Lucknow: Doctors at Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS) have successfully treated a five-year-old boy suffering from X-linked adrenoleukodystrophy (X-ALD), a rare inherited disorder that affects around one in 21,000 people and damages the brain and nervous system. The treatment was carried out under the National Programme for Rare Diseases.The child underwent a bone marrow transplant, in which healthy blood-forming stem cells from a donor are transplanted to replace damaged cells. His father served as the donor.Since the father was only a half-match, the procedure was haploidentical, or half-matched, bone marrow transplant. Such transplants are performed when a fully matched donor is unavailable.
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SGPGIMS said this was its first successful bone marrow transplant for X-ALD and the first successful haploidentical transplant for the disease in North India.The transplant was carried out under the leadership of Prof Rajesh Kashyap of the department of haematology and assistant professor Dr Sayan Sinha Roy.Explaining the disease, Dr Roy said X-ALD is caused by a defect in the ABCD1 gene, which is inherited from parents. The defect prevents the body from breaking down very long-chain fatty acids, a type of fat that accumulates in tissues.The buildup damages myelin, the protective covering around nerve fibres that helps the brain communicate with the rest of the body. The disease also affects the adrenal glands, which produce hormones essential for several body functions.Dr Roy said X-ALD mainly affects boys and can progress rapidly if not treated in time, causing loss of abilities such as walking, speaking, seeing, hearing and thinking.He said a haematopoietic stem cell transplant (HSCT), commonly known as a bone marrow transplant, is currently the only treatment that can halt disease progression. The best outcomes are seen when the procedure is performed at an early stage before severe symptoms develop.The transplant team included resident doctors Dr Luis and Dr Chandrachud, senior technical officer Manoj Kumar Singh, head of medical genetics Dr Kaushik Mandal and Prof Deepti Saxena of medical genetics. SGPGIMS director Dr R K Dhiman congratulated the transplant team and the child’s family.
