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ORPHA:93256

Fragile X-associated tremor/ataxia syndrome

high confidenceDisorder

Also known as: FXTAS syndrome

Publications

2,076

93.8th percentile

Trials

6

Interventional, condition-specific

Researchers

1,030

Distinct authors in sample

Gene link

FMR1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Fragile X-associated tremor/ syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset intention tremor and gait .

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)

Fragile X tremor/ataxia syndrome, X-linked dominant

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

    Definitive — FMR1

  2. LiteraturePresent

    2,076 matched papers (1,228 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

    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 (FMR1).

GenCC classification: Definitive.

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?

2,076

2,076 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=5449) is 41.

2,076 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).

1,228 in the last 10 years · high confidence · 93.8th percentile (publications denominator)

Phrase hits: 2,070 · MeSH hits: 6

Open Europe PMC search

Who's working on it?

1,030

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
    Hagerman RJ26 papers · 2026

    The MIND Institute University of California Davis Medical Center Sacramento California USA.

    Papers in Europe PMC
  2. 02
    Tassone F25 papers · 2026

    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, CA, 95817, USA. ftassone@ucdavis.edu.

    Papers in Europe PMC
  3. 03
    Hagerman R16 papers · 2026

    Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, 2825 50th Street, Sacramento, CA, 95817, USA.

    Papers in Europe PMC
  4. 04
    Hessl D13 papers · 2026

    The MIND Institute University of California Davis Medical Center Sacramento California USA.

    Papers in Europe PMC
  5. 05
    Rivera SM12 papers · 2026

    The MIND Institute University of California Davis Medical Center Sacramento California USA.

    Papers in Europe PMC
  6. 06
    Hall DA11 papers · 2026

    Department of Neurological Sciences Rush University Medical Center Chicago Illinois USA.

    Papers in Europe PMC
  7. 07
    Schneider A11 papers · 2026

    Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.

    Papers in Europe PMC
  8. 08
    Wang JY11 papers · 2026

    Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California, USA.

    Papers in Europe PMC
  9. 09
    Berry-Kravis E8 papers · 2026

    Department of Neurological Sciences Rush University Medical Center Chicago Illinois USA.

    Papers in Europe PMC
  10. 10
    Espinal G8 papers · 2026

    Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.

    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 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

high confidence · 89th 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.

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.

"Fragile X-associated tremor/ataxia syndrome" OR "FXTAS syndrome" OR "Fragile X tremor/ataxia syndrome, X-linked dominant"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fragile X Tremor Ataxia Syndrome

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

"Fragile X-associated tremor/ataxia syndrome" OR "FXTAS syndrome" OR "Fragile X tremor/ataxia syndrome, X-linked dominant" OR "Fragile X Tremor Ataxia Syndrome" OR "FMR1"

Recall-expansion terms: FMR1

Interventional trials matched via: both, phrase, recall-expansion (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, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

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 2026-07-27T04:08:43.264Z