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ORPHA:443180

Spontaneous intracranial hypotension

high confidenceDisorder

Also known as: Spontaneous cerebrospinal fluid leak

Publications

2,391

89.4th percentile

Trials

5

Interventional, condition-specific

Researchers

887

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

spontaneous cerebrospinal fluid leak

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.”

2/6 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

    2,391 matched papers (1,454 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    5 matched on ClinicalTrials.gov (2 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

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?

2,391

2,391 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.

2,391 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).

1,454 in the last 10 years · high confidence · 89.4th percentile (publications denominator)

Phrase hits: 2,391 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

887

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
    Madhavan AA24 papers · 2026

    From the Department of Radiology (A.A.M., T.J.A.), Duke Health, Durham, North Carolina ajay.madhavan@duke.edu.

    Papers in Europe PMC
  2. 02
    Amrhein TJ16 papers · 2026

    From the Department of Radiology (A.A.M., T.J.A.), Duke Health, Durham, North Carolina.

    Papers in Europe PMC
  3. 03
    Beck J14 papers · 2026

    Department of Neurosurgery (J.B.), Medical Center-University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  4. 04
    Kranz PG14 papers · 2026

    From the Department of Radiology, Duke University Medical Center, Durham, North Carolina.

    Papers in Europe PMC
  5. 05
    Callen AL12 papers · 2026

    From the Department of Radiology (A.L.C., S.L.P.P., D.B., D.A.Z.), Neuroradiology Section, University of Colorado Anschutz Medical Campus, Aurora Colorado andrew.callen@cuanschutz.edu.

    Papers in Europe PMC
  6. 06
    Piechowiak EI11 papers · 2026

    Institute of Diagnostic and Interventional Neuroradiology (T.D., E.I.P.), Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.

    Papers in Europe PMC
  7. 07
    Dobrocky T10 papers · 2026

    Institute of Diagnostic and Interventional Neuroradiology (T.D., E.I.P.), Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.

    Papers in Europe PMC
  8. 08
    Gray L10 papers · 2026

    From the Department of Radiology, Duke University Medical Center, Durham, North Carolina.

    Papers in Europe PMC
  9. 09
    Lützen N10 papers · 2026

    From the Department of Neuroradiology (N.L., C.Z., H.U.), Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany niklas.luetzen@uniklinik-freiburg.de.

    Papers in Europe PMC
  10. 10
    Malinzak MD10 papers · 2026

    From the Department of Radiology, Duke University Medical Center, Durham, North Carolina.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

high confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Spontaneous intracranial hypotension — 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.

"Spontaneous intracranial hypotension" OR "Spontaneous cerebrospinal fluid leak"

Run this search on Europe PMC

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

"Spontaneous intracranial hypotension" OR "Spontaneous cerebrospinal fluid leak"

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: 5 interventional · 5 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

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 2026-07-27T16:25:45.424Z