ERT delivers long-term benefits in Indian Gaucher disease patients
Large study: Gains observed despite delays in treatment
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Treatment with enzyme replacement therapy (ERT) led to lasting improvements across several laboratory and clinical measures of Gaucher disease in patients from India, despite many starting treatment only after developing advanced disease, a large study found.
Most benefits emerged within the first few years of treatment and were maintained for up to 15 years. Researchers also found that starting ERT earlier in life was associated with a stronger early treatment response.
“Despite significant diagnostic delays and the advanced stage of disease at presentation common in this population, long-term outcomes remain highly favourable,” researchers wrote. “Early initiation of ERT is critical for optimizing treatment response and preventing irreversible sequelae.”
The study, “Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease – A Multicentric Study,” was published in the Indian Journal of Pediatrics.
Diagnostic delays remain common in India
Gaucher disease is caused by genetic mutations that prevent the body from making enough functional glucocerebrosidase, an enzyme needed to break down certain fatty substances.
As these fatty molecules accumulate, they can damage organs and tissues, causing problems such as an enlarged liver and spleen, low levels of red blood cells (anemia), low levels of blood-clotting platelets, bone complications, and impaired growth.
ERT, the standard treatment for Gaucher disease, supplies a working version of the missing enzyme, and has been shown to ease many of the symptoms of the disease. However, most long-term studies of ERT have been conducted in Western countries, and may not fully represent outcomes seen in Indian patients.
For one, people in Western countries most commonly have type 1 Gaucher disease, a generally milder form of the disease that does not cause neurological symptoms, whereas most people in India have type 3 Gaucher disease, which is defined by neurological symptoms that appear in childhood and progress gradually over time.
The difference is compounded by challenges in accessing care in India. Diagnostic delays remain common in India because of limited awareness and diagnostic facilities, while the high cost of treatment can make access to ERT inconsistent. As a result, patients in India may begin treatment with more advanced disease than patients represented in many Western studies.
Greatest improvements occurred during the first 1 to 5 years
To learn more about the long-term outcomes of ERT in Indian patients, a group of researchers examined retrospective data from 204 people with Gaucher disease treated at 13 centers across India over a 15-year period, concluding in 2025.
Participants had a median age of 11 years, and 54% were male. About two-third (66.7%) had type 3 Gaucher, while 33.3% had type 1. Most (84.8%) had not undergone spleen removal, while 15.2% had.
The median age when symptoms first appeared was 1.5 years, while the median age at diagnosis was 2.6. Treatment with ERT did not begin until a median age of 4.3. All participants had received ERT for at least one year.
Before starting treatment, most participants had severe disease. Anemia affected 91.3% of patients who had not undergone spleen removal and 66.7% of those who had. All participants who had not undergone spleen removal had low platelet counts. Liver enlargement was substantial in both groups, and participants who had not undergone splenectomy had a median spleen volume 30 times normal.
Growth delays were also common, with about two-thirds of participants in both groups showing short stature or being underweight. Bone pain affected 19% of patients who had not undergone splenectomy and 29% of those who had. Blood levels of chitotriosidase, a marker of Gaucher disease activity, were significantly above the normal range in both groups.
ERT is effective in Indian patients with [Gaucher disease], with sustained improvements over 15 [years] comparable to international [patient groups]. Despite delayed diagnosis and challenges in treatment access, clinical outcomes are favorable.
After ERT initiation, the greatest improvements occurred during the first one to five years. Blood hemoglobin levels, a measure of anemia, improved in both patients who had and had not undergone spleen removal. Platelet counts steadily increased among those who had not undergone splenectomy, and remained stable among those who had.
Liver size declined in both groups, and spleen volume also decreased steadily among patients who retained their spleen. Bone pain became less common, height and weight increased, and chitotriosidase dropped sharply after treatment in both groups.
These improvements were largely sustained throughout long-term follow-up. Among patients with available data, hemoglobin levels returned to the normal range by year 15 and liver size normalized by year 10 in both groups. Among patients who had not undergone splenectomy, spleen volume had decreased by 88.3% by year 10.
Growth continued to improve in both groups, while bone pain became progressively less common, disappearing after 10 years in participants who had undergone splenectomy.
Children who began ERT before age 2 showed the greatest improvement in blood hemoglobin levels during the first year of therapy. Participants with type 3 Gaucher also experienced significantly greater improvements in blood hemoglobin levels than patients with type 1 Gaucher.
“ERT is effective in Indian patients with [Gaucher disease], with sustained improvements over 15 [years] comparable to international [patient groups],” the researchers concluded. “Despite delayed diagnosis and challenges in treatment access, clinical outcomes are favorable.”
