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ORPHA:700

Alopecia totalis

high confidenceDisorder

Publications

1,592

87.6th percentile

Trials

20

Interventional, condition-specific

Researchers

984

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

alopecia totalis

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,592 matched papers (1,063 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Vitiligo; Nail pits; Inflammation of the large intestine) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Diphenylcyclopropenone Source

  6. Interventional trialPresent

    20 matched on ClinicalTrials.gov (3 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0019080

  • Vitiligo
  • Nail pits
  • Inflammation of the large intestine
  • Fragile nails
  • Onycholysis

Showing 5 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA DiphenylcyclopropenoneTreatment of alopecia totalis · 29/06/2006 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

15

Drugs / clinical candidates · MONDO_0019080

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,592

1,592 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,592 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,063 in the last 10 years · high confidence · 87.6th percentile (publications denominator)

Phrase hits: 1,592 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

984

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    King B6 papers · 2026

    Department of Dermatology, Yale School of Medicine, New Haven, Connecticut. Electronic address: brett.aking@gmail.com.

    Papers in Europe PMC
  2. 02
    Wolk R6 papers · 2026

    Pfizer Inc., Groton, CT, USA.

    Papers in Europe PMC
  3. 03
    Guttman-Yassky E5 papers · 2026

    Department of Dermatology, and Laboratory of Inflammatory Skin Diseases, Icahn School of Medicine at Mount Sinai, 5 East 98th Street, New York, NY, 10029, USA. emma.guttman@mountsinai.org.

    Papers in Europe PMC
  4. 04
    Li J5 papers · 2026

    Skin Health Institute, Melbourne, Victoria, Australia.

    Papers in Europe PMC
  5. 05
    Mostaghimi A5 papers · 2025

    Department of Dermatology, Brigham and Women's Hospital, Boston, MA, USA.

    Papers in Europe PMC
  6. 06
    Napatalung L5 papers · 2025

    Pfizer Inc., 66 Hudson Blvd. East, New York, NY, 10001, USA.

    Papers in Europe PMC
  7. 07
    Sinclair R5 papers · 2026

    Sinclair Dermatology, East Melbourne, Victoria, Australia.

    Papers in Europe PMC
  8. 08
    Zhang J5 papers · 2026

    Department of Dermatology, The First Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.

    Papers in Europe PMC
  9. 09
    Shapiro J4 papers · 2025

    The Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, New York, New York.

    Papers in Europe PMC
  10. 10
    Tran H4 papers · 2026

    Pfizer Inc., 235 East 42nd St, New York, NY, 10017, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

20 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 501 trials are registered for alopecia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

high confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

20 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: alopecia

501

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Alopecia totalis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Alopecia totalis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Alopecia totalis"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 20 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"alopecia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:56:43.725Z