A5000441269- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Calcium signaling and nucleotide metabolism
- Cellular transport and secretion
- Adenosine and Purinergic Signaling
- Cerebrospinal fluid and hydrocephalus
- Autoimmune and Inflammatory Disorders Research
- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Carbohydrate Chemistry and Synthesis
- Coenzyme Q10 studies and effects
- Logic, programming, and type systems
- Renal Diseases and Glomerulopathies
- Trypanosoma species research and implications
- Cystic Fibrosis Research Advances
- Family and Disability Support Research
- Glycosylation and Glycoproteins Research
- Ginkgo biloba and Cashew Applications
- Salivary Gland Tumors Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Autoimmune Neurological Disorders and Treatments
- Pancreatitis Pathology and Treatment
- Logic, Reasoning, and Knowledge
Universität Hamburg
2017-2024
University Medical Center Hamburg-Eppendorf
2017-2024
Klinik und Poliklinik für Kinder- und Jugendmedizin
2024
Eppendorf (Germany)
2017
For decades, intracerebroventricular (ICV), or intraventricular, devices have been used in the treatment of a broad range pediatric and adult central nervous system (CNS) disorders. Due to limited permeability blood brain barrier, diseases with CNS involvement may require direct administration drugs into achieve full therapeutic effect. A recent comprehensive literature review on clinical use complications ICV drug delivery revealed that device-associated complication rates are variable, be...
This study assessed the real-world effectiveness and safety of enzyme replacement therapy (ERT), cerliponase alfa, to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Data from DEM-CHILD database were analyzed, comparing patients who initiated ERT outside clinical trials with natural history (NH) controls. Treated matched 1:1 NH controls on baseline age combined motor-language (ML) score CLN2 rating scale. Rate ML decline, time unreversed 2-point decline or 0, 0 assessed. Safety...
Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative, blinding lysosomal storage disorder. The purpose of the current study was to characterise progression CLN2-associated retinal degeneration in patients under intraventricular enzyme replacement therapy (ERT) with cerliponase alfa.We analysed visual function, morphology and neuropaediatric data using preferential looking test (PLT), Weill Cornell Batten Scale (WCBS), optical coherence tomography (OCT) imaging...
Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment neuronal ceroid lipofuscinosis (NCL) diseases. It is where a recombinant lysosomal enzyme, cerliponase alfa, administered into lateral cerebral ventricles to reach central nervous system, organ affected in disease. If untreated, children show symptoms such as epilepsy and language developmental delay at 2-4 years followed by rapid loss of motor function, vision loss, early...
The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, rapid psychomotor decline. Atypical phenotypes exhibit variable time onset, symptomatology, and/or progression. Intracerebroventricular-administered cerliponase alfa (rhTPP1 enzyme) has been shown to stabilize motor function loss in patients disease, but its impact on individuals...
Abstract Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due cognitive burden direct elicitation methods, and the limited size patient/caregiver populations. CLN2 disease (neuronal ceroid lipofuscinosis type 2) an ultra-rare, progressive condition, which there are no published data fully capturing all stages. This case...
Background: Therapy induced longer life expectancy leads to an increased number of co-morbidities in neurodegenerative diseases. A cardiac impairment is known neuronal ceroid lipofuscinoses (NCLs) but there limited data about the onset and clinical relevance. The positive effect intraventricular enzyme replacement therapy (ICV-ERT) on CNS degeneration proven. Data impact function still missing. purpose this ongoing longitudinal prospective study analyze pediatric patients with CLN2 disease...
Background/Purpose: CLN2 disease is a rare neurodegenerative disorder caused by deficient TPP1 enzyme activity. Cerliponase alfa (recombinant hTPP1) currently the only disease-modifying therapy approved for treatment of disease. In this retrospective, observational analysis data collected in DEM-CHILD registry, we evaluated incidence and severity seizures movement disorders patients with treated cerliponase alfa.
Background/Purpose: Intraventricular enzyme replacement therapy (ICV-ERT) with Cerliponase alfa has shown positive effects on CNS degeneration in CLN2 disease. However, the impact of itself and prolonged life expectancy cardiac function remains unclear. Despite NCLs are neurodegenerative diseases, affected patients show an increasing amount co-morbidities. The purpose this ongoing longitudinal prospective study is to analyze pediatric receiving alfa.
To investigate the presence of peripapillary retinal nerve fiber layer (pRNFL) degeneration in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to evaluate role optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 progression.
Background/Purpose: Neuronal ceroid-lipofuscinosis type 1 (CLN1) disease is caused by deficiency of the lysosomal enzyme palmitoyl-protein thioesterase (PPT1). The classic infantile phenotype in CLN1 represents most rapidly progressive form among all NCL phenotypes.
Introduction: Neuronal ceroidlipofuscinoses (NCLs) are lysosomal storage diseases with progressive neuronal degeneration. Symptom onset and combination of symptoms can vary respect to different NCL forms. Mostly, first develop in early childhood or at school age. All forms have common decline motor, language, cognitive visual skills the occurence seizures. Usually patients die adulthood. Cannabidiol (CBD) is currently used for indications like therapy-resistant epilepsy. The question often...
Abstract Purpose Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data patients confirmed genetic mutation non-classical disease course, marked by later onset, protracted progression prolonged life span. Methods Prospective, observational assess visual acuity, retinal features (Weil Cornell Ophthalmic Score), central thickness (CRT) measured optical coherence tomography...
Abstract The 12 years old male patient presented here suffers from neuronal ceroid lipofuscinoses 2 (CLN2) (MIM# 204500) and receives intracerebroventricular enzyme replacement therapy (ICV-ERT) every 14 days. After the emergence of coronavirus disease 2019 (COVID-19) pandemic, routine care children adolescents with rare chronic diseases has become challenging. Although, in general, do not develop severe COVID-19, when acute respiratory syndrome infection was detected by polymerase chain...
Background: The intracerebroventricular (ICV) route of administration has been used for many decades to treat pediatric and adult patients with a broad range central nervous system (CNS) disorders. There is no consensus in management ICV devices associated rates reported complications are highly variable. A systematic literature review revealed that noninfectious complication per patient from 1 33%, while infectious 0 27%.