MUSTANG: Miglustat in Tangier Disease
Research type
Research Study
Full title
Investigating the role of Miglustat in the management of a patient with Tangier Disease: a single case experiment
IRAS ID
291868
Contact name
Tarekegn Hiwot
Contact email
Sponsor organisation
University Hospitals Birmingham NHS Foundation Trust
Eudract number
2020-005505-13
ISRCTN Number
ISRCTN17945917
Duration of Study in the UK
2 years, 5 months, 31 days
Research summary
The study aims to determine if Miglustat is an effective treatment for Tangier disease, in one patient. Tangier disease is a very rare inherited condition which interferes with how the body uses cholesterol. It leads to fat deposition in the arteries, tonsils, heart and nerves. It can cause heart disease and can cause the nerves to stop working properly leading to clumsiness and loss of strength. It can lead to patients being unable to walk.
Until recently the only way to manage Tangier disease has been a low-fat diet, but this is not a cure, and patients often still develop disability. Previously, a patient with nerve damage thought to be due to another rare disease (Niemann-Pick type C) was given the treatment for the disease, a drug called Miglustat. She actually had Tangier disease and had been misdiagnosed. She improved over several months, but when the misdiagnosis was recognised the treatment was stopped and over the next 6 months she deteriorated again. Her doctors then restarted Miglustat, and she improved. This makes us think that Miglustat may be useful in treating nerve damage in Tangier disease.
There is a patient in England who could benefit from Miglustat. NHS England is willing to pay for this expensive drug but want evidence that it works for this patient before they agree to provide it in the long term. The patient will alternately take Miglustat, then no drug, for 6 months at a time, over 2 years.
We will assess how well their nerves are working on and off the drug, and other measures including quality of life and activities of daily living. We think we know how this treatment might work and will take blood samples during the study to see if our idea is right.
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
21/NE/0048
Date of REC Opinion
25 Feb 2021
REC opinion
Favourable Opinion