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Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

Frontiers in neurology, 2022-02, Vol.13, p.785841-785841

2022

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Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.217-217, Article 217

2021

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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.185-185, Article 185

2021

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Natural history of CLN7 disease: Quantitative prospective assessment of disease characteristics and rate of progression

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S109-S109

2022

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Neurodegenerative Erkrankungen des Kindesalters

Medizinische Genetik, 2018-06, Vol.30 (2), p.231-237

2018

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An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Journal of inborn errors of metabolism and screening, 2018, Vol.6, p.232640981878838

2018

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Brain iron quantification by MRI in mitochondrial membrane protein‐associated neurodegeneration under iron‐chelating therapy

Annals of clinical and translational neurology, 2014-12, Vol.1 (12), p.1041-1046

2014

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Development of the “Hamburg best practice guidelines for ICV-enzyme replacement therapy (ERT) in CLN2 disease” based on 5 years treatment experience in 48 patients

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S146-S146

2020

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First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

Neuro-degenerative diseases, 2020-10, Vol.20 (1), p.35-38

2020

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Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

British journal of ophthalmology, 2023-10, Vol.107 (10), p.1478-1483

2023

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Hamburg iNCL scale: A new tool for the quantitative description of disease progression in infantile CLN1 patients

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S88-S89

2022

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Real-world clinical outcomes of intraventricular cerliponase alfa in CLN2 disease: 4.5-year update from an independent ongoing observational study

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S109-S109

2022

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The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

European journal of paediatric neurology, 2022-05, Vol.38, p.62-65

2022

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The relationship between the expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor function (CLN2 CRS-MX) and GAITRite® parameters

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107135, Article 107135

2023

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Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?

Neuropediatrics, 2023-12, Vol.54 (6), p.402-406

2023

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Visual perception and macular integrity in non-classical CLN2 disease

Graefe's archive for clinical and experimental ophthalmology, 2022-11, Vol.260 (11), p.3693-3700

2022

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An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease

American journal of ophthalmology, 2020-12, Vol.220, p.64-71

2020

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The expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor and language function: Development and inter-rater reliability

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S97-S97

2022

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Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

Neuropediatrics, 2016-06, Vol.47 (3), p.194-196

2016

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Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

Lancet neurology, 2024-01, Vol.23 (1), p.60-70

2024

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Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

Clinica chimica acta, 2019-05, Vol.492, p.69-71

2019

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Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Journal of child neurology, 2021-07, Vol.36 (8), p.635-641

2021

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Twelve-year experience with a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S96-S96

2019

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Current understanding of language development in late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S116-S116

2020

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Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

Management strategies for CLN2 disease

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Natural history of CLN7 disease: Quantitative prospective assessment of disease characteristics and rate of progression

Neurodegenerative Erkrankungen des Kindesalters

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Brain iron quantification by MRI in mitochondrial membrane protein‐associated neurodegeneration under iron‐chelating therapy

Development of the “Hamburg best practice guidelines for ICV-enzyme replacement therapy (ERT) in CLN2 disease” based on 5 years treatment experience in 48 patients

First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Hamburg iNCL scale: A new tool for the quantitative description of disease progression in infantile CLN1 patients

Real-world clinical outcomes of intraventricular cerliponase alfa in CLN2 disease: 4.5-year update from an independent ongoing observational study

The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

The relationship between the expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor function (CLN2 CRS-MX) and GAITRite® parameters

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?

Visual perception and macular integrity in non-classical CLN2 disease

An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease

The expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor and language function: Development and inter-rater reliability

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Twelve-year experience with a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

Current understanding of language development in late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

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