Trials Sponsors Conditions Drugs Pricing

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)

Sponsors & Collaborators

IRCCS Fondazione Stella Maris
Otherlead

Study Sites (1)

IRCCS Fondazione Stella Maris

Pisa, PI, 56128, Italy

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.

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

Enrollment

8 participants (actual enrollment reported by the registry).

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

Actual (reported)

Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (5)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (5)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations