Neuronal Ceroid-Lipofuscinoses3AL-CLN36NCT04808297
Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
An observational study of Neuronal Ceroid-Lipofuscinoses, run by IRCCS Fondazione Stella Maris at 1 site in Italy.
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. Read more about this study
- Who is it for?
- Ages 7 to 45 years
- Conditions the study is for
- Neuronal Ceroid-Lipofuscinoses
- How many people
- 8 participants
- Where
- 1 siteItaly
- Study dates
- 1 Aug 2020to 1 Oct 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 to 45 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Subjects in regular clinical practice affected by CLN3 o CLN6 diagnose by genetic tests
Who may be able to join
- NCL genetic diagnosis (mutation in genes CLN3 or CLN6)
- Signed informed consent
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the detailed description
This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.
- Conditions
- Neuronal Ceroid-Lipofuscinoses
- Keywords
- Juvenile Neuronal Ceroid-Lipofuscinoses, Unified Batten Disease Rating Scale
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: month 0, month 12, month 24
Secondary outcomes (1)
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
Measured: month 0, month 12, month 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2021
- Study start1 Aug 2020
- Primary completion1 Jul 2021
- Study completion1 Oct 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Neuronal Ceroid-LipofuscinosesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- IRCCS Fondazione Stella Maris
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Filippo Maria Santorelli, IRCCS Fondazione Stella Maris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04808297
- Sponsor's protocol ID
- 3AL-CLN36
- Acronym
- 3AL-CLN36
- Status last verified
- Apr 2022
- First submitted
- 2 Mar 2021
- Last updated
- 11 Apr 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 30092616Lee 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.
PubMed 29907758Palmieri 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.
PubMed 28165011Sardiello 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.
PubMed 27299292Schulz 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.
PubMed 29688815
Study at a glance
From the registry record, last updated by the sponsor on 11 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose
- ClinicalTrials.gov ID
- NCT04808297
- Acronym / sponsor ID
- 3AL-CLN36 / 3AL-CLN36
- Conditions
- Neuronal Ceroid-Lipofuscinoses
- Keywords
- Juvenile Neuronal Ceroid-Lipofuscinoses, Unified Batten Disease Rating Scale
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- IRCCS Fondazione Stella MarisUniversity, hospital or other
- Study start
- 1 Aug 2020 (actual)
- Primary completion
- 1 Jul 2021 (actual)
- Study completion
- 1 Oct 2021 (actual)
- First posted
- 22 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 7 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Subjects in regular clinical practice affected by CLN3 o CLN6 diagnose by genetic tests
Key inclusion criteria (2 listed)
- NCL genetic diagnosis (mutation in genes CLN3 or CLN6)
- Signed informed consent
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
1 secondary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Apr 2022.
- Background: PubMed 30092616Bajaj 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.
- Background: PubMed 29907758Lee 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.
- Background: PubMed 28165011Palmieri 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.
- Background: PubMed 27299292Sardiello 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.
- Background: PubMed 29688815Schulz 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuronal Ceroid-Lipofuscinoses, run by IRCCS Fondazione Stella Maris at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome 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 (time frame: month 0, month 12, month 24). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04808297, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Apr 2022.