Rainbow Children’s Hospital successfully treats 5-year-old child with ultra-rare genetic disorders of immunity system using Targeted Therapy

~There are only 100 cases of CHAPLE syndrome reported worldwide, the condition can be particularly challenging to diagnose as it may resemble more common disorders~

New Delhi, 8th September 2026: In a significant advancement in the management of rare paediatric diseases, Madhukar Rainbow Children’s Hospital has successfully treated a five-year-old boy diagnosed with CHAPLE syndrome, an exceptionally rare and life-threatening genetic disorder of the immune system, using targeted therapy. Under the expert care of Dr Rohan Grotra, Consultant, Pediatric Gastroenterology & Hepatology, Madhukar Rainbow Children’s Hospital, the child showed significant clinical and biochemical improvement, allowing him to become independent of the regular supportive therapies he had required for years.

CHAPLE syndrome, short for CD55 (a kind of protein), deficiency with hyperactivation of complement, angiopathic thrombosis and protein-losing enteropathy, is an inherited disorder caused by uncontrolled activation of the body's complement immune system. This can lead to damage to the intestinal and lymphatic systems, resulting in severe protein loss, chronic diarrhea, swelling, recurrent infections, nutritional deficiencies and poor growth. With only around 100 cases reported worldwide, the condition can be particularly challenging to diagnose as it may resemble more common disorders such as nephrotic syndrome, coeliac disease and inflammatory bowel disease.

In this case, the child, Sia (name changed), a resident of West Bengal, had been suffering for nearly three years with recurrent diarrhea, severe body swelling, malnutrition and growth failure. His family had sought treatment at multiple centres, and he had previously received medications including steroids, mesalamine, ivermectin and nitazoxanide. However, despite these treatments, his symptoms persisted and his overall nutritional status and well-being continued to deteriorate.

On evaluation, doctors found that the child had severe protein-losing enteropathy, a condition in which the body loses essential proteins through the intestine. His investigations revealed persistent hypoalbuminemia (low level of albumin protein), with albumin levels as low as 1.2 gm/dL, along with hypogammaglobulinemia (low level of antibodies) of 264 mg/dL. The severe loss of proteins and immunoglobulins had made him dependent on intravenous albumin and immunoglobulin infusions every fortnight. While these treatments provided temporary relief, they did not address the underlying cause of his condition or lead to sustained improvement.

Explaining the complexity of the case, Dr Rohan Grotra, Consultant, Pediatric Gastroenterology & Hepatology, Madhukar Rainbow Children’s Hospital, said, “CHAPLE syndrome can be extremely challenging to diagnose because it mimics several more commonly recognised disorders. In this child, the persistent protein loss, severe hypoalbuminemia and hypogammaglobulinemia, along with the poor response to previous treatments, prompted us to investigate a possible genetic cause. Genetic testing confirmed a truncating mutation in the CD55 gene, allowing us to identify the underlying disease mechanism and move towards a more targeted treatment approach.”

Once the diagnosis was established, the team decided to initiate treatment with pozelimab, a US FDA-approved therapy specifically indicated for CHAPLE syndrome. However, accessing the treatment posed another challenge, as the orphan drug is not commercially available in India. The hospital team directly coordinated with the pharmaceutical company to procure the medicine from the US on a compassionate basis.

Following the initiation of pozelimab therapy, the child demonstrated a remarkable clinical response. Within 10 days, the swelling on his face and body had disappeared, while his general activity levels and overall well-being also improved significantly. Biochemical parameters, including albumin, total protein and immunoglobulin levels, showed substantial improvement.

As the child's protein and immunoglobulin levels normalised, his dependence on regular albumin and immunoglobulin replacement therapy gradually ceased. No treatment-related adverse effects have been reported so far. The child is currently doing well clinically and no longer experiences the symptoms that had affected him for several years. He continues to receive pozelimab, along with vitamins and a prophylactic antibiotic, under regular medical follow-up.

Speaking about the significance of the case, Dr Rohan Grotra said, “this case demonstrates how advances in genetic testing and precision medicine can transform outcomes, even in exceptionally rare diseases. Traditionally, children with CHAPLE syndrome require repeated supportive therapies to manage the consequences of protein loss. Identifying the genetic cause allowed us to target the disease mechanism itself. The child's rapid clinical improvement and eventual independence from supportive replacement therapies highlight the potential of targeted treatment in changing the course of such complex conditions”.