A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease

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Estat

Patrocinadors

Neurogene Inc.

ASSAIG CLÍNIC: NCT03822650

BioSeek: nct03822650

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Resum

CLN7 and CLN5 are forms of Batten Disease, and neurodegenerative disorders in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and have no available treatments.

The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CLN7 and CLN5. This natural history study is important to better understand disease course to be able to determine clinically relevant outcome measures for use in future clinical trials.

Descripció

Neuronal Ceroid Lipofuscinosis (NCL) are comprised of a group of fatal neurodegenerative diseases caused by mutations in an enzyme or protein which results in the accumulation of toxic deposits in the eye, brain, skin, muscle and other cells.

CLN7 is a type of NCL caused by homozygous or bi-allelic heterozygous variants in CLN7/MFSD8 gene, whose function is poorly characterized. CLN7 presents with neurological signs, including blindness, seizures, progressive deterioration in intellectual and motor capabilities, culminating in premature death in the first or second decade of life.

CLN5 is another type of NCL, caused by homozygous or bi-allelic heterozygous variants in the CLN5 gene. Lack of CLN5 protein impairs the breakdown of certain proteins, leads to defective lysosomal trafficking, resulting in accumulation of toxic material and subsequent cell damage. CLN5 disease presents in childhood with neurological findings including motor clumsiness and attention disturbances, followed by progressive visual failure, psychomotor depression, epilepsy, and premature death.

No investigational product will be provided in the study.

Dates

Darrera verificació:	04/30/2020
Primer enviat:	01/26/2019
Inscripció estimada enviada:	01/27/2019
Publicat per primera vegada:	01/29/2019
Última actualització enviada:	05/26/2020
Publicació de l'última actualització:	05/28/2020
Data d'inici de l'estudi real:	03/12/2019
Data estimada de finalització primària:	05/31/2026
Data estimada de finalització de l’estudi:	11/30/2026

Condició o malaltia

Ceroid Lipofuscinosis, Neuronal 7

Ceroid Lipofuscinosis, Neuronal 5

Fase

Criteris d'elegibilitat

Sexes elegibles per estudiar	All
Mètode de mostreig	Non-Probability Sample
Accepta voluntaris saludables	Sí
Criteris	Inclusion Criteria: - Participants must have a diagnosis of CLN7 or CLN5 based on clinical presentation and genetic testing (known or suspected pathogenic mutation in CLN7/MFSD8 or CLN5 gene).

Resultat

Mesures de resultats primaris

1. Unified Batten Disease Rating Scale (UBDRS) [5 years]

Disease-specific clinical assessment used to assess physical, seizure, behavioral and functional capabilities. For physical assessments scores range from 0 to 4 with the score of 4 being most severe.

2. Late Infantile Neuronal Ceroid Lipofuscinosis Rating Scale (Hamburg Scale) [5 years]

Disease specific tool used to capture 4 domains including motor function, seizures, visual function and language. Each sub-scale can be scored from 0-3 points in which 0 represents loss of function.

Mesures de resultats secundaris

1. Electroencephalography (EEG) [5 years]

EEG records electrical brain activity and Interictal discharges (location, focal/generalized, etc) will be compared to baseline and characterized over time.

2. Vineland Adaptive Behavior Scale, 2rd or 3rd Edition (Vineland-II, Vineland-3) [5 years]

Standard assessment measuring communication, socializing, and daily living skills to assess their overall adaptive functioning for individuals up to 90 years of age. A higher score generally corresponds with higher adaptive function.

3. NEPSY, 2nd Edition (NEPSY-2) * [5 years]

Neuropsychological assessment to evaluate language skills for individuals 3-16 years of age.

4. Woodcock-Johnson-IV Tests of Cognitive Abilities (WJ-IV)* [5 years]

Evaluates strengths and weaknesses among cognitive abilities in subjects 2-90 years of age. A higher score generally corresponds with higher function.

5. Bayley Scales of Infant and Toddler Development Test, 3rd edition (Bayley-3) * [5 years]

Developmental test that measures cognitive, language, motor, and social-emotional domains of infants and young children between 1 and 42 months of age. A higher score generally corresponds with higher function.

A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease

Paraules clau

atròfia

malaltia neurodegenerativa

epilepsy

seizures

ceroid