potential risk to the fetus
    • Use of ACTIMMUNE by lactating mothers is not recommended. ACTIMMUNE or nursing should be discontinued dependent on the importance of the drug to the mother
    • Long-term effects of ACTIMMUNE on fertility are not known

DRUG INTERACTIONS

  • Concomitant use of drugs with neurotoxic, hematotoxic, or cardiotoxic effects may increase the toxicity of interferons
  • Avoid simultaneous administration of ACTIMMUNE with other heterologous serum protein or immunological preparations (eg, vaccines)

ADVERSE REACTIONS

  • The most common adverse experiences occurring with ACTIMMUNE therapy are “flu-like” symptoms such as fever, headache, chills, myalgia, or fatigue, which may decrease in severity as treatment continues, and may be minimized by bedtime administration of ACTIMMUNE. Acetaminophen may be used to prevent or partially alleviate the fever and headache
  • Isolated cases of acute serious hypersensitivity reactions have been observed in patients receiving ACTIMMUNE
  • Reversible neutropenia, thrombocytopenia, and elevations of AST and/or ALT have been observed during ACTIMMUNE therapy
  • At doses 10 times greater than the weekly recommended dose, ACTIMMUNE may exacerbate pre-existing cardiac conditions, or may cause reversible neurological effects such as decreased mental status, gait disturbance, and dizziness