Neuronal Ceroid-Lipofuscinoses
Conditions
Keywords
Juvenile Neuronal Ceroid-Lipofuscinoses, Unified Batten Disease Rating Scale
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.
Interventions
None listed
Sponsors
IRCCS Fondazione Stella Maris
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
7 Years to 45 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
Italy
Outcome results
None listed