The PTC124 (Ataluren) Clinical Trial for Duchenne Muscular Dystrophy: Exploration of the Experiences of Parents, Clinician Researchers, and the Industry Sponsor

Some aspects of the traditional process for the development of new potential therapeutics for
rare disorders and the ensuing research on safety and efficacy are changing. This is due, in
part, to the increased ability of families, parents, individuals with rare disorders, and
advocacy organizations to access and control information, to provide monetary or other
incentives, and to communicate directly with biopharmaceutical companies and clinical
investigators. Increasingly, advocacy organizations (and by extension, the families they
serve) create or participate in disorder registries intended to facilitate research by
industry and access of families to clinical trials; fund promising bench and clinical
research; and lobby for outcomes beneficial to drug developers and researchers, such as
increased funding or facilitated FDA approval. The involvement of families in the research
process is likely to have implications for how willing individuals are to participate in
studies, their expectations and perceptions of the study experience, and their behavior
during the study. Their increased level of involvement may also affect how families perceive
and respond to a clinical trial in which the results are not as promising as hoped, as
quickly as hoped. This partnership approach has implications for biopharmaceutical companies
who sponsor treatment trials and for clinical investigators who lead and implement the
trials. This qualitative interview study aims to describe, from the perspectives of parents
of children involved in a clinical trial, research clinicians implementing the trial, and the
company sponsoring the trial, the experience of this new, more collaborative research
process. In this case, we will examine the Ataluren trial for Duchenne muscular dystrophy.
The results from this study are hypothesis-generating for downstream research and can inform
biopharmaceutical companies and clinician researchers as they plan and implement clinical
trials for rare disorders and help guide advocacy groups and parent advocates as they partner
with researchers and industry.

- INCLUSION CRITERIA:

- US residents over 18 years of age who have at least one child with Duchenne Muscular
Dystrophy who was enrolled in the phase IIa extension trial or phase IIb trial of
PTC124. Participants must be a primary caregiver for their children, must have been
involved in deciding whether the child would participate in the clinical trial, and
must have accompanied their child to at least one visit to the clinical trial site.

- Clinician researchers over 18 years of age who were involved with implementing the
clinical trial at a study site.

- Representatives of PTC Therapeutics over 18 years of age.

All participants must be willing and able to complete an approximately 1-hour long
telephone interview in English.

EXCLUSION CRITERIA:

-Must meet inclusion criteria.