SPARKLE
Research type
Research Study
Full title
THE ALPHA-MANNOSIDOSIS REGISTRY: A multi-centre, multi-country, non-interventional, prospective cohort, in alpha-mannosidosis patients
IRAS ID
270514
Contact name
Karolina Stepien
Contact email
Sponsor organisation
Chiesi Farmaceutici S.p.A.
Duration of Study in the UK
15 years, 0 months, 3 days
Research summary
This Registry is being conducted to gather additional data in the context of post-marketing surveillance. As a condition of Lamzede marketing authorization and its Risk Management Plan, the Alpha-mannosidosis registry is requested to obtain long term data on effectiveness and safety; furthermore, the Registry will expand the current understanding of alpha-mannosidosis by collecting additional data on natural history in alpha-mannosidosis patients despite the therapeutic treatment they are receiving.
Human alpha-mannosidosis is a rare genetic disorder, resulting in mental retardation, skeletal changes, hearing loss and recurrent infections. The epidemiology of alpha mannosidosis is poorly understood. The incidence of the disease ranges from 1 in 500,000-1:1,000,000 worldwide. Life expectancy in alpha-mannosidosis is highly variable. Individuals with early onset severe disease often do not survive beyond childhood, whereas those with milder disorders may survive well into adulthood. Clinical expression of alpha-mannosidosis varies from a few symptoms to death. The long term prognosis of the disorder is poor, although some patients can reach over 50 years of age.
Lamzede is the only authorised treatment for alpha mannosidosis in the EU. Prior to its approval, the only available treatment focused on the relief of symptoms, and prevention of complications and impairments. These treatments and procedures are designed individually based on symptoms and age. Bone marrow transplantation has been used as a therapeutic strategy for alpha mannosidosis, but comes with a risk of mortality and morbidity. Palliative treatments include physiotherapy, respiratory physiotherapy or antibiotic treatment for recurrent infections.
This study is a non-interventional prospective registry which aims to collect data from patients with alpha-mannosidosis in order to improve understanding of treatment with Lamzede and of the disease itself. The duration of the observation period for each patient will be 15 years.
REC name
East of England - Essex Research Ethics Committee
REC reference
20/EE/0083
Date of REC Opinion
19 Jun 2020
REC opinion
Further Information Favourable Opinion