Natural History and Pathogenesis of Alopecia in Children and Adults
Study Details
Study Description
Brief Summary
Background:
Alopecia is the loss of hair or lack of hair growth. It is often related to an immune disorder that disrupts the growth of hair. Hair loss can affect a person s physical and mental health. The causes of alopecia are not well understood. This natural history study will examine causes of alopecia so better treatments can be developed.
Objective:
To learn why some people have alopecia. This study will look at factors related to genes, the immune system, and the bacteria, viruses, and fungi that live on the skin.
Eligibility:
People aged 2 to 45 years with immune-mediated alopecia that affects 50% of their scalp hair.
Design:
Participants will have at least 1 visit to the clinic. Some will have follow-up visits once a year for up to 5 years. Each visit will last 2 to 4 hours.
Participants will have a physical exam. They will have blood drawn from a vein. They will answer questions about the medications they take, their allergies, and their family history. Photographs of their skin and scalp will be taken. Soft cotton swabs will be rubbed on their skin to pick up organisms that live there.
Two pieces of skin from the scalp will be cut away. The pieces will be no more than a quarter of an inch in size. The area will first be numbed with an injectable anesthetic. The wound will be closed with stitches or gel foam. The biopsy is optional in children younger than 12.
Participants will take a questionnaire about how hair loss affects their quality of life.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
Study Description:
This is a study to detail the characteristics (genetic, immunologic, biological and demographic) of individuals who present in childhood and adulthood with alopecia and how alopecia impacts skin and systemic symptoms.
Objectives:
Primary objective: Comprehensively evaluate patients with immune mediated alopecia from clinical, microbiome, immunologic and genetic standpoint to understand the factors that contribute to clinical phenotypes.
Secondary objective: To follow patients with immune-mediated alopecia to see how disease impacts local skin microbiome, immune system changes and autoimmune and other comorbidities.
Tertiary objectives: To develop prognostic biomarkers that help predict the risk of severity and progression in patients with alopecia.
Endpoints:
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Record demographics including age, sex, age of onset, severity of disease based on clinical examination, concomitant autoimmune disease, personal history of other medical disease including anxiety and depression, family history of autoimmune and medical disease
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Whole genome sequencing to identify variations in the protein-coding region of any gene that may be disease causing
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Assess peripheral blood and local scalp skin to assess immunogenicity of disease by using leukocyte subset analysis using flow cytometry, markers of disease using cytokine signaling assays, and single cell RNA sequencing
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Define skin microbiome using sequencing at baseline and with time.
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Identify potential biomarkers of disease progression or severity that may impact therapeutic choices
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Patient Male and female ages 2-45 years old |
Outcome Measures
Primary Outcome Measures
- Describe the natural history of alopecia based on demographics, whole exome sequencing, and microbiome and immunologic signals [5 years]
Secondary Outcome Measures
- Explore immune system, microbiome signals during flares and quiescence as well as during therapy [5 years]
Eligibility Criteria
Criteria
- Children and adults ages 2 to 45 years with diagnosis of Alopecia
INCLUSION CRITERIA:
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
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Stated willingness to comply with study procedures including skin biopsy of the scalp (except in those under the age of 12 years) and availability for the duration of the study
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Willing to avoid using antibacterial cleansers for 1 week prior to sampling
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Male or female, aged 2-45 years (child (2-11), adolescence (12-17), young adult (18-45)
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Clinical Diagnosis of immune- mediated alopecia
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Ability of subject or Parent/legal guardian to understand and the willingness to sign a written informed consent document.
EXCLUSION CRITERIA:
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Non-immune mediated alopecia including androgenetic alopecia, radiation induced alopecia, trauma induced alopecia, chemotherapy induced alopecia
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Concomitant medical, surgical, or other conditions for which adequate facilities or funds are not available to support their care at the NIH.
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Any other co-existing condition/circumstances that would make a subject unsuitable to participate in the study, as deemed by the investigators.
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Pregnant women
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | National Institutes of Health Clinical Center | Bethesda | Maryland | United States | 20892 |
Sponsors and Collaborators
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Investigators
- Principal Investigator: Leslie A Castelo-Soccio, M.D., National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 10000827
- 000827-AR