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#apaperaday: Toward patient-centered treatment goals for Duchenne muscular dystrophy: insights from the “Your Voice” study

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Toward patient-centered treatment goals for Duchenne muscular dystrophy: insights from the “Your Voice” study

Today’s pick is from Orphanet Journal of Rare Diseases by Schwartz et al on “your voice” study to investigate what parameters influence quality of life & what patients & caregivers expect from treatments. DOI: 10.1186/s13023-023-02674-w.

In the past decades research into disease and treatment has become more and more patient centered. Patients are not only participating by being measured but are actively involved also in developing outcome measures for functioning and quality of life (QoL).

QoL is a very personal thing and to assess what is important and often closed questions are asked. However for rare diseases that may be too generic and miss nuances that are important for the patients.

Here authors asked open ended questions to patients with Duchenne and their caregivers. The “your voice” study was initiated by the Jett Foundation but other advocacy groups were involved as well. 20 patients/caregivers were involved for each group: ambulatory (3-14 yrs), transition (6-17) and non ambulant (10-33). All were from the USA, most were white and most caregivers were women.

The study showed that functional aspects were always important but that ambulatory patients focused more on sport and recreation while transitioning and non ambulant patients focused on relationships. For ambulatory (younger) patients fitting in was important while for older (transitioning and non ambulant) patients independence was more improved. Making connections was always important.

For independence transitioning and not ambulant patients indicated that tools can help but relying on tools can also interfere with independence (eg ventilatory support). Important factors for QoL are friendships and feeling a sense of accomplishment.

For independence transitioning and not ambulant patients indicated that tools can help but relying on tools can also interfere with independence (eg ventilatory support). Important factors for QoL are friendships and feeling a sense of accomplishment.

Behavioral issues are especially prominent in the ambulatory patients. Participants in the study expect/hope that treatments will maintain functioning, independence and energy levels. Participants worry about side effects of glucocorticoids (part of the standards of care).

Authors discuss that all participants find daily functioning important but that with disease progression there is a shift towards a focus on relationships. This may be because older patients and caregivers have had more time to adapt to the disease and its impact. I would like to point out that sadly for Duchenne I’m not sure whether this really is the case as the disease is characterized by continuously losing ability. So the status quo is always a temporary thing.

Authors stress that because goals and priorities change with disease progression interventions should be more tailored. Eg for younger patients the focus should be on fitting in and inclusiveness while it should be on reducing restrictions and isolation for older patients.

Providing tools to help cope would benefit patients and caregivers. Outcome measured should also be tailored to stage of progression. Authors outline limitations: the study was small (impossible to do a larger study with open questions).

In a follow up more individuals can be included with more focused questions based in these results. Another limitation is that authors used an invalidated way to classify their groups into non ambulant, transitioning and ambulant.

Finally they did not check for caregiver fatigue so potentially that has reflected on feedback provided by caregivers. Not mentioned by authors: study only involved USA families and it is very likely cultural aspects play a role. So more work to be done but one has to start somewhere. Note that this paper also fits with the World Duchenne Awareness Day 2023 theme breaking barriers. Duchenne patients encounter many barriers and these impact on the quality of life.