If you or your child has received an AAV Gene Transfer Therapy, it is important to know potential serious side effects, what to do during an emergency, and who to call. 

If you need emergency care at a hospital other than where you received your gene therapy, it is critical that the emergency staff connect with your gene therapy team to coordinate management of care. Be sure to have a copy of your post gene therapy emergency card and any information provided by your medical team to share with local providers during an emergency. You can order your post gene therapy emergency card here. 

*Note: there is currently one FDA approved gene transfer therapy, ELEVIDYS, and several therapies in clinical trials. It’s important to consult with your medical and/or research team to understand side effects specific to the therapy you or your child has received.

When to Seek Care

Call your Gene Therapy/Research Team and seek care immediately if you notice any of the following symptoms after gene transfer therapy:

  • Persistent nausea and vomiting or unable to take steroids
    • This could result in dehydration or adrenal crisis if not treated appropriately
    • Note: Daily steroids are required for at least 60 days post gene-transfer therapy to reduce the risk of an immune response. If you or your child has severe trauma or illness and is unable to take steroids, IV corticosteroids should be given to reduce risk of adrenal crisis. Refer to PJ Nicholoff Steroid Protocol for stress dosing parentprojectmd.org/pj 
  • Decreased urine output, swelling, vomiting, bruising, decreased alertness
    • These could be symptoms of Thrombotic Microangiopathy, a rare but serious complication where tiny blood vessels get damaged and clogged by small blood clots, potentially resulting in damage to organs
  • Chest pain, rapid heart rate, difficulty breathing or shortness of breath, or persistent abdominal pain
    • These could be symptoms of Myocarditis, a sudden inflammation of the heart muscle
  • Increased weakness or muscle pain, brown colored urine, facial swelling, hoarseness, difficulties breathing, swallowing or speaking
    • These could be symptoms of Immune Mediated Myositis, where the body’s immune system mistakenly attacks the muscles
  • Abdominal pain and/or yellowing of skin or eyes
    • These could be symptoms of Liver Toxicity 

Labs & Imaging to Monitor

If you are experiencing side effects following AAV Gene Transfer Therapy, the medical team will need to monitor you or your child closely. The following labs and images are recommended: 

  • CBC with Platelets
    • *Note: corticosteroids can elevate WBC
  • Liver Function Tests
    • CMP including AST, ALT, Total bilirubin and Albumin; GGT
    • *Note: ALT and AST are elevated at baseline in Duchenne. See list of Common Labs & What they Mean 
  • If there is concern for cardiac dysfunction, arrhythmia, myocarditis, or signs of hemodynamic compromise, the emergency team should consult cardiology and monitor the following:
    • Troponin-I and/or Troponin-T levels
      • *Note: Troponin-I can be asymptomatically elevated in Duchenne. Troponin-T is often elevated in Duchenne and less specific for myocardial damage
    • EKG & Echo
      • *Large boluses of fluid should be avoided given patient risk for cardiomyopathy or acute myocarditis. If IV fluids are necessary, a slow continuous infusion may be most appropriate 
    • If you have access to a copy of your most recent (and/or baseline) EKG, Echo & lab results be sure to share with emergency providers so they can assess for changes
    • *Refer to ACTION’s Consensus recommendations for cardiac surveillance post gene transfer therapy 

If you are ever unsure of your child’s symptoms, do not wait! Always contact your medical team right away for guidance on next steps or go to the emergency department. 

Find a list of PPMD’s CDCC After-Hours Numbers here.