RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:91546

Lyme disease

medium confidenceDisorder

Also known as: Lyme borreliosis

Publications

48,345

98.7th percentile

Trials

60

Interventional, condition-specific

Researchers

1,170

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.

How rare: >1 / 1000

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Borrelia · Borrelia burgdorferi infection · Borreliella burgdorferi caused disease or disorder · Borreliella burgdorferi disease or disorder · Borreliella burgdorferi infectious disease

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.”

3/6 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

    48,345 matched papers (21,835 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Meningitis; Dermal atrophy; Amaurosis fugax) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    60 matched on ClinicalTrials.gov (15 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)

26

Associated phenotypes · MONDO:0019632

  • Meningitis
  • Dermal atrophy
  • Amaurosis fugax
  • Insomnia
  • Photophobia

Showing 5 of 26 — 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0019632

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

48,345

48,345 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

48,345 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).

21,835 in the last 10 years · medium confidence · 98.7th percentile (publications denominator)

Phrase hits: 48,345 · MeSH hits: 886

Open Europe PMC search

Who's working on it?

1,170

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
    Jaulhac B12 papers · 2026

    French National Reference Center for Borrelia, Hôpitaux Universitaires de Strasbourg, Institut de Bactériologie, Fédération de Médecine Translationnelle de Strasbourg University of Strasbourg, UR3073 PHAVI, France.

    Papers in Europe PMC
  2. 02
    Fingerle V11 papers · 2026

    Bavarian Health and Food Safety Authority, German National Reference Center for Borrelia, Veterinärstraße 2, 85764 Oberschleissheim, Germany. Electronic address: Volker.Fingerle@LGL.Bayern.de.

    Papers in Europe PMC
  3. 03
    Henningsson AJ10 papers · 2026

    Clinical Microbiology, Region Jönköping County, and Division of Inflammation and Infection, Department of Biomedical and Clinical Sciences, Linköping University, Sweden.

    Papers in Europe PMC
  4. 04
    Raffetin A8 papers · 2026

    Department of Infectious Diseases, Reference Center for Tick-Borne Diseases, Paris and Northern Region, General Hospital of Villeneuve-Saint-Georges, 40 Allée de La Source, 94190, Villeneuve-Saint-Georges, France. alice.raffetin@chiv.fr.

    Papers in Europe PMC
  5. 05
    Strle F8 papers · 2026

    Department of Infectious Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia.

    Papers in Europe PMC
  6. 06
    Lindgren PE7 papers · 2026

    Clinical Microbiology, Region Jönköping County, and Division of Inflammation and Infection, Department of Biomedical and Clinical Sciences, Linköping University, Sweden.

    Papers in Europe PMC
  7. 07
    Margos G7 papers · 2026

    Bavarian Health and Food Safety Authority, German National Reference Center for Borrelia, Veterinärstraße 2, 85764 Oberschleissheim, Germany. Electronic address: Gabriele.Margos@lgl.bayern.de.

    Papers in Europe PMC
  8. 08
    Stark JH6 papers · 2026

    Global Vaccines, and Anti-infectives Medical Affairs, Pfizer Inc., 1 Portland Street, Cambridge, MA 02139, USA. Electronic address: james.h.stark@pfizer.com.

    Papers in Europe PMC
  9. 09
    Baux E5 papers · 2025

    Department of Infectious Diseases, Reference Center for Tick-Borne Diseases, Eastern Region, University Hospital of Nancy, Nancy, France.

    Papers in Europe PMC
  10. 10
    Hansmann Y5 papers · 2026

    Department of Infectious Diseases, University Hospital of Strasbourg 67000 Strasbourg, France; University of Strasbourg, Translational Medicine Federation, EA 7290, Virulence Bactérienne Précoce, F-67000 Strasbourg, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

60

interventional trials for this specific condition

60 interventional trials matched this specific condition name; 15 currently recruiting in our sample.

Data as of 11 September 2026

60 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.6th percentile).

medium confidence · 97.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

42 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 39 · after dedupe 39 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 39 · dropped 0 · fetched 2026-07-30

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 (39)

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 Lyme disease — 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.

"Lyme disease" OR "Lyme borreliosis" OR "Borrelia" OR "Borrelia burgdorferi infection" OR "Borreliella burgdorferi infectious disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lyme Disease

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

"Lyme disease" OR "Lyme borreliosis" OR "Borrelia" OR "Borrelia burgdorferi infection" OR "Borreliella burgdorferi infectious disease"

Interventional trials matched via: both, 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: 60 interventional · 42 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: Borreliella burgdorferi caused disease or disorder; Borreliella burgdorferi disease or disorder

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T04:05:10.357Z