Type I Gaucher?s disease Nutritional, Metabolic, Endocrine Disorders of sphingolipid metabolism and other lipid storage disorders
Conditions
Interventions
Asymptomatic patients with a severity scale of 0-3 points are not treated but monitored and assessed every 6 months (clinically, laboratory and imaging). New diagnosed symptomatic patients with a seve
Sponsors
Aragon Institute of Health Sciences [Instituto Aragonés de Ciencias de la Salud] (Spain)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients = 18 years. Diagnosis of type I GD confirmed by glucocerebrosidase assay or by the presence of mutations in the glucocerebrosidase gene 2. Patients who have received enzyme replacement therapy for at least 3 years with the same dose for at least the last 6 months 3. Stable clinical and biological disease for 2 years confirmed with at least two assessments including the one performed at baseline
Exclusion criteria
Exclusion criteria: 1. History of oculomotor palsy, ataxia or other manifestations usually associated with type 3 GD 2. Splenectomy before 18 years due to massive splenomegaly or severe cytopenia 3. Documented peripheral polyneuropathy. Intolerance to lactose 4. Diarrhoea of unknown origin within 6 months prior to visit 1 or history of significant gastrointestinal disorders 5. Cataracts or a known risk of cataract formation 6. Severe renal insufficiency 7. Active intercurrent diseases, such as human immunodeficiency virus (HIV) or hepatitis B or C 8. Dependence or current abuse of drugs or alcohol 9. Suspected hypersensitivity to miglustat or any of the excipients 10. Patients who have previously received miglustat 11. Pregnancy or breast-feeding 12. Patients who refuse to use a reliable contraceptive method throughout the study and during the three months following the discontinuation of miglustat 13. Patients receiving treatment with another investigational product or have received an investigational product in the 3 months prior to baseline
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary end point is the percentage change in liver volume in baseline visit and every six months upto 24 months measured by MRI | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. The percentage change in spleen volume every six months and bone marrow infiltration measured yearly [baseline visit (visit 1), 12 months (visit 4) and 24 months (visit 6)] by MRI 2. Changes in hAematologic parameters (haemoglobin, platelets) 3. Chitotriosidase activity measured every two years (in baseline visit and visit 6) | — |
Countries
Spain
Outcome results
None listed