Tangier disease Nutritional, Metabolic, Endocrine Tangier disease
Conditions
Interventions
This is a n-of-1 trial of ABAB design. This means that there will only be one participant who will receive alternating periods of treatment with miglustat plus usual care, and usual care only (on/off
Sponsors
University Hospitals Birmingham NHS Foundation Trust
Eligibility
Sex/Gender
Male
Age
18 Years to 100 Years
Inclusion criteria
Inclusion criteria: This is an n-of-1 study, where the potential participant has already been identified, and is known to the investigators there are limited inclusion and exclusion criteria: 1. Diagnosis of Tangier Disease 2. Aged =18 years 3. Willing and able to provide informed consent. 4. Agrees to use effective contraception throughout the study to avoid fathering a child
Exclusion criteria
Exclusion criteria: Severe renal impairment
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Fine motor control and finger dexterity measured by the time taken to complete the 9-hole peg test at baseline, 0, 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22, and 24 months 2. Hand strength (grip strength and 3-point pinch strength) measured by force produced on the handgrip strength test and 3-point pinch strength test at baseline, 0, 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22, and 24 months | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Aerobic capacity and endurance measured by distance walked in the 6-minute walk test at baseline, 6, 12, 18, and 24 months 2. Gait, ambulation, and leg strength measured by time taken for the 10-metre walk test at baseline, 6, 12, 18, and 24 months 3. Quality of life is measured using the EuroQol 5-dimension 5-level (EQ-5D-5L) questionnaire at baseline, 0, 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22, and 24 months 4. Activities of daily living are measured using the Overall Neuropathy Limitation Scale (ONLS) and the Racsh-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies questionnaires at baseline, 0, 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22, and 24 months 5. Adverse events recorded using an adverse event form and are recorded throughout the trial 6. Nerve conduction measured using a nerve conduction study at baseline, 6, 12, 18, and 24 months 7. Clinical condition assessed using regular clinical assessment including physical examination, full blood count, measurement of lipids, urea, and electrolytes at baseline, 6, 12, 18, and 24 months 8. Mechanistic evaluation (investigating the potential mechanisms by which Miglustat does, or does not, have an effect) conducted by measuring biomarkers (relative lysosomal volume in circulating B cells; lipid analysis of circulating B cells; oxysterols; lyso-sm-509; lyso-sphingomyelin and bile acid derivatives) at baseline, 6, 12, 18, and 24 months | — |
Countries
England, United Kingdom
Outcome results
None listed