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ORPHA:441

Pure autonomic failure

medium confidenceDisorder

Also known as: Bradbury-Eggleston syndrome · Idiopathic orthostatic hypotension · PAF · Pure dysautonomia · Pure idiopatic dysautonomia

Publications

1,744

86.6th percentile

Trials

20

Interventional, condition-specific

Researchers

882

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare sporadic neurodegenerative disease characterized by slowly symptoms of orthostatic hypotension (OH), and other symptoms of generalised dysautonomia related to the impairment of the sympathetic component of the autonomic nervous system.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Bradbury Eggleston syndrome · idiopathic orthostatic hypotension

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

    1,744 matched papers (817 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Orthostatic hypotension; Abnormal circulating catecholamine concentration; Abnormal autonomic nervous system physiology) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

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

  6. Interventional trialPresent

    20 matched on ClinicalTrials.gov (5 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)

10

Associated phenotypes · MONDO:0018608

  • Orthostatic hypotension
  • Abnormal circulating catecholamine concentration
  • Abnormal autonomic nervous system physiology
  • Constitutional symptom
  • Urinary incontinence

Showing 5 of 10 — 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

  • FDA droxidopa (NORTHERA)ORTHOSTATIC HYPOTENSION Autonomic neuropathy Autonomic failure hydroxylase deficiency · 2007-01-17

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,744

1,744 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.

1,744 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).

817 in the last 10 years · medium confidence · 86.6th percentile (publications denominator)

Phrase hits: 1,744 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

882

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
    Goldstein DS18 papers · 2026

    Clinical Neurocardiology Section, Clinical Neurosciences Program, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 9000 Rockville Pike MSC-1620, Building 10 Room 8N260, Bethesda, MD, 20892-1620, USA. goldsteind@ninds.nih.gov.

    Papers in Europe PMC
  2. 02
    Singer W14 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA. singer.wolfgang@mayo.edu.

    Papers in Europe PMC
  3. 03
    Coon EA10 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, MN (G.L., E.A.C., M.D.S., P.S., E.B., J.K.C.-G., M.L.M., S.E.B., K.S., D.S., P.A.L., W.S.).

    Papers in Europe PMC
  4. 04
    Kaufmann H10 papers · 2026

    Department of Neurology, New York University Grossman School of Medicine, New York.

    Papers in Europe PMC
  5. 05
    Low PA10 papers · 2025

    Department of Neurology, Mayo Clinic, Rochester, MN (G.L., E.A.C., M.D.S., P.S., E.B., J.K.C.-G., M.L.M., S.E.B., K.S., D.S., P.A.L., W.S.).

    Papers in Europe PMC
  6. 06
    Freeman R9 papers · 2026

    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02446, USA.

    Papers in Europe PMC
  7. 07
    Holmes C9 papers · 2026

    Autonomic Medicine Section, Clinical Neurosciences Program, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland; and.

    Papers in Europe PMC
  8. 08
    Sullivan P8 papers · 2026

    Autonomic Medicine Section, Clinical Neurosciences Program, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive MSC-1620, Building 10 Room 8N260, Bethesda, MD, 20892-1620, USA.

    Papers in Europe PMC
  9. 09
    Biaggioni I7 papers · 2026

    Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

    Papers in Europe PMC
  10. 10
    Lamotte G7 papers · 2024

    Department of Neurology, University of Utah, Salt Lake City, UT, USA. guillaumelamotte14@gmail.com.

    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; 5 currently recruiting in our sample.

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).

medium 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.

Observational and natural-history studies

7 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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)

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 Pure autonomic failure — 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.

"Pure autonomic failure" OR "Bradbury-Eggleston syndrome" OR "Idiopathic orthostatic hypotension" OR "Pure dysautonomia" OR "Pure idiopatic dysautonomia" OR "Bradbury Eggleston syndrome"

Run this search on Europe PMC

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

"Pure autonomic failure" OR "Bradbury-Eggleston syndrome" OR "Idiopathic orthostatic hypotension" OR "Pure dysautonomia" OR "Pure idiopatic dysautonomia" OR "Bradbury Eggleston syndrome"

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 · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PAF

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:51:03.946Z