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.
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