Economic and care considerations of Marfan syndrome

Blankart, Carl Rudolf; Milstein, Ricarda; Rybczynski, Meike; Schuler, H. G.; Kodolitsch, Yskert Von

doi:10.1080/14737167.2016.1240619

Cited by 8 publications

(5 citation statements)

References 65 publications

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“…These interventions have proven lifesaving, as well as life-extending [5,73]. However, the burden of MFS on quality of life, and the economic stress, for both patients and their families, remains substantial [74,75]. In more recent years major efforts have been made to discover and develop therapeutics for MFS [31][32][33]76].…”

Section: Discussionmentioning

confidence: 99%

Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52

Cale

Greer

Fletcher

et al. 2021

IJMS

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Marfan syndrome is one of the most common dominantly inherited connective tissue disorders, affecting 2–3 in 10,000 individuals, and is caused by one of over 2800 unique FBN1 mutations. Mutations in FBN1 result in reduced fibrillin-1 expression, or the production of two different fibrillin-1 monomers unable to interact to form functional microfibrils. Here, we describe in vitro evaluation of antisense oligonucleotides designed to mediate exclusion of FBN1 exon 52 during pre-mRNA splicing to restore monomer homology. Antisense oligonucleotide sequences were screened in healthy control fibroblasts. The most effective sequence was synthesised as a phosphorodiamidate morpholino oligomer, a chemistry shown to be safe and effective clinically. We show that exon 52 can be excluded in up to 100% of FBN1 transcripts in healthy control fibroblasts transfected with PMO52. Immunofluorescent staining revealed the loss of fibrillin 1 fibres with ~50% skipping and the subsequent re-appearance of fibres with >80% skipping. However, the effect of exon skipping on the function of the induced fibrillin-1 isoform remains to be explored. Therefore, these findings demonstrate proof-of-concept that exclusion of an exon from FBN1 pre-mRNA can result in internally truncated but identical monomers capable of forming fibres and lay a foundation for further investigation to determine the effect of exon skipping on fibrillin-1 function.

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Section: Discussionmentioning

confidence: 99%

Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52

Cale

Greer

Fletcher

et al. 2021

IJMS

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“…Although regular monitoring, prophylactic medication and timely surgical intervention can significantly postpone the progression of disease and reduce the occurrence of cardiovascular accidents, there is still a large proportion of patients with CEL who have received treatment only in the later stages of the disease 8. During clinical practice, we have found that there hardly any patients proceed with regular follow-up visits with cardiovascular specialists.…”

Section: Introductionmentioning

confidence: 95%

What hinders congenital ectopia lentis patients’ follow-up visits? A qualitative study

et al. 2020

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ObjectivesThe aim of our study is to give insight into congenital ectopia lentis (CEL) patients’ care-seeking behaviour and explore the factors affecting their follow-up visits.DesignCross-sectional study; in-depth and face-to-face semistructured interview.SettingA large-scale ophthalmology hospital in China.Participants35 patients with CEL and their parents from May 2017 to August 2017.Main outcome measuresThemes and categories. The interviews were audio-recorded, transcribed verbatim, coded and analysed using grounded theory. Data collection was closed when new themes did not emerge in subsequent dialogues.ResultsThe factors affecting the timely visits included insufficient awareness of CEL, shame on hereditary disease, lack of effective doctor–patient communication, lack of reliable information online and daily stressors.ConclusionContinuing medical education of severe and rare disease, reforming the pattern of medical education, constructing an interactive platform of the disease on the internet and improving healthcare policy are effective ways to improve the diagnosis and treatment status of CEL in China.

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“…Predictive, preventive, and personalized medicine (PPPM) increased life expectancy to nearly normal because elective replacement of the proximal aorta is performed before aortic dissection or rupture develop (3). Care of Marfan patients is a personalized concept, which includes living conditions and family planning of the individual (4,5). To further optimize PPPM in MFS, it is crucial to identify possible risk factors for aortic events and cardiovascular death.…”

Section: Introductionmentioning

confidence: 99%

Sleep apnea predicts cardiovascular death in patients with Marfan syndrome A cohort study

Geßler

Wohlmuth

Anwar

et al. 2022

Preprint

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Background Identification of possible risk factors is crucial to optimize predictive, preventive, and personalized medicine (PPPM) in Marfan syndrome (MFS). Despite a well known relationship between sleep apnea and MFS, the impact of sleep apnea on cardiovascular death and on aortic events remains unclear. Methods This is an investigator-initiated study with long-term follow-up data of 105 MFS patients. All participants were screened for sleep apnea regardless of symptoms. The primary endpoint was cardiovascular death and the secondary outcome was the occurrence of aortic events. Results Sleep apnea with an apnea-hypopnea-index (AHI) > 5/h was observed in 21.0% (22/105) with mild sleep apnea in 13% (14/105) and moderate to severe sleep apnea in 7.6% (8/105). After a median follow-up of 7.76 years [interquartile range: 6.84, 8.41], 10% (10/105) had died, with cardiovascular cause of death in 80% (8/10). After adjusting for age and body-mass-index (BMI), the AHI-score emerged as an independent risk factor for cardiovascular death (hazard ratio 1.712, 95%-confidence interval [1.061–2.761], p = 0.0276). The secondary outcome of aortic events occurred in 33% (35/105). There was no effect of the AHI-score on aortic events after adjusting for age and BMI (hazard ratio 0.965, 95%-confidence interval [0.617–1.509]), possibly due to a high number of patients with prior aortic surgery. Interpretation: Sleep apnea shows to be independently predictive of cardiovascular death in patients with Marfan syndrome. These findings highlight the necessity of early sleep apnea screening in MFS patients as an important adjunct to the PPPM management of the disease.

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Economic and care considerations of Marfan syndrome

Cited by 8 publications

References 65 publications

Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52

Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52

What hinders congenital ectopia lentis patients’ follow-up visits? A qualitative study

Sleep apnea predicts cardiovascular death in patients with Marfan syndrome A cohort study

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