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

April 1, 2022 updated by: Filippo Maria Santorelli, IRCCS Fondazione Stella Maris

A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose

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.

Study Overview

Status

Completed

Detailed Description

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

Study Type

Observational

Enrollment (Actual)

8

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • PI
      • Pisa, PI, Italy, 56128
        • IRCCS Fondazione Stella Maris

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

7 years to 45 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Subjects in regular clinical practice affected by CLN3 o CLN6 diagnose by genetic tests

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
month 0, month 12, month 24

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
month 0, month 12, month 24

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 1, 2020

Primary Completion (Actual)

July 1, 2021

Study Completion (Actual)

October 1, 2021

Study Registration Dates

First Submitted

March 2, 2021

First Submitted That Met QC Criteria

March 18, 2021

First Posted (Actual)

March 22, 2021

Study Record Updates

Last Update Posted (Actual)

April 11, 2022

Last Update Submitted That Met QC Criteria

April 1, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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