Attitudes and expectations of patients with neuromuscular diseases about their participation in a clinical trial

Gargiulo, Marcela; Herson, Ariane; Michon, Claire-Cécile; Hogrel, Jean‐Yves; Doppler, Valérie; Laloui, K.; Herson, S.; Payan, C.; Eymard, B.; Laforêt, Pascal

doi:10.1016/j.neurol.2013.04.005

Cited by 4 publications

(2 citation statements)

References 9 publications

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“… 11 Pompe disease [ 131 ] SF-12 Physical functioning, role limitations, social functioning, pain, mental health, vitality 12 > 12 Familial hypercholesterolemia [ 91 ], hypophosphatasia [ 80 ], LC-FAOD [ 38 ] TAAQOL Gross motor functioning, fine motor functioning, cognition, sleep, pain, social contacts, daily activities, sex, vitality, happiness, depressive mood, anger 45 > 16 Galactosemia [ 89 ], mevalonate kinase deficiency [ 66 ], PKU [ 46 , 94 ] WHOQOL-100 Vitality, psychological well-being, relationship with friends, leisure activities, relationship with parents, physical well-being, relationship with teachers, school, body image, relationship with medical staff. 100 > 18 IMDs [ 125 ], PKU [ 43 ] WHOQOL-BREF Physical health, psychological health, social relationships, and environment 26 > 18 Pompe disease [ 126 ], OAs, including MMA, PA, IVA and GA1; and UCDs, including CPS1 deficiency, citrullinemia type I, ASL deficiency, HHH syndrome and OTC deficiency [ 50 ], oculocutaneous albinism [ 81 ], Wilson disease [ 171 ] Specific PKU-QOL Adult version PKU symptoms, PKU in general (emotional, practical, social and overall impact), administration of Phe-free protein supplements, dietary protein restriction 65 > 18 PKU [ 89 ] Pediatric instruments General CHQ General health, physical functioning, role limitations due to emotional problems, role limitations due to physical health, body pain, behaviour, global behaviour, mental health, self-esteem, general health perceptions, emotional parental impact, time parental impact, family activities, family cohesion. 5–18 Familial hypomagnesemia [ 85 ], MPS IH [ 36 ], MPS II [ …”

Section: Resultsmentioning

confidence: 99%

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal

Brasil

Francisco

et al. 2018

Orphanet J Rare Dis

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BackgroundHealth-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to severe and mostly lacking effective therapies. Consequently, HrQoL evaluation is particularly relevant.ObjectivesWe aimed to: (1) identify patient and/or caregiver-reported HrQoL instruments used among IMDs; (2) identify the main results of the application of each HrQoL tool and (3) evaluate the main limitations of HrQoL instruments and study design/methodology in IMDs.MethodsA scoping review was conducted using methods outlined by Arksey and O’Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks.ResultsOf the 1954 studies identified, 131 addressed HrQoL of IMDs patients using PROMs and/or ObsROMs, both in observational or interventional studies. In total, we identified 32 HrQoL instruments destined to self- or proxy-completion; only 2% were disease-specific. Multiple tools (both generic and disease-specific) proved to be responsive to changes in HrQoL; the SF-36 and PedsQL questionnaires were the most frequently used in the adult and pediatric populations, respectively. Furthermore, proxy data often demonstrated to be a reliable approach complementing self-reported HrQoL scores. Nevertheless, numerous limitations were identified especially due to the rarity of these conditions.ConclusionsHrQoL is still not frequently assessed in IMDs. However, our results show successful examples of the use of patient-reported HrQoL instruments in this field. The importance of HrQoL measurement for clinical research and therapy development, incites to further research in HrQoL PROMs’ and ObsROMs’ creation and validation in IMDs.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0953-9) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal

Brasil

Francisco

et al. 2018

Orphanet J Rare Dis

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“…Disorders of glycogen storage associated with myopathy typically result in exercise-induced muscle pain and fatigue and progressive muscle weakness [16]. Elevated CK can occur with exercise; when severe, extensive muscle breakdown, or rhabdomyolysis, can occur, manifesting as muscle pain, weakness, myoglobinuria (dark urine), hyperkalemia, and kidney failure.…”

Section: Clinical Presentation Of the Metabolic Myopathiesmentioning

confidence: 99%

The Myopathies

Dalton¹,

Goldman²,

Sampson³

2014

Genetic Counseling for Adult Neurogenetic Disease

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Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases

Michon

Gargiulo

Hahn-Barma³

et al. 2014

J of Inher Metab Disea

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The impairment in social cognition (recognition of emotions and ability to attribute mental states to others) and executive functions observed could be a consequence of orbito-frontal dysfunction due to the abnormal glycogen metabolism characteristic of the underlying disease. These results are consistent with the hypothesis of a central nervous system involvement in patients with GSDIII, but need to be confirmed in future research. This could explain the social and economic difficulties, and the lack of compliance to the medical follow-up presented by these patients. It suggests that these disturbances need to be taken into account when planning the medical management of patients with GSDIII.

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Attitudes and expectations of patients with neuromuscular diseases about their participation in a clinical trial

Cited by 4 publications

References 9 publications

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

The Myopathies

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases

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