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ORPHA:102

Multiple system atrophy

medium confidenceDisorder

Also known as: MSA · Multisystem atrophy

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

18,435

98.7th percentile

Trials

135

Interventional, condition-specific

Researchers

1,389

Distinct authors in sample

Gene link

COQ2

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.

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 (2)

Shy-Drager syndrome · multisystem atrophy

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 identifiedPresent

    Moderate — COQ2

  2. LiteraturePresent

    18,435 matched papers (11,232 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    135 matched on ClinicalTrials.gov (41 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?

Probably — there is moderate evidence for COQ2.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

18,435

18,435 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=5449) is 41.

18,435 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

11,232 in the last 10 years · medium confidence · 98.7th percentile (publications denominator)

Phrase hits: 18,435 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,389

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
    Fanciulli A8 papers · 2026

    Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  2. 02
    Wang H8 papers · 2026

    Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

    Papers in Europe PMC
  3. 03
    Goldstein DS6 papers · 2026

    Clinical Neurosciences Program, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Meissner WG6 papers · 2026

    CNRS, Institut Des Maladies Neurodégénératives, UMR 5293, Université de Bordeaux, 33000, Bordeaux, France. wassilios.meissner@chu-bordeaux.fr.

    Papers in Europe PMC
  5. 05
    Zhang Y6 papers · 2026

    Sleep Medicine Center, Mental Health Center, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  6. 06
    Freeman R5 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Kaufmann H5 papers · 2026

    Department of Neurology, Dysautonomia Center, New York University Grossman School of Medicine, New York, New York, USA.

    Papers in Europe PMC
  8. 08
    Kim HJ5 papers · 2026

    Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea. movement@snu.ac.kr.

    Papers in Europe PMC
  9. 09
    Liu J5 papers · 2026

    National Clinical Research Center for Geriatric Disorders, Xuanwu Hospital of Capital Medical University, Beijing, China.

    Papers in Europe PMC
  10. 10
    Rascol O5 papers · 2026

    Department of Clinical Pharmacology and Neurosciences, University of Toulouse 3, Hôpital Pierre Paul Riquet, Toulouse University Hospital, Place du Dr Baylac, 31059, Toulouse, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

135

interventional trials for this specific condition

135 interventional trials matched this specific condition name; 41 currently recruiting in our sample.

Data as of 27 July 2026

135 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.9th percentile).

medium confidence · 98.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

70 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.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Multiple system atrophy" OR "Multisystem atrophy" OR "Shy-Drager syndrome"

Run this search on Europe PMC

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

"Multiple system atrophy" OR "Multisystem atrophy" OR "Shy-Drager syndrome" OR "COQ2"

Recall-expansion terms: COQ2

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: 135 interventional · 70 observational · 3 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MSA

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 2026-07-26T12:25:46.153Z