Phamacological study to test safety of miglustat in patients with SPG11
- Conditions
- Spastic paraparesis type 11 (SPG11), caused by mutations in spatacsin protein, is characterized by the association of peripheral neuropathy, parkinsonism, ataxia, cognitive impairment, hypotrophy of the corpus callosum and retinal degeneration. The disease progresses with degeneration of motor and cognitive functions up to total dependence on caregivers. At the moment there are no therapies capable of modifying its natural history and progression.MedDRA version: 20.0Level: PTClassification code 10019903Term: Hereditary spastic paraplegiaSystem Organ Class: 10010331 - Congenital, familial and genetic disordersTherapeutic area: Diseases [C] - Nervous System Diseases [C10]
- Registration Number
- EUCTR2019-002827-14-IT
- Lead Sponsor
- IRCCS Fondazione Stella Maris
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- 10
Diagnosis of SPG11 confirmed by genetic analysis positive for biallelic mutations in the SPG11 gene.
Age > 13 years.
Moderate degree of disease severity (SPRS disease scale > 10 and < 35).
Signature of informed consent for enrollment in the study.
Acceptance of the use of contraceptive methods (for subjects of childbearing age).
Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 4
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
Diagnosis of other concomitant neurodegenerative disease.
Very severe (SPRS = 35 scale) or mild / paucisymptomatic (SPRS =10) SPG11 disease.
Outcomes of severe pre- / peri-natal suffering.
Sensitivity or intolerance to miglustat.
Participation in other pharmacological studies within 30 days of the first visit of this study (T0).
Inability to take the study drug due to severe swallowing problems or the presence of percutaneous endoscopic gastrostomy access.
Other medical conditions that may interfere with the study results or the safety of the participants.
Intractable diarrhea in the 3 months prior to enrollment.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Main Objective: Evaluate the tolerability and safety of miglustat administration in a group of 10 subjects with moderate form of SPG11;Secondary Objective: Quantize the glycosphingolipids and GM2 gangliosides in patient serum over the course of the study.<br>Evaluate changes in disease progression and severity (± 20% changes in clinical SPRS scores) during treatment with miglustat.;Primary end point(s): Percentage of subjects reporting serious / significant adverse reactions or changes in blood or neurophysiological parameters greater than ± 20% (or both) during the study assessed at the two follow-up visits at 12 weeks (T1) and 24 weeks (T2 ) from the start of the study with respect to the enrollment visit (T0);Timepoint(s) of evaluation of this end point: From the first day of drug administration (day after the enrollment visit) to the completion visit (T2, 24 weeks from enrollment).
- Secondary Outcome Measures
Name Time Method Secondary end point(s): Greater than ± 20% variations in plasma GM2 glycosphingolipid and ganglioside levels (expressed as percentages of the total pool of identified glycosphingolipids (e.g.% total profile, mean ± SD) (Fan et al., 2013) measured at T1 and T2 compared to measurement performed during the enrollment visit (T0).; Score changes greater than ± 20% in the scores of the clinical disease scales and questionnaires at T1 and T2 compared to the scores obtained at the enrollment visit (T0).;Timepoint(s) of evaluation of this end point: From the enrollment visit to the completion visit (T2, 24 weeks from enrollment).; From the enrollment visit to the completion visit (T2, 24 weeks from enrollment).