Clinical trial NCT04808297: Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
Official title: A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neuronal Ceroid-Lipofuscinoses
Keywords: Juvenile Neuronal Ceroid-Lipofuscinoses
Unified Batten Disease Rating Scale
Lead sponsor: IRCCS Fondazione Stella Maris
Sponsor class: OTHER
First posted: 2021-03-22
Enrollment: 8
Sex: ALL
Minimum age (years): 7
Maximum age (years): 45
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Subjects in regular clinical practice affected by CLN3 o CLN6 diagnose by genetic tests

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.

Eligibility criteria: 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

Primary outcomes:
measure: 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
timeFrame: month 0, month 12, month 24
Secondary outcomes:
measure: 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
timeFrame: month 0, month 12, month 24
Other outcomes:
Locations:
city: Pisa
country: Italy
facility: IRCCS Fondazione Stella Maris
state: PI
Study officials:
References:
citation: Bajaj L, Lotfi P, Pal R, Ronza AD, Sharma J, Sardiello M. Lysosome biogenesis in health and disease. J Neurochem. 2019 Mar;148(5):573-589. doi: 10.1111/jnc.14564. Epub 2018 Oct 18.
citation: Lee HJ, Yoon YS, Lee SJ. Mechanism of neuroprotection by trehalose: controversy surrounding autophagy induction. Cell Death Dis. 2018 Jun 15;9(7):712. doi: 10.1038/s41419-018-0749-9.
citation: Palmieri M, Pal R, Nelvagal HR, Lotfi P, Stinnett GR, Seymour ML, Chaudhury A, Bajaj L, Bondar VV, Bremner L, Saleem U, Tse DY, Sanagasetti D, Wu SM, Neilson JR, Pereira FA, Pautler RG, Rodney GG, Cooper JD, Sardiello M. mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nat Commun. 2017 Feb 6;8:14338. doi: 10.1038/ncomms14338.
citation: Sardiello M. Transcription factor EB: from master coordinator of lysosomal pathways to candidate therapeutic target in degenerative storage diseases. Ann N Y Acad Sci. 2016 May;1371(1):3-14. doi: 10.1111/nyas.13131.
citation: Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.