LONDON – More than £2.8 million (RDEB), according to a report at the EB World Congress, organized by the Dystrophic Epidermolysis Bullosa Association (DEBRA).
Dr. Jemima Mellerio
Results from the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES), which is looking at the natural history of RDEB, showed that wound dressing and bandage costs were highest for study participants with the generalized severe (RDEB-GS) subtype, at just over £85,156 (about $112,450) per patient annually. Respective yearly costs for the generalized intermediate (RDEB-GI) and inversa (RDEB-INV) subtypes were £10,112 (about $13,350) and £1,699 (about $2,240) per patient.
Looking at the costs associated with EB is important, said one of the lead investigators for PEBLES, Jemima Mellerio, MD, FRCP, consultant dermatologist at St John’s Institute of Dermatology, at Guy’s & St. Thomas’ NHS Foundation Trust, London.
“If we are going to justify the kind of expenditure [associated with new treatments], we need to know that what we are treating is already a significant burden on our health care systems,” Dr. Mellerio said.
PEBLES is an ongoing London-based registry study that is enrolling patients with all subtypes of RDEB. Data are collected via a tablet device and include demographic data, information on clinical features, results of skin biopsies and genetic tests, and laboratory findings, as well as objective disease severity and subjective patient-orientated outcome scores.
So far, 60 patients – 49 adults and 11 children – have been enrolled in PEBLES since November 2014: 26 with RDEB-GS, 23 with RDEB-GI, 9 with RDEB-INV, and 2 with the pruriginosa RDEB subtype (RDEB-PR).
Most of the participants (71%) changed all their wound dressings at one time, patching up when required. Fourteen of 49 participants had paid people to help them change their dressings and when the total cost of combined wound dressings and paid care was taken into consideration, the mean annual cost per patient was around £2,500 (about $3,300) for RDEB-INV, £10,375 (about $13,700) per patient for RDEB-GS, and a staggering £98,000 (about $129,000) per patient for RDEB-GS. The total annual cost of dressings and associated care was an estimated £3,184,229 (about $4.2 million).
In addition to data on the cost of wound dressings, data on itch and pain and quality of life were presented at the EB World Congress and discussed by Dr. Mellerio.
A total of 42 participants older than 8 years of age had itch measured via the Leuven Itch Scale, she reported, noting that itch was a consistent symptom across all subtypes of RDEB. Itch is important as it not only causes problems with skin lesions and healing, but also significantly affects sleep and has a negative impact on patients’ mood, she emphasized.
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Despite experiencing itch, more than half (58%) of participants were not using any kind of treatment for itch. This “likely reflects the lack of effectiveness of current medication for this debilitating symptom,” Dr. Mellerio and associates noted in one of their poster presentations of PEBLES data.
When treatment was used for itch, it consisted mainly of antihistamines (19% of patients), emollients (19%), or a combination of both (4%). However, treatment was generally “not very good,” with a satisfaction score of just 5 on a scale of 10, Dr. Mellerio pointed out. Participants “reported frustration with the lack of effective treatment for itch,” she said.
Itch was associated with disturbed sleep 1-3 nights per week in 20%-40% of participants, and every night in 20%-30%.
Pain was found to be a significant problem, with a median level of background pain scored as 4 on a 10-cm visual analog scale and a higher level (6) when associated with dressing changes.
Data on how RDEB affected quality of life were reported for 39 adults completing the 17-item Quality of Life in EB Questionnaire (QOLEB) and eight children who were able to complete the Pediatric Quality of Life Inventory (PedsQL) with the aid of their parents.
Dr. Mellerio reported that adults with RDEB-GS had an overall QOLEB score of 24 out of 50, an indication that their condition had a severe impact on their quality of life. The effect on quality of life was greater in terms of their physical functioning than emotional well-being, with respective scores of 19 out of 36, and 5 out of a possible 15. Less impact on quality of life was reported by participants with other RDEB subtypes.
PedsQL scores for the children indicated there might be a lesser effect of physical functioning on quality of life but a greater effect of emotional well-being on quality of life, but the numbers were small. “Interestingly, parents tended to rate their children’s impact on quality of life much higher than the children themselves,” Dr. Mellerio said.
The point of PEBLES is to start to understand the natural history of RDEB and to identify endpoints that might help in clinical trials of potential new treatments. Discussing the next steps for PEBLES, Dr. Mellerio said the aim was to recruit more pediatric patients and look at other data sets, such as bone health. The PEBLES team also hopes to extend recruitment to include other United Kingdom, and ultimately international, EB centers and, perhaps eventually to start to include other types of EB, such as EB simplex.
PEBLES is funded by DEBRA UK. Dr. Mellerio is a PEBLES investigator but had no conflicts of interest to disclose.
SOURCE: Mellerio JE et al. EB 2020. Pillay EI et al. Poster 77; Jeffs E et al. Poster 74; Jeffs et al. Poster 75. https://ebworldcongress.org/.