Related Experiment Video
Updated: Aug 19, 2026
In Vitro Methods for Comparing Target Binding and CDC Induction Between Therapeutic Antibodies: Applications in Biosimilarity Analysis
Published on: May 4, 2017
Targeted complement inhibition with pozelimab in children with CD55 deficiency
Rohan Grotra1, Himanshu Bhadani1, Rohan Malik2
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, All India Institute of Medical Sciences New Delhi, New Delhi, India.
Insights
CHAPLE syndrome, a rare genetic disorder causing protein-losing enteropathy, was effectively treated in two children using pozelimab. This targeted therapy rapidly resolved symptoms and normalized protein levels, highlighting the importance of early complement inhibition.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- CHAPLE syndrome is an ultra-rare genetic disorder.
- It results from CD55 deficiency, leading to uncontrolled complement activation and protein-losing enteropathy (PLE).
- Patients often present with severe gastrointestinal and systemic symptoms.
Purpose of the Study:
- To report two pediatric cases of CHAPLE syndrome.
- To evaluate the efficacy of targeted therapy with pozelimab.
- To emphasize the role of genetic evaluation and complement inhibition in refractory PLE.
Main Methods:
- Clinical case reporting of two pediatric patients with PLE.
- Genetic evaluation revealing CD55 gene variants.
- Initiation of targeted therapy with pozelimab.
Main Results:
- Both patients showed rapid clinical and biochemical improvement within 2 weeks of pozelimab treatment.
- Sustained normalization of albumin, total protein, and immunoglobulin levels was observed.
- Patients achieved clinical remission, eliminating the need for albumin and immunoglobulin replacement.
Conclusions:
- Early genetic evaluation is crucial for diagnosing rare conditions like CHAPLE syndrome in children with refractory PLE.
- Targeted complement inhibition with pozelimab is a highly effective treatment for CHAPLE syndrome.
- Prompt diagnosis and treatment can lead to significant clinical improvement and long-term remission.
Abstract:
CHAPLE syndrome is an ultra-rare genetic cause of protein-losing enteropathy (PLE) resulting from uncontrolled complement activation due to CD55 deficiency. We report two paediatric patients presenting with recurrent diarrhoea, hypoalbuminaemia, hypogammaglobulinaemia and growth failure, both initially evaluated as intestinal lymphangiectasia. Persistent symptoms and poor response to conventional therapy prompted genetic evaluation, which revealed pathogenic variants in the CD55 gene in both children, confirming the diagnosis of CHAPLE syndrome. Both patients required repeated albumin and intravenous immunoglobulin replacement prior to diagnosis. Targeted therapy with pozelimab was initiated. Rapid clinical and biochemical improvement was observed within 2 weeks, with sustained normalisation of albumin, total protein and immunoglobulin levels. At 3-month follow-up, both children remained in clinical remission without further need for albumin or immunoglobulin infusions. These cases highlight the importance of considering genetic causes in children with refractory PLE and demonstrate the effectiveness of early targeted complement inhibition in CHAPLE syndrome.
