Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses

NCT ID: NCT04808297

Last Updated: 2022-04-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

8 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-08-01

Study Completion Date

2021-10-01

Brief Summary

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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

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

Conditions

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Neuronal Ceroid-Lipofuscinoses

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

7 Years

Maximum Eligible Age

45 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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IRCCS Fondazione Stella Maris

OTHER

Sponsor Role lead

Responsible Party

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Filippo Maria Santorelli

Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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IRCCS Fondazione Stella Maris

Pisa, PI, Italy

Site Status

Countries

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Italy

References

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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.

Reference Type BACKGROUND
PMID: 30092616 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 29907758 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 28165011 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 27299292 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 29688815 (View on PubMed)

Other Identifiers

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3AL-CLN36

Identifier Type: -

Identifier Source: org_study_id

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