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ORPHA:171709

Male infertility due to globozoospermia

high confidenceSubtype of disorder

Also known as: Male infertility due to round-headed spermatozoa · Round-headed sperm syndrome

Publications

448

79.3th percentile

Trials

0

Interventional, condition-specific

Researchers

147

Distinct authors in sample

Gene link

DPY19L2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

male infertility due to globozoospermia · male infertility due to round-headed spermatozoa · round-headed sperm syndrome

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — DPY19L2

  2. LiteraturePresent

    448 matched papers (355 in last 10 years) Source

  3. Phenotype characterisedPresent

    6 HPO annotations (e.g. Decreased acrosin in sperm head; Globozoospermia; Male infertility) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 108 for broader category male infertility

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 (DPY19L2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

6

Associated phenotypes · MONDO:0015746

  • Decreased acrosin in sperm head
  • Globozoospermia
  • Male infertility

Showing 3 of 6 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

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?

448

448 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

448 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).

355 in the last 10 years · high confidence · 79.3th percentile (publications denominator)

Phrase hits: 22 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

147

Distinct author names in 22 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Carrell DT2 papers · 2001

    Division of Urology, University of Utah School of Medicine, Salt Lake City 84132, USA.

    Papers in Europe PMC
  2. 02
    De Braekeleer M2 papers · 2015

    Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France, marc.debraekeleer@univ-brest.fr.

    Papers in Europe PMC
  3. 03
    de los Santos MR2 papers · 2025

    Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Institute of Medical Genetics and Human Genetics, 13353, Berlin, Germany.

    Papers in Europe PMC
  4. 04
    Fischer-Zirnsak B2 papers · 2025

    Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Institute of Medical Genetics and Human Genetics, 13353, Berlin, Germany.

    Papers in Europe PMC
  5. 05
    Foulquier F2 papers · 2025

    University of Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000, Lille, France.

    Papers in Europe PMC
  6. 06
    Hausser I2 papers · 2025

    Institute of Pathology, Heidelberg University Hospital, 69120, Heidelberg, Germany.

    Papers in Europe PMC
  7. 07
    Hoffmann A2 papers · 2025

    Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Institute of Medical Genetics and Human Genetics, 13353, Berlin, Germany.

    Papers in Europe PMC
  8. 08
    Jahn D2 papers · 2025

    Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Institute of Medical Genetics and Human Genetics, 13353, Berlin, Germany.

    Papers in Europe PMC
  9. 09
    Koch LA2 papers · 2025

    Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Institute of Medical Genetics and Human Genetics, 13353, Berlin, Germany.

    Papers in Europe PMC
  10. 10
    Kopp J2 papers · 2025

    Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Institute of Medical Genetics and Human Genetics, 13353, Berlin, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 108 trials are registered for male infertility, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

108 interventional trials matched male infertility, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: male infertility

108

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 Male infertility due to globozoospermia — 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.

("Male infertility due to globozoospermia" OR "Male infertility due to round-headed spermatozoa" OR "Round-headed sperm syndrome") OR ("DPY19L2" OR "DPY19L2 syndrome" OR "DPY19L2-related")

Run this search on Europe PMC

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

"Male infertility due to globozoospermia" OR "Male infertility due to round-headed spermatozoa" OR "Round-headed sperm syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"male infertility"

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

Ingested 2026-07-27T08:42:35.981Z