First gene therapy for rare genetic neurodegenerative disorder in children

pharmafile | February 7, 2022 | News story | Sales and Marketing  

NICE has published a draft highly specialised technologies guidance, recommending gene therapy atidarsagene autotemcel for some children with the rare, life-limiting inherited neurodegenerative disorder metachromatic leukodystrophy (MLD). The draft guidance looks at atidarsagene autotemcel in children with late infantile or early juvenile forms of MLD.

Clinical evidence suggests that atidarsagene autotemcel, the first ever treatment for MLD, improves motor and cognitive function in the short term and could correct the enzyme deficiency caused by the disease.

Atidarsagene autotemcel is also recommended as an option for children with the early juvenile form of the disease who have early clinical symptoms but who can still walk independently and before the onset of cognitive decline.

 “The independent committee recognised that MLD is a life-limiting, relentless, disabling and isolating condition, affecting all aspects of patients’ and caregivers’ lives. It also recognised that treatment options for MLD are limited to managing symptoms, and that there is a significant unmet need for disease-modifying therapies for MLD,” said Helen Knight, programme director in the Centre for Health Technology Evaluation at NICE.

MLD is caused by a deficiency of the enzyme Arylsulfatase-A. Without this enzyme, sulphatides build up, eventually destroying the protective myelin sheath of the nervous system. Sulphatides are responsible for proper structure and functioning of myelin. As a result of the loss of the myelin sheath protecting the nervous system, the nerves in the brain and the peripheral nerves cease to function properly. This causes a variety of symptoms including peripheral neuropathy, muscle weakness, sight and hearing loss, difficulty walking, loss of speech, cognitive decline and seizures.

Disease progression and life expectancy varies based on age when symptoms appear. Children with the late infantile type of MLD deteriorate rapidly and usually die between the ages of 5 and 8. The late infantile type of MLD starts before 30 months and is the most common and the most rapidly progressing type. Children with early juvenile MLD, which usually starts between 30 months and 6 years, have a life expectancy between 10 and 20 years after onset. It is thought there are around 5 children born each year in England with MLD.

Ana Ovey

Related Content

No items found

Latest content