A retrospective study in patients with metachromatic leukodystrophy
Research type
Research Study
Full title
A retrospective, observational, real world study to describe the treatment pathway, healthcare resource utilisation, and clinical outcomes in patients with metachromatic leukodystrophy
IRAS ID
279868
Contact name
Simon Jones
Contact email
Sponsor organisation
Orchard Therapeutics PLC
Clinicaltrials.gov Identifier
NA, NA
Duration of Study in the UK
0 years, 2 months, 0 days
Research summary
This is a multi-centre retrospective, observational, real-world study to describe the treatment, healthcare resource utilisation and clinical outcomes in patients with metachromatic leukodystrophy (MLD). The study design is a retrospective review of hospital medical records in order to capture resource use in the routine management of patients with MLD. All data will be collected by members of the patients' direct care team.
MLD is a rare, life-threatening inherited metabolic disorder caused by a genetic mutation which results in insufficient enzyme activity and the accumulation of fats called sulfatides. This causes loss/destruction of the myelin sheath (protective layer) around cells in the central and peripheral nervous system. Patients experience a progressive deterioration in their neurological and motor function.
Currently there are no effective treatments for MLD. Stem cell transplantation has variable outcomes and is not regarded as standard of care. Enzyme replacement therapy is also under investigation. Treatment is generally symptomatic and involves individualised medications for seizures and pain, antibiotics and sedatives, as well as physiotherapy, hydrotherapy and tube feeding or gastrostomy in the later stages of the disease.
There is a notable lack of literature describing the burden of MLD in the United Kingdom (UK) National Health Service (NHS). This study will address this data gap within the literature, aiming to provide data on UK-specific healthcare resource utilisation, demographics and clinical characteristics, care pathways and outcomes for patients with MLD.
The study population is paediatric patients (less than 17 years old) with MLD who are receiving routine clinical care in the NHS in England. The source population is very small because MLD is estimated to occur in only 1.4–1.8/100,000 live births. Two specialist (tertiary referral) centres will take part, one in northern England and the other in south-east England, and the aim is to include records for 20-30 patients.REC name
N/A
REC reference
N/A