Working with DEB patients and HCP during the PSP has highlighted the large number of uncertainties about the treatment that both groups have and share.
The final workshop showed what were the main research needs shared by patients, carers and HCP. These were, in decreasing order of importance:
Wound care. This was a fundamental issue for patients, carers and HCPs and is the one with more unanswered questions about it.
Itch. It is an important issue for all participants, leading to important discomfort and decreased quality of life.
Pain. Pain is a big problem for DEB patients. It was felt by participants that part of it could be solved by proper application of current knowledge, and involvement of pain management specialists in DEB care. However, it was also felt that there are some questions about pain therapy that were specific for the disease, such as treatment of pain during baths or during cures, that might require specific research. (For example, some authors report decreased pain after adding salt to the bath water).
Neoplasms, especially issues of early detection and treating squamous cell carcinoma.
Syndactyly. There is a lack of knowledge about what the best method in preventing or delaying syndactyly is as well as in correcting syndactyly once it is established.
New therapies. There was a shared thought about the importance of investigating new therapies in order to discover a cure for the disease and also find new techniques such as genetic engineering that could offer betters outcomes in the most common signs and symptoms of DEB. However these were rated lower than research on everyday problems.
It is also important to mention the perceived need to demonstrate the usefulness of reference centers in decreasing complications and increasing quality of life in order to encourage health authorities to develop these centers.
We are aware of that some of the questions prioritized may be broad, representing areas of concern more than specific questions. This will be less useful for planning research on them but, because there are so many uncertainties in each field, all participants agreed that they preferred a final list of uncertainties that reflects their most relevant concerns even at the expense of being less specific. However we believe that these areas of concern can be easily transformed into more specific ones for research. For example, the question about the best therapy to relieve itch in DEB patients could lead to many different questions that should also be prioritized: such as “do DEB patients who take doxepin experience less itch than those who do not?” or “is gabapentine more effective than dronabinol in treating the itch among DEB patients? or maybe “do DEB patients who use topical corticosteroids experiment less itch than those do not?
To date, twenty PSP have been conducted by the James Lind Alliance, mainly about common disorders [23–25]. To the best of our knowledge, the DEB PSP is the first PSP conducted about a very rare disease. In this kind of diseases, due to its infrequency and scarce investment in research it is particularly important to prioritize uncertainties. The main difference between this PSP and the previous conducted by the JLA may be resumed in several points:
Firstly, the lower number of patients and stakeholders: These make it more difficult to identify them, but they are easier to contact.
There was also difficulty in defining and finding expert clinicians. Unlike in common disorders, where most doctors will be experienced, and it is easy to find experts, for rare disorders there are many doctors caring for very few patients and is hard to define who the expert clinicians are. In DEB there is an added difficulty, as they require many different experts, from psychologists to surgeons. We defined experts as those clinicians caring for more than 10 patients with the disorder. To find them we localized doctors of main reference centers and asked them to identify other experts, we asked patients and patient association to identify missing experts. We also did a Medline search looking for authors of papers on DEB describing more than 3 patients in our country. Using this combined strategy we think that we have identified most experts in our country, and that our sample is highly representative of them, as all identified experts have participated in the PSP.
Finally, given the scarcity of participants it was difficult to schedule a meeting with participants balanced in terms of age, sex and severity that they could all attend. Two of the participants could not be at the meeting, and has to participate remotely, via teleconference (using Skype®). For researchers planning other PSPs, it can be interesting to notice that remote participation with the help of a moderator was feasible (only one remote assistant per group and both in the final global discussion), and that those participants felt integrated in the discussion process.
One of the weaknesses of this PSP might be the low number of participants (patients, HCPs and organizations) compared to other PSPs, which might jeopardize its generalizability. This would be true in absolute terms but it is important to take into account that prevalence of DEB is very low (7 cases per million) , the number of associations is scant and there are no many HCPs experts in treating DEB patients. Due to this rarity it was easy to approach most of the patients (because DEB is such a devastating disease, most of the patients and carers are members of DEBRA Spain) and experts in Spain. This, added to a high response rate (40%) when compared to other PSPs, makes the results very likely of being representative of the treatment uncertainties among patients and HCPs.
This PSP has been conducted in Spain, with some help from James Lind Alliance and following their methods. We do not think that the uncertainties found or the priorities are country specific, and thus they can be generalized to most settings. However, international aspects of the prioritization process advocated by the James Lind Alliance are worth further study, both in terms of improving methods to make international collaboration easier and to study whether results are reproducible and can be generalized to other countries.