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

IRCCS Fondazione Stella Maris

Status: Completed

Conditions: Neuronal Ceroid-Lipofuscinoses

Study type: Observational

Funder types: Other

Identifiers

NCT04808297

3AL-CLN36

Details and patient eligibility

About

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.

Full description

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

Enrollment: 8 patients

Sex: All

Ages: 7 to 45 years old

Volunteers: No Healthy Volunteers

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