Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses Clinical Trial

— 3AL-CLN36  

Official title:

A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04808297
• Other study ID #: 3AL-CLN36
• Status: Completed
• Start date: August 1, 2020
• Est. completion date: October 1, 2021

Study information

• Verified date: April 2022
• Source: IRCCS Fondazione Stella Maris
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 8
• Est. completion date: October 1, 2021
• Est. primary completion date: July 1, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 7 Years to 45 Years

Eligibility

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

Related Conditions & MeSH terms

• Neuronal Ceroid-Lipofuscinoses

Locations

Country	Name	City	State
Italy	IRCCS Fondazione Stella Maris	Pisa	PI

Sponsors (1)

Lead Sponsor	Collaborator
IRCCS Fondazione Stella Maris

Country where clinical trial is conducted

Italy, 

References & Publications (5)

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. Review. — View 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. Review. — View 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. Erratum in: Nat Commun. 2017 Jun 13;8:15793. — View 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. Review. — View Citation

Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschütter 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Blood samples	month 0, month 12, month 24
Secondary	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	Blood samples	month 0, month 12, month 24