Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)

Hereditary Spastic Paraplegia Clinical Trial

— 3AL-SPG11  

Official title:

An Observational Study in Subjects With Spastic Paraplegia Type 11 Taking Trehalose

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04912609
• Other study ID #: 3AL-SPG11
• Status: Completed
• Start date: June 30, 2021
• Est. completion date: July 30, 2022

Study information

• Verified date: August 2022
• Source: IRCCS Fondazione Stella Maris
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 13
• Est. completion date: July 30, 2022
• Est. primary completion date: April 30, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 10 Years and older

Eligibility

Inclusion Criteria:

• Confirmed diagnosis of SPG11

• Written signed informed consent

Exclusion Criteria:

• 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

Related Conditions & MeSH terms

• Hereditary Spastic Paraplegia
• Muscle Spasticity
• Paraplegia
• Spastic Paraplegia, Hereditary

Locations

Country	Name	City	State
Italy	IRCCS Fondazione Stella Maris	Pisa	PI

Sponsors (1)

Lead Sponsor	Collaborator
IRCCS Fondazione Stella Maris

Country where clinical trial is conducted

Italy, 

References & Publications (5)

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. — View Citation

Branchu 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. — View Citation

Chang 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. — View Citation

Davies 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. Epub 2005 Nov 25. — View Citation

de 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. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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%	At baseline, month 6, month 12
Secondary	Changes in glycosphingolipids and gangliosides plasmatic levels	Assess changes in glycosphingolipids and gangliosides plasmatic levels over ± 10%	At baseline, month 6, month 12