Spanish survey finds high DMD gene-therapy willingness amid readiness gaps

Spanish healthcare professionals involved in Duchenne muscular dystrophy showed strong willingness to adopt gene therapy, but a cross-sectional survey suggests that enthusiasm has outpaced clinical and institutional preparation. Among 37 pediatric neurologists, 67.6% expressed strong willingness to use gene therapy in routine practice, despite most having little direct experience with it. The same respondents identified acute safety after infusion, uncertainty about long-term effectiveness and treatment cost as their leading concerns. Confidence in the Six-Minute Walk Test was the sole factor independently associated with high adoption intent in a multivariable model, although the estimate had wide uncertainty.

The non-interventional, web-based study was conducted from July to December 2025 and included 53 healthcare professionals across Spain: 37 pediatric neurologists, 11 rehabilitation physicians and five hospital pharmacists. Most worked in tertiary referral hospitals, and roughly half used dedicated neuromuscular consultations. Fewer than 20% of respondents had participated in clinical trials, while 35.1% of pediatric neurologists reported prior clinical experience with gene therapy. The researchers used ad hoc questionnaires, validated psychometric instruments and multivariable logistic regression to assess technical knowledge, attitudes, perceived usefulness, behavioral intent, barriers and facilitators. Pediatric neurologists also completed measures of openness to evidence-based practice, care-related regret, empathy, work engagement and burnout.

The treatment in focus is delandistrogene moxeparvovec, a recombinant adeno-associated virus therapy that delivers a functional micro-dystrophin gene assembly directly to target muscle tissue. The source article describes it as the sole gene therapy available for Duchenne muscular dystrophy at the time of publication, although following an unfavorable European Medicines Agency opinion it lacked European approval and remained restricted to clinical trials. Its administration nevertheless exposes hospitals to requirements that differ substantially from those of conventional medicines, including viral-vector cold-chain storage, dedicated infusion facilities, acute monitoring capacity and coordination among neurology, pharmacy, rehabilitation, cardiology, immunology and intensive-care services. The regulatory position made the survey a measure of anticipated implementation rather than experience with routine European prescribing.

Pediatric neurologists were optimistic about the treatment’s anticipated clinical value. A total of 78.4% considered gene therapy at least moderately effective for improving overall outcomes, and 81.0% considered it at least moderately useful for slowing progressive muscle weakness. Almost all anticipated a positive effect on health-related quality of life, and 89.2% agreed that introducing disease-modifying therapies would have significant clinical value in routine practice. Overall, 91.9% expressed high openness to adoption in their own practice, and 89.2% reported being enthusiastic or extremely enthusiastic about changing the standard of care. Seventy-three percent agreed that clinical benefits would outweigh potential risks. These were assessments of expected benefit and hypothetical intent, not measurements of efficacy in treated patients.

Despite that optimism, 67.6% of pediatric neurologists rated the complete delivery pathway—including hospital logistics, multidisciplinary coordination and mandatory long-term surveillance—as challenging or extremely challenging, and only 54.0% anticipated smooth workflow integration. Ranked responses identified acute post-infusion safety problems as the most clinically important barrier, with a mean relevance score of 2.30, where lower values denote greater importance. Uncertainty about long-term efficacy ranked second at 2.70, followed by high cost and reimbursement constraints at 3.38. Administrative and institutional burden, lack of formal clinical guidelines, possible resistance from patients or caregivers and the operational burden of infusion were perceived as less prominent barriers. The underlying concern extends beyond whether a therapy can be administered to whether hospitals can manage immune-mediated toxicities, establish standardized surveillance and sustain follow-up over many years. The article describes serious potential complications including hepatotoxicity, myocarditis, thrombotic microangiopathy and treatment-related mortality.

The strongest reported facilitator was access to more robust clinical-trial evidence, selected by 86.5% of pediatric neurologists. Formal guidance from scientific societies was chosen by 78.4%, reduction of institutional administrative workloads by 59.5%, accessible patient-friendly educational materials by 51.4% and positive recommendations from colleagues by 45.9%. Even when hypothetically confronted with high administrative burden, 91.9% of the neurologists said they were likely or extremely likely to adopt or recommend gene therapy; 94.6% gave the same response to a scenario involving substantial economic impact. These figures measure stated intent rather than observed prescribing, so they do not establish how treatment would actually be used once costs, staffing and safety procedures become concrete. The contrast between high stated willingness and low confidence in the delivery system nevertheless identifies a practical gap between clinical interest and organizational execution.

Functional measurement was the only measured factor independently associated with high adoption intent. A total of 52 of the 53 participants recognized the Six-Minute Walk Test, or 6MWT, and pediatric neurologists rated it alongside the North Star Ambulatory Assessment as among the most relevant and feasible motor instruments in routine care. Ninety-six percent of neurologists with high adoption willingness regarded the 6MWT as both objective and sensitive to change, compared with 41.7% of those with lower willingness. In the multivariable model, this perception was the sole independent predictor of high adoption intent, with an odds ratio of 15.23 and a wide 95% confidence interval of 1.58 to 146.67. The result supports an association between assessment confidence and stated willingness in this sample; it does not establish that confidence in one test causes adoption. The broad interval also cautions against treating the precise odds ratio as a stable population estimate.

The 6MWT records the distance a patient can walk in six minutes, offering a quantifiable baseline and a way to track subsequent function. Yet more than 45% of pediatric neurologists answered “no opinion” when asked about the formal sensitivity to change and specificity of functional scales, revealing limited confidence in the technical properties of the measurement system. The authors warn that over-reliance on a single metric can overlook effort dependence and non-linear disease trajectories. A multidimensional assessment framework, using multiple complementary measures rather than dependence on one test, may therefore be important for clinical trials, long-term follow-up and reimbursement decisions. The survey did not evaluate which specific clinical endpoints, such as delayed loss of ambulation or respiratory preservation, clinicians considered most persuasive. Familiarity was also uneven across instruments: more than 90% of clinicians recognized the NSAA and 6MWT, while awareness of secondary tools among pediatric neurologists ranged from 78.4% to 83.8%.

The study also tested whether professional experience, attitudes or working conditions predicted readiness, and found no statistically significant links. Years managing DMD, neuromuscular specialization, patient volume, care-related regret, empathy, work engagement, burnout and openness to innovation did not distinguish neurologists with high and low adoption intent. Burnout was reported by 27.0%, and the mean evidence-based practice attitude score was 1.8 on a scale running from zero to four, but these measures did not explain therapeutic willingness. Descriptive differences in perceived utility or quality-of-life impact among pediatricians with higher and lower evidence-based practice scores were not statistically significant determinants in the model. The findings instead connect stated readiness with technical confidence in clinical assessment, while larger organizational determinants—such as budgets, leadership priorities and resource allocation—remained largely outside the survey’s scope.

Several limitations constrain what can be concluded. Recruitment through national professional societies and the predominance of tertiary hospitals likely favored clinicians working in relatively well-resourced settings, so the sample may not represent Spain’s full care network. Its modest size limited statistical power, especially for comparisons among professional groups, and the web-based design captured self-reported perceptions and hypothetical intentions rather than audited practice. Genetic counsellors, nurse coordinators, clinical geneticists, patient families and hospital executives were not included, and institutional budget allocation, organizational priorities and executive support were not directly evaluated. The study was funded by Roche Farma, Spain; several authors were company employees, and the principal author disclosed speaker honoraria and advisory roles involving Roche and other pharmaceutical companies, although the funder reported no role in study design, analysis, interpretation, writing or submission. The evidence therefore supports a picture of high theoretical receptivity accompanied by unresolved safety, logistical, financial and measurement gaps—not proof that widespread deployment is ready or inevitable.

Subject of Research: Healthcare-professional readiness, barriers and facilitators for adopting gene therapy in Duchenne muscular dystrophy

Article Title: Willingness to adopt gene therapy for Duchenne muscular dystrophy: barriers, facilitators, and multidisciplinary readiness

Article References: García-Uzquiano, R., Branas-Pampillón, M., Medina-Cantillo, J., García-Palop, B., Ruiz-Beato, E., Maurino, J., & Poveda-Andrés, J. L. (2026). Willingness to adopt gene therapy for Duchenne muscular dystrophy: barriers, facilitators, and multidisciplinary readiness. Frontiers in Medicine, 13, 1985172. https://doi.org/10.3389/fmed.2026.1985172

Image Credits: AI Generated

DOI: 10.3389/fmed.2026.1985172

Keywords: Duchenne muscular dystrophy, gene therapy, adeno-associated virus, healthcare readiness, patient safety, Six-Minute Walk Test, functional outcomes, health economics, multidisciplinary care, clinical implementation, Willingness, adopt