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Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses (3AL-CLN36)

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.
 
ClinicalTrials.gov Identifier: NCT04808297
Recruitment Status : Recruiting
First Posted : March 22, 2021
Last Update Posted : May 19, 2021
Sponsor:
Information provided by (Responsible Party):
Filippo Maria Santorelli, IRCCS Fondazione Stella Maris

Study Description
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Brief Summary:

Neuronal Ceroid Lipofuscinoses (NCL) or Batten's disease are the most common juvenile neurodegenerative disease, characterized by early blindness, movement disorders, cognitive and behavioral impairment, epilepsy, and retinopathy.

This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.


Condition or disease
Neuronal Ceroid-Lipofuscinoses

Study Design
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Study Type : Observational
Estimated Enrollment : 8 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose
Actual Study Start Date : August 1, 2020
Estimated Primary Completion Date : July 1, 2021
Estimated Study Completion Date : August 1, 2021

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Change from Baseline clinical status assessed using Annex VII of the Unified Batten Disease Rating Scale (UBDRS) (score 0-5 where 5 is the worst outcome) at 12 and 24 months [ Time Frame: month 0, month 12, month 24 ]
    Blood samples


Secondary Outcome Measures :
  1. Change from Baseline using Annex VII of Unified Batten Disease Rating Scale (UBDRS) (score 0-5 where 5 is the worst outcome) at 12 and 24 months [ Time Frame: month 0, month 12, month 24 ]
    Blood samples


Biospecimen Retention:   Samples Without DNA
Blood samples

Eligibility Criteria
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Ages Eligible for Study:   7 Years to 45 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Subjects in regular clinical practice affected by CLN3 o CLN6 diagnose by genetic tests
Criteria

Inclusion Criteria:

  • NCL genetic diagnosis (mutation in genes CLN3 or CLN6)
  • Signed informed consent

Exclusion Criteria:

  • Other concomitant neurodegenerative diseases.
  • Therapeutic and eating changes in the last four months prior to the study
  • Unstable clinical conditions (myoclonus worsening, instability in sleep, parenteral nutrition)
  • Refusal to sign the informed consent
Contacts and Locations
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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 ClinicalTrials.gov identifier (NCT number): NCT04808297


Contacts
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Contact: Filippo M Santorelli, MD PhD +39050886231 filippo3364@gmail.com

Locations
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Italy
IRCCS Fondazione Stella Maris Recruiting
Pisa, PI, Italy, 56128
Contact: Lucrecia A Mota, D.M.L    0039050992140    lucreciaantonia.mota@fsm.unipi.it   
Sub-Investigator: Ivana Ricca, MD         
Sponsors and Collaborators
IRCCS Fondazione Stella Maris
More Information
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Publications:

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Responsible Party: Filippo Maria Santorelli, Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders, IRCCS Fondazione Stella Maris
ClinicalTrials.gov Identifier: NCT04808297    
Other Study ID Numbers: 3AL-CLN36
First Posted: March 22, 2021    Key Record Dates
Last Update Posted: May 19, 2021
Last Verified: May 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
Keywords provided by Filippo Maria Santorelli, IRCCS Fondazione Stella Maris:
Juvenile Neuronal Ceroid-Lipofuscinoses
Unified Batten Disease Rating Scale
Additional relevant MeSH terms:
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Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
 Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases