Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ACUTE

confirmed SCID

1st line – haematopoietic stem cell transplant (HSCT)

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ACUTE
|
confirmed SCID
1st line – 

haematopoietic stem cell transplant (HSCT)

HSCT is the principal treatment for all patients with SCID.[8][46]

Overall survival rates of approximately 95% have been reported in patients who undergo HSCT for SCID within the first 3.5 months of life.[8][10]

Stem cell transplantation with a human leukocyte antigen (HLA)-matched sibling donor is preferred and has been shown in multiple studies to provide better engraftment, immune reconstitution, and overall survival than unrelated HLA-matched or related HLA-mismatched donors.[24][49][50]

Unfortunately, protocols for HSCT in patients with SCID are not uniform, and multicentre collaborative studies are needed to formalise treatment and obtain standard optimal approaches.[49][51]

Plus – supportive measures before HSCT

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ACUTE
|
confirmed SCID
Plus – 

supportive measures before HSCT

Treatment recommended for ALL patients in selected patient group

The management of patients diagnosed with SCID before successful curative treatment (HSCT or gene therapy) includes the following measures to help reduce the risk of infections until there is evidence of immunocompetence: isolation from ill children and adults (hospitalisation is not required); use of boiled, filtered water to prepare formula feeds; immunoglobulin supplementation (may also be required after HSCT for persistent humoral immune deficiency); antibacterial prophylaxis; antifungal prophylaxis; antiviral prophylaxis; avoiding live attenuated viral vaccines; if blood products are indicated, using irradiated blood products, leukocyte depleted, cytomegalovirus (CMV)-negative; and stopping breastfeeding, unless there is evidence that the mother is CMV negative.[4][21][48]

Plus – enzyme replacement therapy before HSCT

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ACUTE
|
confirmed SCID
|
adenosine deaminase deficiency
Plus – 

enzyme replacement therapy before HSCT

Treatment recommended for ALL patients in selected patient group

Patients with adenosine deaminase deficiency SCID can undergo enzyme replacement therapy with pegylated adenosine deaminase (PEG-ADA).[52]

It is not a definitive treatment, and serves as a temporary measure until definitive treatment (e.g., HSCT) can be performed.[12][52]

Treatment with PEG-ADA has been shown to decrease lymphotoxic metabolites (adenosine and deoxyadenosine) and restore enzyme activity.[53]

PEG-ADA is available as elapegademase, a recombinant adenosine deaminase based on bovine amino acid sequence and conjugated to monomethoxypolyethylene glycol. It is approved for the treatment of adenosine deaminase deficiency SCID.

Long-term outcomes in patients treated with PEG-ADA have not been prospectively studied, but immune reconstitution appears to be variable.[54] In a European cohort, continued immunoglobulin replacement was required in 40% of patients treated with PEG-ADA for one year, and overall survival among those who received PEG-ADA alone (i.e., no HSCT) was 85%.[55] Patients receiving enzyme replacement therapy for ADA-deficient SCID gradually develop decreased levels of T cells, B cells, and natural killer cells with sub-optimal proliferative responses.[53]

Primary options

elapegademase: consult specialist for guidance on dose

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Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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