Natural History and Pathogenesis of Alopecia in Children and Adults

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 years and older 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.

Study Overview

• Status: Completed
• Conditions: Hair Loss

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:

1. 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
2. Whole genome sequencing to identify variations in the protein-coding region of any gene that may be disease causing
3. 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
4. Define skin microbiome using sequencing at baseline and with time.
5. Identify potential biomarkers of disease progression or severity that may impact therapeutic choices

• Study Type: Observational
• Enrollment (Actual): 39

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 120 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Individuals who present in childhood and adulthood with alopecia.

Description

• INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

1. 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
2. Willing to avoid using antibacterial cleansers for 1 week prior to sampling
3. Male or female, aged 2 years and older
4. Clinical Diagnosis of immune- mediated alopecia
5. Ability of subject or Parent/legal guardian to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

1. Non-immune mediated alopecia including androgenetic alopecia, radiation induced alopecia, trauma induced alopecia, chemotherapy induced alopecia
2. Concomitant medical, surgical, or other conditions for which adequate facilities or funds are not available to support their care at the NIH.
3. Any other co-existing condition/circumstances that would make a subject unsuitable to participate in the study, as deemed by the investigators.
4. Pregnant women

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patient; Male and female ages 2-45 years old

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Describe the natural history of alopecia based on demographics, whole exome sequencing, and microbiome and immunologic signals	5 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Explore immune system, microbiome signals during flares and quiescence as well as during therapy	5 years

Collaborators and Investigators

• Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Investigators: Principal Investigator: Heidi H Kong, M.D., National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): September 19, 2022
• Primary Completion (Actual): January 22, 2025
• Study Completion (Actual): January 23, 2025

Study Registration Dates

• First Submitted: August 13, 2022
• First Submitted That Met QC Criteria: August 15, 2022
• First Posted (Actual): August 16, 2022

Study Record Updates

• Last Update Posted (Actual): June 5, 2026
• Last Update Submitted That Met QC Criteria: June 4, 2026
• Last Verified: June 3, 2026

More Information

Terms related to this study

• Keywords: Natural History; Autoimmune Disease; Skin Conditions
• Additional Relevant MeSH Terms: Pathological Conditions, Anatomical; Immune System Diseases; Hypotrichosis; Hair Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Alopecia; Autoimmune Diseases; Skin Diseases
• Other Study ID Numbers: 10000827; 000827-AR

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No