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ORPHA:642691

Fragile X-associated primary ovarian insufficiency

low confidenceDisorder

Also known as: FXPOI · Fragile X-associated POF · Fragile X-associated POI · Fragile X-associated premature ovarian failure · POF associated with fragile X premutation · POI associated with fragile X premutation · Premature ovarian failure associated with fragile X premutation · Primary ovarian insufficiency associated with fragile X premutation

Publications

17,661

Trials

2

Interventional, condition-specific

Researchers

917

Distinct authors in sample

Gene link

COL4A6, FMR1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in FMR1 gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

FMR1 primary ovarian failure · fragile x-associated primary ovarian insufficiency · premature ovarian failure 1 · premature ovarian failure type 1 · primary ovarian failure caused by mutation in FMR1

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — COL4A6, FMR1

  2. LiteraturePresent

    17,661 matched papers (10,987 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Irregular menstruation; Premature ovarian insufficiency; Increased circulating gonadotropin level) Source

  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

    2 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 (COL4A6, FMR1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

3

Associated phenotypes · MONDO:0010706

  • Irregular menstruation
  • Premature ovarian insufficiency
  • Increased circulating gonadotropin level

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?

17,661

17,661 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.

17,661 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).

10,987 in the last 10 years · low confidence

Phrase hits: 767 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

917

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
    Tassone F27 papers · 2026

    MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.

    Papers in Europe PMC
  2. 02
    Hagerman RJ20 papers · 2026

    Department of Pediatrics, University of California Davis, School of Medicine, Sacramento, CA 95616, USA.

    Papers in Europe PMC
  3. 03
    Allen EG18 papers · 2026

    Department of Human Genetics, Emory University Atlanta, GA, USA.

    Papers in Europe PMC
  4. 04
    Hagerman R18 papers · 2026

    MIND Institute, University of California at Davis, Sacramento, California.

    Papers in Europe PMC
  5. 05
    Sherman SL14 papers · 2023

    Department of Human Genetics, Emory University, 615 Michael St, Emory University, Atlanta, GA 30322, USA.

    Papers in Europe PMC
  6. 06
    Schneider A11 papers · 2026

    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.

    Papers in Europe PMC
  7. 07
    Usdin K11 papers · 2025

    Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  8. 08
    Klusek J9 papers · 2026

    Department of Communication Sciences and Disorders, University of South Carolina, Columbia, South Carolina.

    Papers in Europe PMC
  9. 09
    Protic D9 papers · 2026

    Department of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.

    Papers in Europe PMC
  10. 10
    Rodriguez-Revenga L8 papers · 2024

    Biochemistry and Molecular Genetics Department, Hospital Clinic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 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

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

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

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 Fragile X-associated primary ovarian insufficiency — 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.

("Fragile X-associated primary ovarian insufficiency" OR "FXPOI" OR "Fragile X-associated POF" OR "Fragile X-associated POI" OR "Fragile X-associated premature ovarian failure" OR "POF associated with fragile X premutation" OR "POI associated with fragile X premutation" OR "Premature ovarian failure associated with fragile X premutation" OR "Primary ovarian insufficiency associated with fragile X premutation" OR "FMR1 primary ovarian failure" OR "premature ovarian failure 1" OR "premature ovarian failure type 1" OR "primary ovarian failure caused by mutation in FMR1") OR ("COL4A6" OR "COL4A6 syndrome" OR "COL4A6-related" OR "FMR1" OR "FMR1 syndrome" OR "FMR1-related")

Run this search on Europe PMC

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

"Fragile X-associated primary ovarian insufficiency" OR "FXPOI" OR "Fragile X-associated POF" OR "Fragile X-associated POI" OR "Fragile X-associated premature ovarian failure" OR "POF associated with fragile X premutation" OR "POI associated with fragile X premutation" OR "Premature ovarian failure associated with fragile X premutation" OR "Primary ovarian insufficiency associated with fragile X premutation" OR "FMR1 primary ovarian failure" OR "premature ovarian failure 1" OR "premature ovarian failure type 1" OR "primary ovarian failure caused by mutation in FMR1"

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: 2 interventional · 0 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
  • Publication count (17661) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T19:37:49.669Z