NCT04808297

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
8

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Aug 2020

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 1, 2020

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

March 2, 2021

Completed
20 days until next milestone

First Posted

Study publicly available on registry

March 22, 2021

Completed
3 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2021

Completed
3 months until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2021

Completed
Last Updated

April 11, 2022

Status Verified

April 1, 2022

Enrollment Period

11 months

First QC Date

March 2, 2021

Last Update Submit

April 1, 2022

Conditions

Neuronal Ceroid-Lipofuscinoses

Keywords

Juvenile Neuronal Ceroid-LipofuscinosesUnified Batten Disease Rating Scale

Outcome Measures

Primary Outcomes (1)

  • 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 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

    month 0, month 12, month 24

Eligibility Criteria

Age7 Years - 45 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodProbability Sample
Study Population

Subjects in regular clinical practice affected by CLN3 o CLN6 diagnose by genetic tests

You may qualify if:

  • NCL genetic diagnosis (mutation in genes CLN3 or CLN6)
  • Signed informed consent

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

IRCCS Fondazione Stella Maris

Pisa, PI, 56128, Italy

Location

Related 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.

    PMID: 30092616BACKGROUND

  • 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.

    PMID: 29907758BACKGROUND

  • 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.

    PMID: 28165011BACKGROUND

  • 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.

    PMID: 27299292BACKGROUND

  • 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.

    PMID: 29688815BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood samples

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders

Study Record Dates

First Submitted

March 2, 2021

First Posted

March 22, 2021

Study Start

August 1, 2020

Primary Completion

July 1, 2021

Study Completion

October 1, 2021

Last Updated

April 11, 2022

Record last verified: 2022-04

Data Sharing

IPD Sharing
Will not share

Locations

IT(1)