Condition category
Nutritional, Metabolic, Endocrine
Date applied
Date assigned
Last edited
Retrospectively registered
Overall trial status
Recruitment status
No longer recruiting
Publication status
Results overdue

Plain English Summary

Not provided at time of registration

Trial website

Contact information



Primary contact

Dr Pilar Giraldo Castellano


Contact details

Servicio de Hematología
Hospital Universitario Miguel Servet
Paseo Isabel La Católica 1-3
+34 670285339

Additional identifiers

EudraCT number number

Protocol/serial number


Study information

Scientific title

Rational use of substrate reduction therapy and enzyme replacement therapy in patients with type I Gaucher disease: an open-label single-centre follow up study


Study hypothesis

The aim of this study is to evaluate the long-term effect of miglustat (substrate reduction therapy) as first-line treatment in mild to moderate Gaucher Disease (GD) and its effectiveness as maintenance therapy either in patients with type I GD who have achieved a stable condition with enzyme replacement therapy or in patients with severe disease who have not reached the objectives of the treatment.

Substrate Reduction Therapy (SRT) is an effective alternative to Enzyme Replacement Therapy (ERT) in type I GD. It is administered orally, therefore it is more comfortable, has lower direct and indirect administration costs. The SRT would have indication and efficacy in patients who have reached treatment goals, for who maintaining response is necessary and in patients with advanced disease who have not reached treatment goals.

Ethics approval

Clinical Research Ethics Committee of Aragon (Comité Ético de Investigación Clínica de Aragón (CEICA).
Ref: C.I. EC07/083, 20/05/2008

Study design

Open-label single centre follow-up study

Primary study design


Secondary study design

Non randomised controlled trial

Trial setting


Trial type


Patient information sheet

Not available in web format, please use the contact details below to request a patient information sheet


Type I Gaucher’s disease


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 severity scale of 0-3 points would be eligible for SRT (100 mg/TID PO) or ERT (30 U/kg IV every 2 weeks) in function of individual characteristics and preferences. New diagnosed symptomatic patients with a severity scale of 4-8 points would be eligible for SRT (100 mg/TID PO) or ERT (60 U/kg IV every 2 weeks) in function of individual characteristics and preferences. New diagnosed symptomatic patients with a severity scale >9 points will receive ERT (60 U/kg IV every 2 weeks). Patients previously treated with ERT and have reached stability for a minimum of 2 years will receive treatment with SRT (100 mg/TID PO). For all treatment arms, the patients will be followed during 24 months. Test that will be run: Magnetic resonance imaging (MRI) spleen and liver volume measurement (basal and every 6 months), MRI femoral and lumbar spinal bone marrow infiltration (basal and months 12 and 24), biomarkers of GD activity such as chitotriosidase, angiotensin-converting enzyme (ACE), tartrate-resistant acid phosphatase (TRAP) and ferritin, and including platelets, hemoglobin and vit B12 (all visits), QLQ SF-36 (basal and months 12 and 24), global improvement scale (patient / investigator, all visits from visit 2), Visual Analog Scale for pain assessment (all visits), neurologic and neuropsychological tests including electroneurography (basal and every 6 months), physical examination and vital signs (basal and months 12 and 24)

Intervention type



Not Applicable

Drug names


Primary outcome measure

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 outcome measures

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)

Overall trial start date


Overall trial end date


Reason abandoned (if study stopped)


Participant 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

Participant type


Age group




Target number of participants


Participant 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

Recruitment start date


Recruitment end date



Countries of recruitment


Trial participating centre

Servicio de Hematología

Sponsor information


Aragon Institute of Health Sciences [Instituto Aragonés de Ciencias de la Salud] (Spain)

Sponsor details

c/o Esteban de Manuel Kenoy
Avenida Gómez Laguna 25
Planta 3

Sponsor type




Funder type


Funder name

Aragon Institute of Health Sciences [Instituto Aragonés de Ciencias de la Salud] (Spain)

Alternative name(s)

Funding Body Type

Funding Body Subtype


Results and Publications

Publication and dissemination plan

Not provided at time of registration

Intention to publish date

Participant level data

Not provided at time of registration

Basic results (scientific)

Publication list

Publication citations

Additional files

Editorial Notes