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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04912609
Recruitment Status : Not yet recruiting
First Posted : June 3, 2021
Last Update Posted : June 8, 2021
Information provided by (Responsible Party):
Filippo Maria Santorelli, IRCCS Fondazione Stella Maris

Brief Summary:
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.

Condition or disease
Hereditary Spastic Paraplegia Spastic Paraplegia Type 11

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.

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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: An Observational Study in Subjects With Spastic Paraplegia Type 11 Taking Trehalose
Estimated Study Start Date : May 30, 2021
Estimated Primary Completion Date : April 30, 2022
Estimated Study Completion Date : June 30, 2022

Primary Outcome Measures :
  1. 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%

Secondary Outcome Measures :
  1. Changes in glycosphingolipids and gangliosides plasmatic levels [ Time Frame: At baseline, month 6, month 12 ]
    Assess changes in glycosphingolipids and gangliosides plasmatic levels over ± 10%

Information from the National Library of Medicine

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Ages Eligible for Study:   10 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects will be enrolled in our centre (IRCCS Fondazione Stella Maris) as part of the primary care during regular visits.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04912609

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Contact: Filippo M Santorelli, MD PhD 0039050886231
Contact: Lucrecia A Mota, D.M.L +39050992140

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IRCCS Fondazione Stella Maris
Pisa, PI, Italy, 56128
Sponsors and Collaborators
IRCCS Fondazione Stella Maris
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Principal Investigator: Filippo M Santorelli, MD PhD Filippo Santorelli-Lab Med Molecolare
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Responsible Party: Filippo Maria Santorelli, Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders, IRCCS Fondazione Stella Maris Identifier: NCT04912609    
Other Study ID Numbers: 3AL-SPG11
First Posted: June 3, 2021    Key Record Dates
Last Update Posted: June 8, 2021
Last Verified: June 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscle Spasticity
Spastic Paraplegia, Hereditary
Muscular Diseases
Musculoskeletal Diseases
Muscle Hypertonia
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Congenital Abnormalities
Genetic Diseases, Inborn