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ORPHA:102

Multiple system atrophy

medium confidenceDisorder

Also known as: MSA · Multisystem atrophy

Publications

19,659

97.6th percentile

Trials

136

Interventional, condition-specific

Researchers

1,399

Distinct authors in sample

Gene link

COQ2

Moderate

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Moderate — COQ2

  2. LiteraturePresent

    19,659 matched papers (12,072 in last 10 years) Source

  3. Phenotype characterisedPresent

    211 HPO annotations (e.g. Neuromuscular dysphagia; Progressive cerebellar ataxia; Broad-based gait) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 7 EMA designations (1 FDA orphan-indication approval) — e.g. verdiperstat Source

  6. Interventional trialPresent

    136 matched on ClinicalTrials.gov (42 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)

211

Associated phenotypes · MONDO:0007803

  • Neuromuscular dysphagia
  • Progressive cerebellar ataxia
  • Broad-based gait
  • Orofacial dyskinesia
  • Frequent falls

Showing 5 of 211 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

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)

8

Designations · 1 with FDA orphan-indication approval

  • FDA verdiperstatMultiple System Atrophy · 2019-02-15 · Not FDA Approved for Orphan Indication
  • EMA ExidavnemabTreatment of multiple system atrophy · 20/06/2025 · PositiveEMA designation
  • EMA human IgG1 monoclonal antibody against alpha-synucleinTreatment of multiple system atrophy · 20/05/2021 · PositiveEMA designation
  • EMA Ile-Ser-Ile-Thr-Glu-Ile-Lys-Gly-Val-Ile-Val-His-Arg-Ile-Glu-Thr-Ile-Leu-Phe-Lys-Lys-Lys-Lys-Glu-Met-Pro-Ser-Glu-Glu-Gly-Tyr-Gln-AspTreatment of multiple system atrophy · 19/11/2018 · PositiveEMA designation
  • EMA 3-(1,3-benzodioxol-5-yl)-5-(3-bromophenyl)-1H-pyrazoleTreatment of multiple system atrophy · 18/07/2022 · PositiveEMA designation
  • EMA 5,7-dichloro-2-((ethylamino)methyl)-8-hydroxy-3-methylquinazolin-4(3H)-one mesilateTreatment of multiple system atrophy · 16/12/2019 · PositiveEMA designation
  • EMA 1-(2-isopropoxyethyl)-2-thioxo-1,2,3,5-tetrahydro-pyrrolo[3,2-d] pyrimidin-4-one (verdiperstat)Treatment of multiple system atrophy · 16/12/2014 · PositiveEMA designation
  • EMA 2-[[(4-Methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazol-5-olTreatment of multiple system atrophy · 09/01/2026 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

26

Drugs / clinical candidates · MONDO_0007803

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

19,659

19,659 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.

19,659 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).

12,072 in the last 10 years · medium confidence · 97.6th percentile (publications denominator)

Phrase hits: 18,435 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,399

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
    Wang H9 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Fanciulli A7 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Kaufmann H6 papers · 2026

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

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

    Service de Neurologie des Maladies Neurodégénératives, IMNc, CRMR AMS, CHU Bordeaux, Bordeaux, France.

    Papers in Europe PMC
  5. 05
    Freeman R5 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Goldstein DS5 papers · 2026

    Clinical Neurosciences Program (CNP), Division of Intramural Research (DIR), National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, 20892, USA. Electronic address: goldsteind@ninds.nih.gov.

    Papers in Europe PMC
  7. 07
    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
  8. 08
    Wang J5 papers · 2026

    Department of Neurology, Huashan Hospital of Fudan University, Shanghai, China.

    Papers in Europe PMC
  9. 09
    Bendetowicz D4 papers · 2026

    Service de Neurologie des Maladies Neurodégénératives, IMNc, CRMR AMS, CHU Bordeaux, Bordeaux, France.

    Papers in Europe PMC
  10. 10
    Fabbri M4 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?

136

interventional trials for this specific condition

136 interventional trials matched this specific condition name; 42 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

136 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.9th percentile).

medium confidence · 98.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

136 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.

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 57 · after dedupe 57 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 57 · 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 (57)

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 Multiple system atrophy — 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.

("Multiple system atrophy" OR "Multisystem atrophy" OR "Shy-Drager syndrome") OR ("COQ2" OR "COQ2 syndrome" OR "COQ2-related")

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"

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: 136 interventional · 70 observational · 3 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: 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