Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses

Completed

• Conditions: Neuronal Ceroid-Lipofuscinoses

• Registration Number: NCT04808297
• Lead Sponsor: IRCCS Fondazione Stella Maris

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.

Detailed Description

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

Study Timeline

• Study Start: 2020-08-01
• Study First Submitted: 2021-03-02
• Study First Submitted QC: 2021-03-18
• Study First Posted: 2021-03-22
• Primary Completion: 2021-07-01
• Study Completion: 2021-10-01
• Status Verified: 2022-04
• Last Update Submitted: 2022-04-01
• Last Update Posted: 2022-04-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 8

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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	month 0, month 12, month 24	Blood samples

Secondary Outcome Measures

Name	Time	Method
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	month 0, month 12, month 24	Blood samples

Trial Locations

Locations (1)

IRCCS Fondazione Stella Maris; 🇮🇹 Pisa, PI, Italy