New Delhi, Sep 10 (PTI) A five-year-old boy suffering from an ultra-rare genetic disorder of the immune system has been successfully treated with targeted therapy at a city hospital, which said the child has become independent of regular albumin and immunoglobulin infusions.
The boy, a resident of West Bengal, had been suffering for nearly three years from recurrent diarrhoea, severe swelling, malnutrition and growth failure, according to Madhukar Rainbow Children’s Hospital. He had received treatment at multiple centres, but his condition continued to deteriorate, it said.
Doctors diagnosed him with CHAPLE syndrome, a rare inherited disorder caused by uncontrolled activation of the body’s complement immune system. The condition can cause severe protein loss, chronic diarrhoea, swelling, recurrent infections, nutritional deficiencies and poor growth.
Only around 100 cases of CHAPLE syndrome have been reported worldwide, and the condition can be difficult to diagnose as its symptoms can resemble more common disorders such as nephrotic syndrome, coeliac disease and inflammatory bowel disease.
On evaluation, the child was found to have severe protein-losing enteropathy, with albumin levels as low as 1.2 gm/dL and immunoglobulin levels of 264 mg/dL. He had become dependent on intravenous albumin and immunoglobulin infusions every fortnight, doctors said.
Genetic testing confirmed a truncating mutation in the CD55 gene, helping doctors identify the underlying cause and opt for targeted treatment, said Dr Rohan Grotra, consultant, paediatric gastroenterology and hepatology at the hospital.
The medical team started treatment with pozelimab, a US FDA-approved therapy specifically indicated for CHAPLE syndrome. Since the orphan drug is not commercially available in India, the hospital coordinated with the pharmaceutical company to procure it from the US on a compassionate basis.
The child showed a significant response within 10 days of starting the therapy, with the swelling on his face and body disappearing and his activity levels and overall well-being improving, doctors said, adding that his albumin, total protein and immunoglobulin levels also improved substantially.
As his protein and immunoglobulin levels normalised, he was gradually taken off regular albumin and immunoglobulin replacement therapy. No treatment-related adverse effects have been reported so far, and he continues to receive pozelimab along with vitamins and a prophylactic antibiotic under regular follow-up, the hospital said.
“This case demonstrates how advances in genetic testing and precision medicine can transform outcomes, even in exceptionally rare diseases,” Grotra said, adding that identifying the genetic cause enabled doctors to target the disease mechanism rather than merely manage the consequences of protein loss.
The hospital said the child’s rapid clinical improvement and eventual independence from supportive replacement therapies highlight the potential of targeted treatment in managing CHAPLE syndrome. PTI SGV PRK
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