What is Substrate Reduction Therapy?
Substrate Reduction Therapy (SRT) is a medical approach aimed at decreasing the synthesis of substrates that accumulate due to specific metabolic disorders. In the context of
neonatal disorders, SRT targets genetic diseases where dysfunctional enzymes lead to the buildup of toxic substances, causing severe clinical manifestations.
How Does SRT Work?
SRT works by inhibiting the production of substrates that cannot be adequately metabolized due to enzyme deficiencies. For instance, in conditions like
Gaucher Disease and
Niemann-Pick Disease, specific inhibitors are used to reduce the accumulation of harmful glycolipids in cells. By limiting substrate synthesis, SRT helps mitigate the toxic effects of these accumulations.
These disorders share a common feature: the body cannot break down certain lipids or other substrates, leading to their accumulation and subsequent cellular damage.
Targeted Treatment: By specifically reducing the synthesis of problematic substrates, SRT offers a targeted approach, minimizing systemic side effects.
Improved Quality of Life: Reducing substrate accumulation can alleviate symptoms, improving the overall quality of life for affected infants and their families.
Complementary to Other Therapies: SRT can be used alongside other treatments, such as
Enzyme Replacement Therapy (ERT), to enhance therapeutic outcomes.
Incomplete Efficacy: SRT may not completely halt substrate accumulation, especially if the disease is already advanced.
Side Effects: Inhibitors used in SRT can have off-target effects, leading to adverse reactions in some patients.
Not a Cure: SRT manages symptoms but does not cure the underlying genetic defect causing the disorder.
Miglustat: A well-known SRT agent used to treat Gaucher Disease and Niemann-Pick Disease Type C.
Eliglustat: Another SRT agent for Gaucher Disease Type 1, offering an alternative with potentially fewer side effects.
How is SRT Administered?
SRT is typically administered orally, making it easier to incorporate into daily routines, especially for infants and children. The dosage and frequency are tailored to the specific disorder and the patient’s clinical status.
Is SRT a Long-Term Solution?
SRT is generally considered a long-term management strategy. Continuous monitoring and adjustments are necessary to ensure optimal outcomes. Regular follow-ups with a healthcare provider are essential to assess the therapy’s effectiveness and manage any adverse effects.
