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Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

ABSTRACT: This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.2 years, respectively, and the mean age at follow-up completion was 12.37 years (range: 1-25 years). Most patients exhibited splenomegaly (18/19) and hepatomegaly (17/19) at the time of diagnosis. The most frequent neurological abnormalities at onset were psychomotor retardation (14/19) and extrinsic muscle disorders (11/19), including oculomotor apraxia, supranuclear palsy, and strabismus. The L444P (c.1448T>C) allele was predominant, with the L444P (c.1448T>C) homozygous genotype mainly associated with visceral manifestations like hepatosplenomegaly, anemia, and thrombocytopenia. All patients received enzyme replacement therapy (ERT); other treatments included miglustat and the chaperone (ambroxol). Visceral manifestations, including hepatosplenomegaly and hematological and bone manifestations, were mostly controlled with ERT, except for kyphosis. The data from this study may help to increase the evidence base on this rare disease and contribute to improving the clinical management of GD3 patients.

SUBMITTER: Stanescu S

PROVIDER: S-EPMC10603893 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature

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Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Stanescu Sinziana S Correcher Medina Patricia P Del Castillo Francisco J FJ Alonso Luengo Olga O Arto Millan Luis Maria LM Belanger Quintana Amaya A Camprodon Gomez Maria M Diez Langhetée Lydia L Garcia Campos Oscar O Matas Garcia Ana A Perez-Moreno Jimena J Rubio Gribble Barbara B Visa-Reñé Nuria N Giraldo-Castellano Pilar P O'Callaghan Gordo Mar M

Biomedicines 20231022 10

This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.2 years, respectively, and the mean age at follow-up completion was 12.37 years (range: 1-25 years). Most patients exhibi ...[more]

PMID: 37893235

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Project description:BackgoundPain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considered as nociceptive pain secondary to skeletal involvement but it is described even in the absence of bone disease without a clear explanation. In the last years an increasing number of reports have described the presence of neurological manifestation in Gaucher type 1 patients, including subclinical large fibre neuropathy. In our Gaucher clinic we have observed the recurrence of painful symptoms in a group of type 1 Gaucher patients even after a long-term enzyme replacement therapy.MethodsA cross-sectional study was designed to investigate the pathophysiology of pain in a cohort of 25 Gaucher patients (13 females, 12 males). Twenty-two patients received enzyme replacement therapy for a period of time ranging from 10 to >20 years, while three were new diagnosis. Pain was classified as bone or neurologic related on the basis of anamnestic data, clinical and electrophysilogical examinations. Intensity and quality of pain were recorded by Douleur Neuropathique en 4 questionnaire and Neuropathic Pain Symptom Inventory. Neuroalgological evaluation, quantitative sensory testing, nerve conduction studies and evaluation of epidermal nerve fibres density were performed. Comorbidities for peripheral neuropathy were excluded.ResultsThirteen patients complained of pain suggestive of neuropathic origin with proximal patchy distribution, six manifested severe pain paroxysmal, nine pinprick hypoesthesia and 17 thermal hypoesthesia. At quantitative sensory testing, all of them showed high cold thresholds with errata sensation (burning instead of cold), paradoxical heat sensation and mechanic hypoesthesia; three patients showed pressure pain hyperalgesia. Epidermal denervation was present in 19 patients, 12 of them with non-length dependent pattern.ConclusionsThese results confirm the role of peripheral neuropathy in Gaucher pain and demonstrate that skin denervation is as a constitutive feature of the disorder. In addition, they further confirm the existence of a continuum Gaucher phenotype, and provide a new interpretation of pain origin that should be considered for an appropriate disease management and to avoid unnecessary dose escalations of enzyme therapy.

Project description:ObjectiveTo describe the real-world treatment persistence (defined as the continuation of medication for the prescribed treatment duration), demographics and clinical characteristics, and treatment patterns for patients prescribed erenumab for migraine prevention in Canada.BackgroundThe effectiveness of prophylactic migraine treatments is often undermined by poor treatment persistence. In clinical trials, erenumab has demonstrated efficacy and tolerability as a preventive treatment, but less is known about the longer term treatment persistence with erenumab.MethodsThis is a real-world retrospective cohort study where a descriptive analysis of secondary patient data was conducted. Enrollment and prescription data were extracted from a patient support program for a cohort of patients prescribed erenumab in Canada between September 2018 and December 2019 and analyzed for persistence, baseline demographics, clinical characteristics, and treatment patterns. Descriptive analyses and unadjusted Kaplan-Meier (KM) curves were used to summarize the persistence and dose escalation/de-escalation at different timepoints.ResultsData were analyzed for 14,282 patients. Median patient age was 47 years, 11,852 (83.0%) of patients were female, and 9443 (66.1%) had chronic migraine at treatment initiation. Based on KM methods, 71.0% of patients overall were persistent to erenumab 360 days after treatment initiation. Within 360 days of treatment initiation, it is estimated that 59.3% (KM-derived) of patients who initiated erenumab at 70 mg escalated to 140 mg, and 4.4% (KM-derived) of patients who initiated at 140 mg de-escalated to 70 mg.ConclusionsThe majority of patients prescribed erenumab remained persistent for at least a year after treatment initiation, and most patients initiated or escalated to a 140 mg dose. These results suggest that erenumab is well tolerated, and its uptake as a new class of prophylactic treatment for migraine in real-world clinical practice is not likely to be undermined by poor persistence when coverage for erenumab is easily available.

Project description:INTRODUCTION:Outcomes data for patients who received tedizolid for acute bacterial skin and skin-structure infections (ABSSSIs) are scant. We provide a real-world analysis of economic and clinical outcomes following tedizolid use in the outpatient setting. METHODS:This retrospective study of adults with skin infections treated with tedizolid (index period: 1 July 2014-31 May 2016) used data from the Optum Research and Impact National Benchmark databases. RESULTS:Ninety-one patients received tedizolid for the treatment of skin infections (with complications, n = 18; without complications, n = 73). Some patients had > 1 complication and infection site. Among patients with complications, pre-index complications during the [index date - 30] through [index date + 1] period included osteomyelitis (44.4%), septicemia (44.4%), and prosthetic joint/device/graft infection (16.7%). For the [index date - 7] through [index date + 1] period, the infection site included abscesses (55.6%) and chronic ulcers (38.9%). Mean (standard deviation [SD]) days supplied for the index tedizolid claim was 6.8 (2.3) days. Healthcare resource utilization (HCRU) during the 30-day post-index period included ≥ 1 ambulatory visit (100.0%), ≥ 1 emergency department (ED) visit (16.7%), and ≥ 1 hospitalization (22.2%). Median 30-day post-index all-cause costs were $11,098 [lower quartile (Q1), $5688; upper quartile (Q3), $16,246; mean (SD), $14,637 ($11,435)]. Among patients without complications, the pre-index infection site from ([index date - 7] through [index date + 1]) included abscesses (60.3%), chronic ulcers (37.0%), and cellulitis (2.7%). Mean (SD) days supplied for the index tedizolid claim was 6.6 (2.5) days. Thirty-day post-index HCRU included ≥ 1 ambulatory visit (91.8%), ≥ 1 ED visit (17.8%), and ≥ 1 hospitalization (5.5%). Median 30-day post-index all-cause costs were $3230 (Q1, $2345; Q3, $6847; mean [SD], $6898 [$11,129]). CONCLUSIONS:Patients treated with tedizolid in the outpatient setting experienced a short duration of therapy, low hospital admission, and modest post-index HCRU indicators, suggesting its utility for outpatient therapy of ABSSSIs.

Project description:ObjectiveBenzodiazepine rescue medications are established as therapy for acute termination of seizure clusters. A post-hoc analysis of a clinical trial of seizure cluster treatment with diazepam nasal spray found a potential longer-term impact over a year of treatment. In this retrospective analysis, we tested the hypothesis that benzodiazepine-treated seizure clusters are associated with prolonged time to the next seizure cluster compared with untreated seizure clusters in a patient-reported real-world database.MethodsWe analyzed data on self-reported seizures and benzodiazepine rescue medication administration in the Seizure Tracker™ database between 2007 and 2022. Kaplan-Meier analysis was used to compare treated vs untreated seizure clusters with respect to time to start of the next seizure cluster or immediate-use medication administration. Mixed-effects analysis was used to compare the number of seizures per cluster for treated and untreated seizure clusters. Robustness of findings was evaluated across three operational seizure-cluster definitions: ≥2 seizures in 4 hours as primary analysis and in 6 and 24 hours as sensitivity analyses.ResultsA total of 10 889 benzodiazepine immediate-use medication administrations (n = 220 patients) met inclusion criteria. Benzodiazepine rescue administrations were followed by longer time to the next seizure cluster or rescue administration, compared with untreated seizure clusters, corresponding to a median of 4.9 days following treated seizure clusters and a median of 0.8 days following untreated seizure clusters. This prolongation was driven by a minority of patients (accounting for 45.9% of seizure clusters in the sample) and patients were more likely to be women. The number of seizures per cluster was lower when treatment was administered earlier in the seizure cluster.SignificanceThese retrospective real-world data suggest that the effect of benzodiazepines on termination of seizure clusters may be more pronounced when administration occurs earlier after onset, and support a hypothesis of a possible longer-term effect of benzodiazepines beyond immediate-use acute seizure termination.

Dataset Information

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Publications

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

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