Abstract:
:Patient registries offer a powerful and practical means of real-world data collection system for rare diseases. Many guidelines have been released to standardize patient registries, although most of them do not address issues specific to rare disease patient registries. In November 2018, the European Medicines Agency (EMA) released a draft discussion paper on methodological and operational aspects of disease registries and made proposals on good registry practice (henceforth referred to as EMA guidance). This guidance was highly anticipated by all stakeholders with a strong interest toward governance, operationalization, and study conduct in registries. With improved clarity toward conduct of patient registries, this guidance will encourage overall registry use in regulatory decision making. TuberOus SClerosis registry to increase disease Awareness (TOSCA) was an international, multicenter patient registry to assess the manifestations, interventions, and outcomes in patients with tuberous sclerosis complex (TSC). The planning of TOSCA was initiated in 2011, patient enrolment commenced in August 2012, and final analysis database was locked in August 2017, long before the EMA guidance was released. Moreover, initial publications of TOSCA, such as first interim analysis, had also been published before the release of the EMA guidance. Extensive feedback and lessons learned from the TOSCA registry have provided insights into rare disease registry planning and operations. In this paper, we tested the recommendations from the EMA guidance on a rare disease registry, that is, the TOSCA registry. We elaborated the compliance and deviations of the TOSCA registry from the EMA guidance on a point-by-point basis. A careful observation revealed that in most aspects, TOSCA was in compliance with EMA. However, there were several practical issues identified in TOSCA, which deviated from EMA guidance. These issues demonstrate that deviations from EMA guidance, particularly in rare disease registries, do not signify compromised registry quality and can be somewhat expected in small populations. Despite multiple deviations of TOSCA from the EMA guidance, TOSCA was able to meet its objectives to enhance our understanding of TSC and its manifestations.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Marques R,Thole H,Ruiz de Morales JGdoi
10.3389/fneur.2020.00365subject
Has Abstractpub_date
2020-05-15 00:00:00pages
365issn
1664-2295journal_volume
11pub_type
杂志文章,评审abstract::Background: In functional movement disorders, explicit movements are impaired, while implicit movements are preserved. Furthermore, there is evidence that the sense of agency is abnormal. Aim: We aimed to investigate how motor responses and sense of agency were affected by subliminal or supraliminal cues in people wit...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00989
更新日期:2020-09-11 00:00:00
abstract::Objective: As a recently defined disease entity, vestibular migraine (VM) is a variant of migraine with broad spectrum of manifestations. We evaluated a prospective cohort of patients with VM in two centers to assess severity of VM attacks and investigate its contributing factors in patients with VM. Methods: Adult pa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.595328
更新日期:2020-12-16 00:00:00
abstract::Background: In people with multiple sclerosis (MS), optic neuritis (ON) results in inner retinal layer thinning, and reduced density of the retinal microvasculature. Objective: To compare inter-eye differences (IEDs) in macular optical coherence tomography (OCT) and OCT angiography (OCTA) measures in MS patients with ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.618879
更新日期:2020-12-15 00:00:00
abstract::The persistent primitive hypoglossal artery (PPHA) is the second most common persistent carotid-vertebrobasilar anastomosis, with an incidence of 0.027-0.26%. PPHAs change the hemodynamics of the carotid and vertebrobasilar system and may be associated with intracranial vascular anomalies, but basilar bifurcation aneu...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2017.00168
更新日期:2017-04-26 00:00:00
abstract::Background: Spontaneous use of the more-affected arm is a meaningful indicator of stroke recovery. The Bilateral Arm Reaching Test (BART) was previously developed to quantify arm use by measuring arm choice to targets projected over a horizontal hemi-workspace. In order to improve clinical validity, we constrained the...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00883
更新日期:2018-10-22 00:00:00
abstract::Several studies have demonstrated the advantages of the bilateral vs. unilateral cochlear implantation in listeners with bilateral severe to profound hearing loss. However, it remains unclear to what extent bilaterally implanted listeners have access to binaural cues, e.g., accurate processing of interaural timing dif...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00915
更新日期:2020-09-30 00:00:00
abstract::Chronic idiopathic axonal polyneuropathy (CIAP) is a slowly progressive predominantly sensory axonal polyneuropathy. The prevalence of CIAP increases with age. The pathogenic cause of CIAP is unknown although there are several prevailing etiological hypotheses. In this mini review, we focus on the hypothesis of distur...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00043
更新日期:2018-02-12 00:00:00
abstract::Moderate-severe traumatic brain injury (TBI) may result in difficulty with emotion recognition, which has negative implications for social functioning. As aspects of social cognition have been linked to resting-state functional connectivity (RSFC) in the default mode network (DMN), we sought to determine whether DMN c...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00825
更新日期:2019-08-09 00:00:00
abstract::For most individuals with traumatic brain injury (TBI), the ability to work is crucial to financial and psychological well-being. TBI produces a wide range of cognitive, physical, emotional, and interpersonal impairments that may undermine the ability to work. Employment is therefore a primary goal of TBI rehabilitati...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00190
更新日期:2019-03-15 00:00:00
abstract::The vestibular system plays a crucial role in the multisensory control of balance. When vestibular function is lost, essential tasks such as postural control, gaze stabilization, and spatial orientation are limited and the quality of life of patients is significantly impaired. Currently, there is no effective treatmen...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00066
更新日期:2014-04-29 00:00:00
abstract::The benefits of hemicraniectomy for malignant middle cerebral artery (MCA) stroke may not be apparent in the 3- to 6-months in which final outcomes are assessed in research studies. We present the case of a 15-year-old who underwent hemicraniectomy for malignant MCA stroke and was significantly disabled 3 and 6 months...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00123
更新日期:2012-08-02 00:00:00
abstract::The purpose of this study was to evaluate whether it is possible to restore the high-frequency angular vestibulo-ocular reflex (aVOR) in patients suffering from a severe bilateral vestibulopathy (BV) and implanted with a vestibular implant prototype. Three patients (S1-3) participated in the study. They received a pro...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00600
更新日期:2017-11-14 00:00:00
abstract::Background: Caregiver strain is recognized globally with Parkinson's disease (PD). Comparatively little is understood about caregiver burden and strain in Asia. Objective: To investigate caregiver strain for families living with PD in Singapore, in light of international data. Methods: Ninety-four caregivers were recr...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00455
更新日期:2020-06-23 00:00:00
abstract:BACKGROUND:Persistent postural-perceptual dizziness (PPPD) is a common functional vestibular disorder characterized by persistent symptoms of non-vertiginous dizziness and unsteadiness that are exacerbated by upright posture, self-motion, and exposure to complex or moving visual stimuli. Recent physiologic and neuroima...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00529
更新日期:2017-10-17 00:00:00
abstract::Background: Using conventional visual evoked potentials (VEPs), migraine patients were found to be hyperresponsive to visual stimulus. Considering that a significant portion of neuronal activity is lost for analysis in the averaging process of conventional VEPs, in this study we investigated visual evoked responses of...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00393
更新日期:2018-05-30 00:00:00
abstract::Background/Aims: High intracranial pressure (ICP) is associated with changes in peripapillary Bruch's membrane (pBM) shape on optical coherence tomography (OCT) images of the optic nerve head. It is not known if image acquisition pattern and analysis method impact this association. Materials and Methods: Cross section...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01137
更新日期:2018-12-21 00:00:00
abstract::Functional connectivity maps using resting-state functional magnetic resonance imaging (rs-fMRI) can closely resemble task fMRI activation patterns, suggesting that resting-state brain activity may predict task-evoked activation or behavioral performance. However, this conclusion was mostly drawn upon a healthy popula...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00339
更新日期:2017-07-19 00:00:00
abstract::Introduction: The recent publication of a trial failed to prove the efficacy of minimally invasive surgery (MIS) in patients with intracerebral hemorrhage. The aim of this study was to answer the question: Do we need more trials to compare MIS vs. conservative treatment in these patients? Methods: Databases were searc...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00426
更新日期:2020-06-04 00:00:00
abstract::Background: For the preoperatively often required confirmation of clinically defined carpal tunnel syndrome (CTS), sensory as well as motor nerve conduction studies can be applied. The aim of this study was to test the sensitivity of specific motor nerve conduction tests in comparison with, as well as in addition to, ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00149
更新日期:2019-03-14 00:00:00
abstract:Background and purpose:Stroke has been scarcely studied in Latin America (LA). The Mexican Institute of Neurology Stroke Registry was established in 1990 as a prospective computer-based database to register data obtained from patients admitted with stroke. Using this data, we attempted to define the profile of risk fac...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00207
更新日期:2018-04-04 00:00:00
abstract::Hemorrhagic cerebrovascular disease in the pediatric population can have devastating and long-term effects. Progress in the fields of genetics, neuroimaging, pharmacology, and surgical techniques has led to improved diagnosis and management of pediatric cerebrovascular diseases. In this review we discuss the current e...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.01055
更新日期:2020-09-17 00:00:00
abstract::Ankylosing spondylitis (AS) mainly affects the axial skeleton and is an important factor leading to chronic lower back pain in young individuals. However, few studies have explored alterations of brain gray matter volume in AS patients. The purpose of the present study was to describe brain gray matter abnormalities a...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.607646
更新日期:2020-11-30 00:00:00
abstract::Background: Given the lethal severity of amyotrophic lateral sclerosis (ALS), the aim of this study was to illuminate the coherence of depression and death anxiety in both ALS patients and caregivers and in how far patients and caregivers are influenced by the mindset of their respective counterpart. Methods: 30 coupl...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01035
更新日期:2018-12-03 00:00:00
abstract::Background: Multiple Sclerosis Partners Advancing Technology and Health Solutions (MS PATHS) is the first example of a learning health system in multiple sclerosis (MS). This paper describes the initial implementation of MS PATHS and initial patient characteristics. Methods: MS PATHS is an ongoing initiative conducted...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00632
更新日期:2020-08-07 00:00:00
abstract::Gait disturbances are one of the principal and most incapacitating symptoms of Parkinson's disease (PD). In addition, walking economy is impaired in PD patients and could contribute to excess fatigue in this population. An important number of studies have shown that treadmill training can improve kinematic parameters ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00191
更新日期:2014-09-26 00:00:00
abstract::Aims: To investigate the relationship between clinical and imaging features of stroke patients with patent foramen ovale (PFO) and those with spontaneous intracranial artery dissection (SIAD). Materials and methods: We retrospectively examined both clinical and imaging results of 40 stroke patients with PFO and 29 wit...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00418
更新日期:2019-04-24 00:00:00
abstract::Background and Purpose: Acute intracerebral hemorrhage (ICH) requires rapid decision making toward neurosurgery or conservative neurological stroke unit treatment. In a previous study, we found overestimation of clinical symptoms when clinicians rely mainly on cerebral computed tomography (cCT) analysis. The current s...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00997
更新日期:2019-09-26 00:00:00
abstract::Pathological high-frequency oscillations are a novel marker used to improve the delineation of epileptogenic tissue and, hence, the outcome of epilepsy surgery. Their practical clinical utilization is curtailed by the inability to discriminate them from physiological oscillations due to frequency overlap. Although it ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00687
更新日期:2017-12-21 00:00:00
abstract::Introduction: The main objective of this study was to investigate whether electromyography (EMG) has additional value in the confirmation of the clinical diagnosis of ulnar nerve entrapment at the elbow (UNE) if nerve conduction studies (NCS) are normal. Methods: A prospective cross-sectional cohort observational stud...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00196
更新日期:2019-03-11 00:00:00
abstract:BACKGROUND:Public awareness of and attitude toward disease is an important issue for patients. Public awareness of essential tremor (ET) has never been studied. METHODS:We administered a 10-min, 31-item questionnaire to 250 consecutive enrollees. These included three samples carefully chosen to have a potential range ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00060
更新日期:2016-04-22 00:00:00