scholarly journals Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ann-Marie Chapman ◽  
Marieke Schurer ◽  
Laure Weijers ◽  
Amer Omar ◽  
Hiba Lee ◽  
...  

Abstract Background Non-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 2018. This Delphi panel aimed to understand how outcomes of the pivotal phase III Mexiletine study (MYOMEX) translate to real world practice and investigate health resource use, quality of life and the natural history of NDM to support economic modelling and facilitate patient access. Methods Nine clinical experts in treating NDM took part in a two-round Delphi panel. Their knowledge of NDM and previous use of mexiletine as an off-label treatment prior to NaMuscla’s approval ensured they could provide both qualitative context and quantitative estimates to support economic modelling comparing mexiletine (NaMuscla) to best supportive care. Consensus in four key areas was sought: healthcare resource utilization (HRU), treatment with mexiletine (NaMuscla), patient quality of life (QoL), and the natural history of disease. Concept questions were also asked, considering perceptions on the feasibility of mapping the validated Individualized Neuromuscular Quality of Life (INQoL) instrument to the generic EQ-5D™, and the potential impact on caregiver QoL. Results Consensus was achieved for key questions including the average long-term dosage of mexiletine (NaMuscla) in practice, the criteria for eligibility of myotonia treatment, the clinical importance of QoL outcomes in MYOMEX, the higher proportion of patients with increased QoL, and the reduction in the need for mental health resources for patients receiving mexiletine (NaMuscla). While consensus was not achieved for other questions, the results demonstrated that most experts felt mexiletine (NaMuscla) reduced the need for HRU and was expected to improve QoL. The QoL mapping exercise suggested that it is feasible to map domains of INQoL to EQ-5D. Points of interest for future research were identified, including that mexiletine (NaMuscla) may slow the annual decrease in QoL of patients over their lifetime, and a significant negative impact on QoL for some caregivers. Conclusions This project successfully provided data from an informed group of clinical experts, complementing the currently available clinical trial data for mexiletine (NaMuscla) to support patient access decisions.

2009 ◽  
Vol 31 (2) ◽  
pp. 175-178 ◽  
Author(s):  
Luca Padua ◽  
D. Pareyson ◽  
I. Aprile ◽  
T. Cavallaro ◽  
D. A. Quattrone ◽  
...  

2017 ◽  
Vol 185 ◽  
pp. 59-66 ◽  
Author(s):  
Sean D. Pokorney ◽  
Sunghee Kim ◽  
Laine Thomas ◽  
Gregg C. Fonarow ◽  
Peter R. Kowey ◽  
...  

Gut ◽  
1996 ◽  
Vol 38 (4) ◽  
pp. 481-486 ◽  
Author(s):  
N I McDougall ◽  
B T Johnston ◽  
F Kee ◽  
J S Collins ◽  
R J McFarland ◽  
...  

Urology ◽  
1994 ◽  
Vol 44 (6) ◽  
pp. 825-831 ◽  
Author(s):  
Cynthia J. Girman ◽  
Robert S. Epstein ◽  
Steven J. Jacobsen ◽  
Harry A. Guess ◽  
Laurel A. Panser ◽  
...  

2017 ◽  
Vol 79 (03) ◽  
pp. 196-199
Author(s):  
Lina Bellstädt ◽  
Hans-Jakob Steiger ◽  
Sevgi Sarikaya-Seiwert ◽  
Thomas Beez

Background/Aims Ventriculoperitoneal shunts (VPS) are a mainstay of treatment for hydrocephalus. Morbidity related to infection and dysfunction is well known, whereas data on psychosocial outcome and quality of life are scarce. Our aim was to assess headache burden and shunt-related impact on daily life in children growing up with a VPS. Methods Patients between 3 and 21 years of age were identified and their families were contacted. A set of standardized questionnaires was used to assess headache and quality of life. Results Fifteen patients with a mean age of 12 years agreed to participate in this study. Satisfaction with the VPS and improvement of the patient's condition was reported by 87%. A total of 67% denied negative impact on everyday life, reported a headache less than once a month, and never or rarely miss school. However, 53% take precautions before special activities. Conclusions The results demonstrate that modern VPS systems are tolerated very well and do not per se reduce quality of life. However, patients adapt to the presence of a VPS by avoiding risks and taking precautions. Chronic headache is not a major problem and not necessarily attributed to the VPS. Nevertheless, most patients asked for technical improvements, which might guide future research and the technical development of VPS.


2009 ◽  
Vol 7 (1) ◽  
pp. 49-56 ◽  
Author(s):  
Sheila N. Garland ◽  
Linda E. Carlson ◽  
Hubert Marr ◽  
Steve Simpson

AbstractObjective:The negative impact of a palliative cancer diagnosis on the quality of life of patients and their partners is well documented. Unfortunately, research on interventions to improve psychological and spiritual well-being of these couples has been considered impractical because of the deleterious influence of disease progression on participation. This study evaluated the feasibility of offering the Tapestry Retreat, an intensive psychosocial intervention for palliative care patients and their partners.Methods:Participants in the Tapestry Retreat included 15 patients with advanced breast, prostate, or colon cancer and their partners (n = 30). Also included was a natural history group consisting of 20 patients and their partners (n = 40). All couples completed questionnaires related to quality of life, distress, marital satisfaction, and existential concerns at baseline, after the retreat or 1 month after baseline, and then again at 3, 6, 9, and 12 months.Results:Patients in the Tapestry group were significantly more likely to be women who had received prior psychological support and were less comfortable with their finances. Partners attending the Tapestry retreat were also more likely to have received prior psychological support.Significance of results:Despite issues with recruitment and retention, retreat participation was considered feasible. Recommendations for future research are discussed.


2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P41-P42
Author(s):  
James Y Suen ◽  
Lisa M Buckmiller ◽  
Chun-Yang Fan ◽  
Gal Shafirstein ◽  
Robert Glade

Objective 1) To demonstrate the natural history of arteriovenous malformation (AVMs) when left untreated or inadequately managed. 2) To demonstrate the need for major treatment to patients, families, healthcare providers, and insurance companies. Methods Records from 10 of 50 representative patients treated at University of Arkansas for Medical Sciences (UAMS) for advanced AVMs were reviewed for age at presentation, gender, presenting symptoms, previous treatment, disease course, and post-presentation management. Patients were asked if quality of life had improved after treatment at UAMS Facial photos from childhood were obtained and compared with photos taken at time of presentation. Results 10 patients (7 male, 3 female, range 21–46 years) received treatment. All patients presented with bleeding, pain and/or facial destruction. 6 of 10 patients received previous embolization. No patients had undergone previous surgical resection. All were informed by a previous physician that the disease was incurable or treatment options had been exhausted. All patients experienced subsequent worsening of symptoMS All patients were treated at UAMS with preoperative embolization followed by surgical resection and required multiple surgeries to remove persistent AVM. All patients indicated quality of life improved after embolization/surgical resection. Comparison of photos revealed progression of disease in all cases marked by facial destruction and deformity. Conclusions AVMs display a progressive and destructive nature when left untreated or inadequately managed. Natural history can be used to demonstrate to patients, families, and healthcare providers the seriousness of disease and convince insurance companies that radical treatment is typically necessary to obtain control or cure.


2021 ◽  
pp. 1-6
Author(s):  
Deborah Theodoros

Communication and swallowing disorders are highly prevalent in people with Parkinson’s disease (PD). The negative impact of these disorders on the quality of life of the person with PD and their families cannot be underestimated. Despite a demand for speech-language pathology services to support people with PD, many barriers to services exist. Telerehabilitation provides an alternate and complementary approach to in-person therapy that is patient-centered, enables timely assessment and intervention, and facilitates continuity of care throughout the course of the disease. This review explores the telerehabilitation applications designed for the management of the communication and swallowing disorders in PD, addresses the benefits and challenges of telerehabilitation, identifies future research directions, and highlights the potential of new technologies to enhance the management of communication and swallowing disorders and quality of life for people with PD.


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