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This year’s International Society for Quality of Life Research (ISOQOL) conference took place in Cologne, Germany on 13-16 October, with the Vitaccess team represented by Sam Llewellyn and Sally Vincent, our Director and Associate Director of Patient-Centered Research, respectively. In this “ISOQOL shorts”, we provide a summary of Sam’s oral presentation on the “Development of two conceptual models to describe the patient and caregiver reported impacts of living with X-linked myotubular myopathy (XLMTM)”.
Why is it meaningful to illustrate the impact of a rare genetic disorder with limited available treatment options on the quality of life (QoL) of patients and caregivers? In the case of X-linked myotubular myopathy (XLMTM) – a condition leading to severe muscle weakness and respiratory issues, primarily in males1 – understanding this impact is a key component of developing new and effective treatment strategies.
Our team explored the impact of XLMTM on the QoL of patients and caregivers in a targeted literature review, conducting a thematic analysis to sort emerging concepts and ultimately develop two conceptual models.
The resulting patient conceptual model described themes covering impacts such as:
- pain/discomfort
- behavioral/learning difficulties
- frustration
- communication difficulties
- missing school
- self-esteem and self-image
The resulting caregiver conceptual model described themes covering impacts such as:
- anxiety/depression
- a negative impact on social life
- the patient’s dependency on the caregiver
- missing work
- direct/indirect costs incurred.
Positive impacts were also captured in the models, such as maintaining a positive outlook for patients and fostering positive feeling towards their children for caregivers.
These models can be used to shape patient-centric clinical studies and aid the development of XLMTM-specific patient- and caregiver-reported outcome measures. If you are interested in learning more, check out the full abstract on our Publications page, or reach out to a member of our team at https://vitaccess.com/contact/.
By Octavia Borecka, Jack Lawrence, and Sam Llewellyn
