- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04808297
Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses (3AL-CLN36)
April 1, 2022 updated by: Filippo Maria Santorelli, IRCCS Fondazione Stella Maris
A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose
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.
Study Overview
Status
Completed
Conditions
Detailed Description
This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.
Study Type
Observational
Enrollment (Actual)
8
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
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PI
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Pisa, PI, Italy, 56128
- IRCCS Fondazione Stella Maris
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
7 years to 45 years (Child, Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Sampling Method
Probability Sample
Study Population
Subjects in regular clinical practice affected by CLN3 o CLN6 diagnose by genetic tests
Description
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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
Time Frame: month 0, month 12, month 24
|
Blood samples
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month 0, month 12, month 24
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
Time Frame: month 0, month 12, month 24
|
Blood samples
|
month 0, month 12, month 24
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- 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.
- 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.
- 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.
- 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.
- 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.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
August 1, 2020
Primary Completion (Actual)
July 1, 2021
Study Completion (Actual)
October 1, 2021
Study Registration Dates
First Submitted
March 2, 2021
First Submitted That Met QC Criteria
March 18, 2021
First Posted (Actual)
March 22, 2021
Study Record Updates
Last Update Posted (Actual)
April 11, 2022
Last Update Submitted That Met QC Criteria
April 1, 2022
Last Verified
April 1, 2022
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 3AL-CLN36
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
No
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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