PeDRA

Pediatric Dermatology Research Alliance

Active Studies

COVID Acral Ischemia/Perniosis in children

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Please help us collect important information. This is a survey for all health care professionals taking care of children who have developed acral ischemia/pernio or pernio-like changes in the setting of COVID-19 exposure. We are aware that the AAD is also collecting cases of dermatological changes in the setting of COVID and encourage you to fill out the AAD survey as well.

This survey will collect data only on acral changes noted in the pediatric population. The case report form should take 10 minutes to complete and there is a space for all comments at the end of the survey. There are no required elements so please complete as much as you can. No patient identifiers will be collected. We will collect your name and email address (if you volunteer this information) so we may contact you if we have any questions. All data will be de-identified and be kept confidential and stored on a secure REDCap server at the Children’s Hospital of Philadelphia. Researchers involved in data analysis will be allowed access to this data. This study tool/ survey was reviewed by the Institutional Review Board at Children’s Hospital of Philadelphia (IRB 20-017553) and an exemption was granted.

The registry can be completed by health care professionals from all over the United States and all countries. Patients should not enter their own cases.

Case REport Form

Please contact Leslie Castelo-Soccio, MD, PhD at castelosocciol@email.chop.edu with any questions.

Quality of Life of Parents with Children with Alopecia Areata

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Principal Investigator:

Leslie Castelo-Soccio, MD, PhD
Children’s Hospital of Philadelphia

Overview:

Alopecia areata (AA) is an autoimmune disease resulting in non-scarring hair loss of hair-bearing areas, most frequently the scalp with a lifetime incidence of 1-2%. There is no sex predominance and it occurs in all parts of the world.  In the united states it accounts for 2.4 million doctor visits per year.   The more severe variants alopecia totalis (AT) and alopecia universalis (AU) lead to more extensive hair loss .  Due to its visibility, lack of curative therapy, and chronic nature, alopecia areata can create a significant psychosocial burden on patients who suffer from the disease. Though many studies have been conducted to determine psychosocial impact from the patient perspective, caregiver-oriented research is lacking. When available, clinicians could use information from such quality of life (QoL) tools to guide management and tailor support and education for patients and their families.

This was a multi-center, prospective study examining the impact on QoL of parents with children affected by alopecia areata. The overall goal was to quantitatively evaluate impairment in QoL in parents of children with AA. Secondary objectives were to investigate the relationship between scores on QoL tools and severity of disease, child’s QoL, and time since diagnosis.

Status:

This study was funded as a 2017 PeDRA Pilot Grant and is complete, with one publication resulting in 2019 (see publications page).

Genomic and Non genomic Causes of Segmental Pigmentation Disorder

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Principal Investigator:

Marcia Hogeling, MD
University of California, Los Angeles

Overview:

Segmental Pigmentation Disorder (SegPD) is an uncommon skin condition affecting young children. Segmental Pigmentation Disorder consists of white and brown pigmented birthmarks that appear as large patches on the body. The underlying cause of Segmental Pigmentation Disorder is not known, but it suspected to be due to genetic changes in these different areas of skin color, in the way that the skin cells produce pigment. The purpose of this study is to search for the cause of SegPD, by performing genetic testing of skin samples. Knowing the underlying cause of SegPD will allow us to better explain this skin problem to parents, and make informed recommendations on screening, monitoring and possibly treatments. Many birthmarks in children have the same mutations seen in cancer, and we think our study also might contribute to cancer research if SegPD has these mutations.

Status:

This study was funded as a 2018 PeDRA Pilot Grant and is currently underway.

Genetic Variations in Non-coding Regulatory Regions in Linear Morphea

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Principal Investigator:

Dawn Eichenfield, MD, PhD
University of California, San Diego

Overview:

Morphea is an inflammatory skin condition leading to hardened, discolored, and ultimately, scarred skin. It has several different presentations. Linear morphea commonly appears in children as a depressed or bound-down line on the forehead or extremity. Exactly why morphea occurs is unknown; however, studies suggest it is caused by a combination of genetic and environmental factors. Our research aims to uncover the genetic causes of linear morphea. Where our study differs from prior studies is the focus on studying parts of the genome that do not code for proteins, but instead are involved in regulating when or how genes are active. It is only recently that we realized the importance and disease relevance of these “non-coding” portions and could feasibly study their effects. Our project will utilize the latest sequencing technologies to investigate genetic mutations in morphea that can lead to improved diagnosis and earlier treatment.

Status:

This study was funded as a 2018 PeDRA Pilot Grant and is currently underway.

Fecal Microbiome in Alopecia Areata

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Principal Investigator:

Leslie Castelo-Soccio, MD, PhD
Children’s Hospital of Philadelphia

Overview:

Alopecia areata is an autoimmune disease that leads to hair loss. There is no approved therapy for this stigmatizing disease. Current off-label immune suppressive therapies can put children at short-term risk for infection and long-term risk for malignancy. In other similar autoimmune diseases, there has been increasing evidence that altering the bacteria of the gastrointestinal tract may mitigate disease. There is no specific data on the microbiome in individuals with alopecia areata. We propose to create a database of stool samples from children with and without alopecia areata. We will then analyze the genetics of the stool to classify the diversity and type of bacteria in the samples of children with alopecia and without alopecia. We expect to see differences between these populations. Longer term, we aim for this pilot to become the basis for novel interventional studies creating complementary therapeutics for pediatric alopecia areata.

Status:

This study was funded as a 2018 PeDRA Pilot Grant and is currently underway.

Systemic Treatment of Atopic Dermatitis

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Principal Investigator:

Wynnis Tom, MD
UCSD

Overview:

This is a prospective, observational study of traditional systemic agents for severe, refractory atopic dermatitis in children. We are comparing the efficacy and safety of oral cyclosporine, azathioprine, mycophenolate mofetil, and methotrexate, guided by consensus-derived dosing and administration protocols.

Status:

Enrollment underway.

Sun Protection for Pediatric Rheumatology Patients

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Principal Investigator:

Irene Lara-Corrales, MD – University of Toronto

Overview:

This is a survey study in collaboration with the Childhood Arthritis and Rheumatology Research Alliance (CARRA). Pediatric rheumatologists and pediatric rheumatology patients will be surveyed about the sun protection knowledge to identify practice gaps and target areas for education.

Status:

Survey instrument is in late stages of development and almost ready to be deployed.

Retrospective Review of Topical Immunotherapy for Alopecia Areata

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Principal Investigator:

Nanette Silverberg, MD
Mount Sinai Health System

Overview:

Alopecia areata (AA) is an autoimmune disease resulting in non-scarring hair loss of hair-bearing areas, most frequently the scalp with a lifetime incidence of 1-2%. This is a registry study intended to help us learn more about the use of topical immunotherapy for AA.

Status:

Enrolling patients.