HOW DO DOCTORS DIAGNOSE ADA-SCID?
ADA-SCID is a very rare disease. By some estimates, for every million babies born in the world, only 1 has ADA-SCID. This can make it difficult to diagnose.
ADA-SCID is usually diagnosed in infants via newborn screening, which is available in all 50 US states, the District of Columbia, and Puerto Rico. When doctors notice common signs of ADA-SCID, they may order a blood test. Genetic testing can also confirm ADA-SCID.
YOUR GENES HAVE THE CLUES
ADA-SCID is a genetic disorder, meaning it’s passed down from parents to their child. For someone to have ADA-SCID, both of their parents must have a copy of a defective gene that can cause ADA-SCID.
2 parents, each with 1 defective gene, have a:
- 25% chance of having a child with 2 normal ADA genes (bottom left)
- 50% chance of having a child who has 1 ADA gene, but is not affected by ADA-SCID (bottom middle two)
- 25% chance of having a child with 2 defective ADA genes who may be affected by ADA-SCID (bottom right)
Knowing a person’s family history can help doctors decide to screen. For example, unexplained infant death or infant death due to infection could be a sign of ADA-SCID within the family.
IF YOU OR SOMEONE IN YOUR FAMILY HAS ADA-SCID, OTHER FAMILY MEMBERS MAY BE AT RISK. YOUR DOCTOR CAN HELP GUIDE YOU ON HOW TO TALK TO YOUR FAMILY ABOUT GETTING TESTED.
Important Safety Information
Warnings and Precautions:
- If you have lower than normal platelet counts, you may be at increased risk of bleeding at the injection site. Your doctor should not prescribe Revcovi if you have severely low blood platelet counts.
- There may be a delay in improvement of your immune system’s function after starting Revcovi treatment. During this delay, it is important to be protected from exposure to infections until your immune system improves.
What are the possible side effects of Revcovi?
- Cough and vomiting were the most common side effects reported by patients receiving Revcovi.
- Based on reports of side effects of other enzyme replacement therapies used to treat ADA-SCID, which are similar to Revcovi, patients taking Revcovi may also experience:
- Blood and blood cell–related problems: red blood cells being destroyed faster than they can be made, resulting in anemia; and higher or lower than normal number of platelets in the blood
- Skin-related problems: redness and itching at the injection site
- Cancers of the immune system called lymphomas
What types of monitoring will be needed while I am taking Revcovi?
- Continuous therapy and adherence to the recommended drug schedule is important for the success of the treatment.
- While you are being treated with Revcovi, your doctor will need to do blood tests to monitor the levels of ADA activity and metabolites and overall immune function.
- This monitoring will ensure you are maintaining appropriate levels for therapeutic benefit. If an ongoing decline in your blood’s measured adenosine deaminase (ADA) activity occurs, your immune function and clinical status will be monitored closely and precautions will be taken to help reduce your risk of infection.
What is known about taking Revcovi during pregnancy?
- If you are pregnant or planning to become pregnant, or breastfeeding or planning to breastfeed, please talk to your doctor.
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.
Indication
Revcovi® (elapegademase-lvlr) is indicated for the treatment of adenosine deaminase severe combined immune deficiency (ADA-SCID) in pediatric and adult patients.
Please see the Full Prescribing Information.
Important Safety Information
Warnings and Precautions:
- If you have lower than normal platelet counts, you may be at increased risk of bleeding at the injection site. Your doctor should not prescribe Revcovi if you have severely low blood platelet counts.
- There may be a delay in improvement of your immune system’s function after starting Revcovi treatment. During this delay, it is important to be protected from exposure to infections until your immune system improves.
What are the possible side effects of Revcovi?
- Cough and vomiting were the most common side effects reported by patients receiving Revcovi.
- Based on reports of side effects of other enzyme replacement therapies used to treat ADA-SCID, which are similar to Revcovi, patients taking Revcovi may also experience:
- Blood and blood cell–related problems: red blood cells being destroyed faster than they can be made, resulting in anemia; and higher or lower than normal number of platelets in the blood
- Skin-related problems: redness and itching at the injection site
- Cancers of the immune system called lymphomas
What types of monitoring will be needed while I am taking Revcovi?
- Continuous therapy and adherence to the recommended drug schedule is important for the success of the treatment.
- While you are being treated with Revcovi, your doctor will need to do blood tests to monitor the levels of ADA activity and metabolites and overall immune function.
- This monitoring will ensure you are maintaining appropriate levels for therapeutic benefit. If an ongoing decline in your blood’s measured adenosine deaminase (ADA) activity occurs, your immune function and clinical status will be monitored closely and precautions will be taken to help reduce your risk of infection.
What is known about taking Revcovi during pregnancy?
- If you are pregnant or planning to become pregnant, or breastfeeding or planning to breastfeed, please talk to your doctor.
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.
Indication
Revcovi® (elapegademase-lvlr) is indicated for the treatment of adenosine deaminase severe combined immune deficiency (ADA-SCID) in pediatric and adult patients.
Please see the Full Prescribing Information.
References available upon request.
Diagnosing ADA-SCID