Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses

IRCCS Fondazione Stella Maris8 enrolled

Overview

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.

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Neuronal Ceroid-Lipofuscinoses

Eligibility

Sex: ALLMin age: 7 YearsMax age: 45 Years

Medical Language ↔ Plain English

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

Locations (1)

IRCCS Fondazione Stella Maris

Pisa, PI, Italy

Outcomes

Primary Outcomes

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

Blood samples

Time frame: month 0, month 12, month 24

Secondary Outcomes

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

Blood samples

Time frame: month 0, month 12, month 24

Data from ClinicalTrials.gov

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