Hereditary Spastic Paraplegia3AL-SPG11NCT04912609
Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
An observational study of Hereditary Spastic Paraplegia and Spastic Paraplegia Type 11, run by IRCCS Fondazione Stella Maris at 1 site in Italy.
Trial summary
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Hereditary Spastic Paraplegia, Spastic Paraplegia Type 11
- How many people
- 13 participants
- Where
- 1 siteItaly
- Study dates
- 30 Jun 2021to 30 Jul 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects will be enrolled in our centre (IRCCS Fondazione Stella Maris) as part of the primary care during regular visits.
Who may be able to join
- Confirmed diagnosis of SPG11
- Written signed informed consent
Who cannot join
- Diagnosis of other concomitant neurodegenerative diseases
- taking other experimental drugs within 30 days of the first Study visit (T0) and during the study
- Refusal to sign informed consent
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Observational Study in Subjects With Spastic Paraplegia Type 11 Taking Trehalose
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
Read the detailed description
Several experiments on subjects affected by neurodegenerative diseases with dysfunction of the autophagic-lysosomal system show that trehalose improves the pathological phenotype. This evidence indicates that trehalose could be used in patients with SPG11 to try to prevent the accumulation of glycosphingolipids at the lysosomal level and induce the genesis of new lysosomes. This study aims to record clinical data of 20 patients with SPG11 who take trehalose during 12 months.
- Medical subject headings
- Spastic Paraplegia, Hereditary, Spastic paraplegia 11, autosomal recessive
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes from baseline in Spastic Paraplegia Rating Scale (SPRS) at 6 and 12 months
Assess changes in score of the Spastic Paraplegia Rating Scale (SPRS) over ± 10%
Measured: At baseline, month 6, month 12
Secondary outcomes (1)
Changes in glycosphingolipids and gangliosides plasmatic levels
Assess changes in glycosphingolipids and gangliosides plasmatic levels over ± 10%
Measured: At baseline, month 6, month 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jun 2021
- Study start30 Jun 2021
- Primary completion30 Apr 2022
- Study completion30 Jul 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Hereditary Spastic ParaplegiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- IRCCS Fondazione Stella Maris
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Filippo Maria Santorelli, IRCCS Fondazione Stella Maris
- Investigators
- Filippo M Santorelli, MD PhD, Principal investigator, Filippo Santorelli-Lab Med Molecolare
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04912609
- Sponsor's protocol ID
- 3AL-SPG11
- Acronym
- 3AL-SPG11
- Status last verified
- Aug 2022
- First submitted
- 28 May 2021
- Last updated
- 3 Aug 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098.
PubMed 29949766Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, Darios F. Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22.
PubMed 28237315Chang J, Lee S, Blackstone C. Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation. J Clin Invest. 2014 Dec;124(12):5249-62. doi: 10.1172/JCI77598. Epub 2014 Nov 3.
PubMed 25365221de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB. Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks. Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z.
PubMed 27271711Davies JE, Sarkar S, Rubinsztein DC. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet. 2006 Jan 1;15(1):23-31. doi: 10.1093/hmg/ddi422. Epub 2005 Nov 25.
PubMed 16311254
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Study in Subjects With Spastic Paraplegia Type 11 Taking Trehalose
- ClinicalTrials.gov ID
- NCT04912609
- Acronym / sponsor ID
- 3AL-SPG11 / 3AL-SPG11
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- IRCCS Fondazione Stella MarisUniversity, hospital or other
- Study start
- 30 Jun 2021 (actual)
- Primary completion
- 30 Apr 2022 (actual)
- Study completion
- 30 Jul 2022 (actual)
- First posted
- 3 Jun 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
Detailed description
Several experiments on subjects affected by neurodegenerative diseases with dysfunction of the autophagic-lysosomal system show that trehalose improves the pathological phenotype. This evidence indicates that trehalose could be used in patients with SPG11 to try to prevent the accumulation of glycosphingolipids at the lysosomal level and induce the genesis of new lysosomes. This study aims to record clinical data of 20 patients with SPG11 who take trehalose during 12 months.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects will be enrolled in our centre (IRCCS Fondazione Stella Maris) as part of the primary care during regular visits.
Key inclusion criteria (2 listed)
- Confirmed diagnosis of SPG11
- Written signed informed consent
Key exclusion criteria (3 listed)
- Diagnosis of other concomitant neurodegenerative diseases
- taking other experimental drugs within 30 days of the first Study visit (T0) and during the study
- Refusal to sign informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Changes from baseline in Spastic Paraplegia Rating Scale (SPRS) at 6 and 12 months
Time frame: At baseline, month 6, month 12
Assess changes in score of the Spastic Paraplegia Rating Scale (SPRS) over ± 10%
1 secondary outcome
Changes in glycosphingolipids and gangliosides plasmatic levels
Time frame: At baseline, month 6, month 12
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Aug 2022.
- Background: PubMed 29949766Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098.
- Background: PubMed 28237315Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, Darios F. Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22.
- Background: PubMed 25365221Chang J, Lee S, Blackstone C. Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation. J Clin Invest. 2014 Dec;124(12):5249-62. doi: 10.1172/JCI77598. Epub 2014 Nov 3.
- Background: PubMed 27271711de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB. Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks. Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z.
- Background: PubMed 16311254Davies JE, Sarkar S, Rubinsztein DC. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet. 2006 Jan 1;15(1):23-31. doi: 10.1093/hmg/ddi422. Epub 2005 Nov 25.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Filippo M Santorelli, MD PhD principal investigator
Filippo Santorelli-Lab Med Molecolare
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Spastic Paraplegia and Spastic Paraplegia Type 11, run by IRCCS Fondazione Stella Maris at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Aug 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes from baseline in Spastic Paraplegia Rating Scale (SPRS) at 6 and 12 months (time frame: At baseline, month 6, month 12). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04912609, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Aug 2022.