更新于：2024-11-01

Ceroid Lipofuscinosis, Neuronal, 7

神经元蜡样脂褐质沉积症7

更新于：2024-11-01

基本信息

别名

CEROID LIPOFUSCINOSIS, NEURONAL, 7、CLN7、CLN7 disease

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简介-

关联

项与神经元蜡样脂褐质沉积症7 相关的药物

AAV9/CLN7(University of Texas Southwestern Medical Center)

靶点-

作用机制

基因转移

在研机构

The University of Texas Southwestern Medical Center

原研机构

The University of Texas Southwestern Medical Center

在研适应症

神经元蜡样脂褐质沉积症7

非在研适应症-

最高研发阶段临床1期

首次获批国家/地区-

首次获批日期1800-01-20

项与神经元蜡样脂褐质沉积症7 相关的临床试验

NCT04737460 / Active, not recruiting临床1期IIT

Phase 1 Intrathecal Lumbar Administration of AAV9/CLN7 for Treatment of CLN7 Disease

This is a phase 1 open-label, single-administration of gene therapy agent AAV9/CLN7, administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN7 Batten disease.
This study consists of a one-time injection of AAV9/CLN7. There are two Cohorts with a low dose and a high dose.
The primary objective for this clinical study is to evaluate safety. The secondary objective is to determine the efficacy of AAV9/CLN7.
The secondary outcome measures include motor, cognition and intelligence assessments.
The exploratory outcome measures include visual impairment assessment, cognitive evaluations, Brain magnetic resonance imaging (MRI), electroencephalogram (EEG), electrocardiogram (ECG) and echocardiogram (ECHO).

开始日期2021-05-04

申办/合作机构

The University of Texas Southwestern Medical Center

NCT04613089 / RecruitingN/AIIT

Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database

This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database.
Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior.
A local biorepository of samples from genetically defined NCL patients will be established as well as a virtual biorepository within the DEM-CHILD DB to be able to easily localize international availability of patient samples.

开始日期2020-04-08

申办/合作机构

Universitätsklinikum Hamburg-Eppendorf

NCT01873924 / RecruitingN/AIIT

Clinical and Neuropsychological Investigations in Batten Disease

This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.

开始日期2004-08-01

申办/合作机构

University of Rochester

100 项与神经元蜡样脂褐质沉积症7 相关的临床结果

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100 项与神经元蜡样脂褐质沉积症7 相关的转化医学

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0 项与神经元蜡样脂褐质沉积症7 相关的专利（医药）

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项与神经元蜡样脂褐质沉积症7 相关的文献（医药）

2024-08-01·Molecular Genetics & Genomic Medicine

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Article

作者: Sheth, Jayesh ; Kjellström, Ulrika ; Dobloug, Sigurd ; Puschmann, Andreas ; Mole, Sara E. ; Anderson, Glenn ; Gardner, Emily

AbstractBackgroundBiallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to isolated adult‐onset retinal dystrophy. Classic late‐infantile CLN7 disease is a severe, rare neurological disorder with an age of onset typically between 2 and 6 years, presenting with seizures and/or cognitive regression. Its clinical course is progressive, leading to premature death, and often includes visual loss due to severe retinal dystrophy. In rare cases, pathogenic variants in MFSD8 can be associated with isolated non‐syndromic macular dystrophy with variable age at onset, in which the disease process predominantly or exclusively affects the cones of the macula and where there are no neurological or neuropsychiatric manifestations.MethodsHere we present longitudinal studies on four adult‐onset patients who were biallelic for four MFSD8 variants.ResultsTwo unrelated patients who presented with adult‐onset ataxia and had macular dystrophy on examination were homozygous for a novel variant in MFSD8 NM_152778.4: c.935T>C p.(Ile312Thr). Two other patients presented in adulthood with visual symptoms, and one of these developed mild to moderate cerebellar ataxia years after the onset of visual symptoms.ConclusionsOur observations expand the knowledge on biallelic pathogenic MFSD8 variants and confirm that these are associated with a spectrum of more heterogeneous clinical phenotypes. In MFSD8‐related disease, adult‐onset recessive ataxia can be the presenting manifestation or may occur in combination with retinal dystrophy.

2024-03-25·Cureus

Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7)

作者: Pérez-Segovia, Aarón H ; Mayoral-Carrasco, Luis E ; García-Rueda, Andrea G ; Rivero-García, Pamela ; Kimball, Tamara N

Neuronal ceroid lipofuscinosis type 7 (NCL7) is a rare form of childhood dementia; it is part of a group of diseases characterized by rapid progressive cognitive decline, blindness associated with retinitis pigmentosa, and seizures. We report the clinical and molecular characteristics of the first Mexican patient with NCL7, highlighting a particularly atypical disease course. The typical presentation form is expected to have reduced life expectancy and an average age of ambulation loss at 12 years. Our 27-year-old patient retains the ability to walk. The patient's unique presentation could, in part, be attributed to her genetic profile: a hypomorphic allele carrying a missense variant (c.1390G>A) and an almost null allele with a frameshift variant (c.1086del), contributing to the preservation of some protein function. Throughout her childhood and early adulthood, our patient experienced a variable response to antiseizure drugs, attributed to a lack of recognition of the disease and the specific efficacy of certain antiseizure medications. Our findings underscore the significance of considering this genetic condition and acknowledging its clinical heterogeneity.

2024-01-01·Therapeutic Advances in Rare Disease

Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics

Review

作者: van Roon-Mom, Willeke ; Lauffer, Marlen C. ; Collin, Rob W.J. ; Aartsma-Rus, Annemieke ; Elgersma, Ype

Antisense oligonucleotides (ASOs) offer versatile tools to modify the processing and expression levels of gene transcripts. As such, they have a high therapeutic potential for rare genetic diseases, where applicability of each ASO ranges from thousands of patients worldwide to single individuals based on the prevalence of the causative pathogenic variant. It was shown that development of individualized ASOs was feasible within an academic setting, starting with Milasen for the treatment of a patient with CLN7 Batten’s disease in the USA. Inspired by this, the Dutch Center for RNA Therapeutics (DCRT) was established by three academic medical centers in the Netherlands with a track record in ASO development for progressive, genetic neurodegenerative, neurodevelopmental, and retinal disorders. The goal of the DCRT is to bundle expertise and address national ethical, regulatory, and financial issues related to ASO treatment, and ultimately to develop individualized ASOs for eligible patients with genetic diseases affecting the central nervous system in an academic, not-for-profit setting. In this perspective, we describe the establishment of the DCRT in 2020 and the achievements so far, with a specific focus on lessons learned: the need for processes and procedures, the need for global collaboration, the need to raise awareness, and the fact that N-of-1 is N-of-a-few.