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ORPHA:481

Kennedy disease

low confidenceDisorder

Also known as: SBMA · SMAX1 · X-linked BSMA · X-linked bulbospinal amyotrophy · X-linked bulbospinal muscular atrophy · X-linked spinal and bulbar muscular atrophy

Publications

3,211

Trials

6

Interventional, condition-specific

Researchers

1,038

Distinct authors in sample

Gene link

AR

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked motor neuron disease characterized by proximal and bulbar muscle wasting.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Kennedy's disease · spinal and bulbar muscular atrophy of Kennedy, X-linked recessive · spinal and bulbar muscular atrophy, X-linked type 1

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

    Definitive — AR

  2. LiteraturePresent

    3,211 matched papers (2,048 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Dysphagia; Elevated circulating creatine kinase activity; Decreased fertility) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. geranylgeranylacetone Source

  6. Interventional trialPresent

    6 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (AR).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0010735

  • Dysphagia
  • Elevated circulating creatine kinase activity
  • Decreased fertility
  • Gynecomastia
  • Fasciculations

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA geranylgeranylacetoneSpinal and Bulbar Muscular Atrophy · 2020-06-26 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0010735

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,211

3,211 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.

3,211 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).

2,048 in the last 10 years · low confidence

Phrase hits: 1,579 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,038

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
    Gutjahr C10 papers · 2026

    Plant Genetics, TUM School of Life Sciences, Technical University of Munich (TUM), Emil Ramann Str. 4, 85354, Freising, Germany.

    Papers in Europe PMC
  2. 02
    Nelson DC10 papers · 2025

    Department of Botany and Plant Sciences, University of California, Riverside, CA 92521, USA.

    Papers in Europe PMC
  3. 03
    Wang Y8 papers · 2026

    Prenatal Diagnostic Center of Obstetrics and Department of Gynecology, Qilu Hospital of Shandong University, Jinan, Shandong, China.

    Papers in Europe PMC
  4. 04
    La Spada AR6 papers · 2025

    Department of Neurology, Duke University School of Medicine; Duke Center for Neurodegeneration & Neurotherapeutics, Duke University School of Medicine; Department of Neurobiology, Duke University School of Medicine; Department of Cell Biology, Duke University School of Medicine.

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

    Department of Neurology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.

    Papers in Europe PMC
  6. 06
    Seto Y6 papers · 2026

    Laboratory of Plant Chemical Regulation, School of Agriculture, Meiji University, 1-1-1, Higashi-mita, Tama-ku, Kawasaki 214-8571 Japan.

    Papers in Europe PMC
  7. 07
    Yang X6 papers · 2026

    Department of Neurology, Changchun Central Hospital, Changchun 130000, China.

    Papers in Europe PMC
  8. 08
    Zhang Y6 papers · 2026

    State Key Laboratory of Elemento-Organic Chemistry and Department of Chemical Biology, National Pesticide Engineering Research Center, Collaborative Innovation Center of Chemical Science and Engineering, College of Chemistry, Nankai University, 300071, Tianjin, P. R. China.

    Papers in Europe PMC
  9. 09
    Chang SH5 papers · 2026

    Department of Botany and Plant Sciences, University of California, Riverside, California 92521.

    Papers in Europe PMC
  10. 10
    Li Q5 papers · 2024

    Department of Botany and Plant Sciences, University of California, Riverside, California 92521.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

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

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Kennedy 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.

("Kennedy disease" OR "SMAX1" OR "X-linked BSMA" OR "X-linked bulbospinal amyotrophy" OR "X-linked bulbospinal muscular atrophy" OR "X-linked spinal and bulbar muscular atrophy" OR "Kennedy's disease" OR "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive" OR "spinal and bulbar muscular atrophy of the Kennedy, X-linked recessive" OR "spinal and bulbar muscular atrophy, X-linked type 1") OR ("AR syndrome" OR "AR-related")

Run this search on Europe PMC

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

"Kennedy disease" OR "SMAX1" OR "X-linked BSMA" OR "X-linked bulbospinal amyotrophy" OR "X-linked bulbospinal muscular atrophy" OR "X-linked spinal and bulbar muscular atrophy" OR "Kennedy's disease" OR "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive" OR "spinal and bulbar muscular atrophy of the Kennedy, X-linked recessive" OR "spinal and bulbar muscular atrophy, X-linked type 1"

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: 6 interventional · 3 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: SBMA

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3211) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:59:03.672Z