BackgroundLittle information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.MethodsA 90-question/item survey was developed to collect demographics, diagnostic data, management practices, and burden of illness information for patients with epidermolysis bullosa living in the United States. Recruitment was conducted via email and social media in partnership with epidermolysis bullosa patient advocacy organizations in the United States, and the survey was conducted via telephone interview by a third-party health research firm. Respondents aged ≥ 18 years with a confirmed diagnosis of epidermolysis bullosa or caring for a patient with a confirmed diagnosis of epidermolysis bullosa were eligible to participate in the survey.ResultsIn total, 156 responses were received from patients (n = 63) and caregivers (n = 93) representing the epidermolysis bullosa types of simplex, junctional, and dystrophic (subtypes: dominant and recessive). A large proportion of patients (21%) and caregivers (32%) reported that the condition was severe or very severe, and 19% of patients and 26% of caregivers reported a visit to an emergency department in the 12 months prior to the survey. Among the types/subtypes represented, recessive dystrophic epidermolysis bullosa results in the greatest wound burden, with approximately 60% of patients and caregivers reporting wounds covering > 30% of total body area. Wound care is time consuming and commonly requires significant caregiver assistance. Therapeutic options are urgently needed and reducing the number and severity of wounds was generally ranked as the most important treatment factor.ConclusionsSurvey responses demonstrate that epidermolysis bullosa places a considerable burden on patients, their caregivers, and their families. The limitations caused by epidermolysis bullosa mean that both patients and caregivers must make difficult choices and compromises regarding education, career, and home life. Finally, survey results indicate that epidermolysis bullosa negatively impacts quality of life and causes financial burden to patients and their families.

Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these diseases have no treatments, are incurable, and have a devastating impact on patients and their families. Regulatory standards for drug approval for rare diseases must ensure that patients receive safe and efficacious treatments. However, regulatory bodies have shown flexibility in applying these standards to drug development in rare diseases, given the unique challenges that hinder efficient and effective traditional clinical trials, including low patient numbers, limited understanding of disease pathology and progression, variability in disease presentation, and a lack of established endpoints.To take steps toward improving rare disease clinical development strategies under current global regulatory statutes, Amicus Therapeutics, Inc. and BioNJ convened a 1-day meeting that included representatives from the Food and Drug Administration (FDA), biopharmaceutical industry, and not-for-profit agencies. The meeting focused on orphan diseases in pediatric and adult patients and was intended to identify potential strategies to overcome regulatory hurdles through open collaboration.During this meeting, several strategies were identified to minimize the limitations associated with low patient numbers in rare diseases, including the use of natural history to generate historical control data in comparisons, simulations, and identifying inclusion/exclusion criteria and appropriate endpoints. Novel approaches to clinical trial design were discussed to minimize patient exposure to placebo and to reduce the numbers of patients and clinical trials needed for providing substantial evidence. Novel statistical analysis approaches were also discussed to address the inherent challenges of small patient numbers. Areas of urgent unmet need were identified, including the need to develop registries that protect patient identities, to establish close collaboration and communication between the sponsor and regulatory bodies to address methodological and statistical challenges, to collaborate in pre-competitive opportunities within multiple sponsors and in conjunction with academia and disease-specific patient advocacy groups for optimal data sharing, and to develop harmonized guidelines for data extrapolation from source to target pediatric populations. Ultimately, these innovations will help in solving many regulatory challenges in rare disease drug development and encourage the availability of new treatments for patients with rare diseases.

background. Selective nonablative wrinkle reduction with low-fluence pulsed dye laser has been shown to provide cosmetic benefits by stimulating the production of dermal collagen. The clinical efficacy for improving the appearance of acne scarring using selective nonablative laser treatments has yet to be established. objective. To evaluate the improvement in the appearance and topography of acne scarring following application of a 585 nm pulsed dye laser with a temporal profile and pulse duration designed specifically to target healthy microvasculature in the dermis. methods. Ten patients (mean age 34.8 years) with Fitzpatrick skin types I-IV and shallow to moderately deep, saucerized facial acne scars were enrolled in a prospective trial to receive a single laser treatment of both cheeks. Patients were evaluated at 30, 60, 90, and 120 days to assess the degree of clinical improvement. The evaluation process included assessment of preand posttreatment photography by two independent observers, patient assessment surveys, and surface profilometry using silicone imprints in order to quantify the degree of clinical improvement. results. All 10 patients reported visible cosmetic improvement in the treated areas while surface profilometry showed that, on average, the depth of the acne scars was reduced by 47.8%. No adverse effects of this treatment were reported. conclusion. The treatment of acne scars utilizing a 585 nm pulsed dye laser with a temporal profile and pulse duration designed specifically to target healthy microvasculature in the dermis may be a safe and effective noninvasive alternative for a natural result.

The treatment of acne scars utilizing a 585 nm pulsed dye laser with a temporal profile and pulse duration designed specifically to target healthy microvasculature in the dermis may be a safe and effective noninvasive alternative for a natural result.

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