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ORPHA:206564

POMGNT1-related limb-girdle muscular dystrophy R15

low confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2O · LGMD type 2O · LGMD2O · Limb-girdle muscular dystrophy type 2O · POMGNT1-related LGMD R15

Publications

960

Trials

0

Interventional, condition-specific

Researchers

153

Distinct authors in sample

Gene link

POMGNT1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of limb-girdle muscular characterized by an onset in childhood or adolescence of rapidly proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

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 (4)

LGMD-POMGNT1 related · MDDGC3 · POMGNT1 autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1

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

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

  1. Gene identifiedPresent

    Definitive — POMGNT1

  2. LiteraturePresent

    960 matched papers (527 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Increased endomysial connective tissue; Calf muscle hypertrophy; Hyperlordosis) 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 trialPartial

    None under the specific name; 24 for broader category limb-girdle muscular dystrophy

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 (POMGNT1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

13

Associated phenotypes · MONDO:0013161

  • Increased endomysial connective tissue
  • Calf muscle hypertrophy
  • Hyperlordosis
  • Skeletal muscle hypertrophy
  • Increased variability in muscle fiber diameter

Showing 5 of 13 — open Monarch for the full list.

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?

960

960 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.

960 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).

527 in the last 10 years · low confidence

Phrase hits: 28 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

153

Distinct author names in 28 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
    Cruces J2 papers · 2016

    Instituto de Investigación Sanitaria del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.

    Papers in Europe PMC
  2. 02
    Nigro V2 papers · 2014

    Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli and Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

    Papers in Europe PMC
  3. 03
    Yang H2 papers · 2021

    Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.

    Papers in Europe PMC
  4. 04
    Acosta SA1 paper · 2023

    School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA.

    Papers in Europe PMC
  5. 05
    Altassan R1 paper · 2018

    Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.

    Papers in Europe PMC
  6. 06
    Amato AA1 paper · 2011

    Department of Neurology, Neuromuscular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115-6110, USA. aamato@partners.org

    Papers in Europe PMC
  7. 07
    Amponsah K1 paper · 2024

    Centre for Mathematical Medicine & Biology, Mathematical Sciences, University of Nottingham, Nottingham NG7 2RD, UK.

    Papers in Europe PMC
  8. 08
    Aston D1 paper · 2024

    Department of Anaesthesia and Critical Care, Royal Papworth Hospital NHS Foundation Trust, Papworth Road, Cambridge CB2 0AY, UK.

    Papers in Europe PMC
  9. 09
    Astrea G1 paper · 2018

    Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.

    Papers in Europe PMC
  10. 10
    Aurino S1 paper · 2010
    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 24 trials are registered for limb-girdle muscular dystrophy, 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.

low 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.

24 interventional trials matched limb-girdle muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: limb-girdle muscular dystrophy

24

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

Observational and natural-history studies

2 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

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 POMGNT1-related limb-girdle muscular dystrophy R15 — 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.

("POMGNT1-related limb-girdle muscular dystrophy R15" OR "Autosomal recessive limb-girdle muscular dystrophy type 2O" OR "LGMD type 2O" OR "LGMD2O" OR "Limb-girdle muscular dystrophy type 2O" OR "POMGNT1-related LGMD R15" OR "LGMD-POMGNT1 related" OR "MDDGC3" OR "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1") OR ("POMGNT1" OR "POMGNT1 syndrome" OR "POMGNT1-related")

Run this search on Europe PMC

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

"POMGNT1-related limb-girdle muscular dystrophy R15" OR "Autosomal recessive limb-girdle muscular dystrophy type 2O" OR "LGMD type 2O" OR "LGMD2O" OR "Limb-girdle muscular dystrophy type 2O" OR "POMGNT1-related LGMD R15" OR "LGMD-POMGNT1 related" OR "MDDGC3" OR "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

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 (960) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T09:19:42.888Z