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ORPHA:352479

ISPD-related limb-girdle muscular dystrophy R20

low confidenceDisorder

Also known as: Limb-girdle muscular dystrophy type 2U · Autosomal recessive limb-girdle muscular dystrophy type 2U · ISPD-related LGMD R20 · LGMD type 2U · LGMD2U

Publications

2,378

Trials

0

Interventional, condition-specific

Researchers

87

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of limb-girdle muscular disorder characterized by to childhood-onset of slowly , principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.

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)

ISPD autosomal recessive limb-girdle muscular dystrophy · MDDGC7 · autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,378 matched papers (1,698 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Loss of ambulation; Elevated circulating creatine kinase activity; Scapular winging) 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; 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0014474

  • Loss of ambulation
  • Elevated circulating creatine kinase activity
  • Scapular winging
  • Calf muscle hypertrophy
  • Limb-girdle muscular dystrophy

Showing 5 of 26 — 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?

2,378

2,378 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.

2,378 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).

1,698 in the last 10 years · low confidence

Phrase hits: 15 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

87

Distinct author names in 15 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
    Gupta VA2 papers · 2012
    Papers in Europe PMC
  2. 02
    Acosta SA1 paper · 2023

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

    Papers in Europe PMC
  3. 03
    Al-Qudah AK1 paper · 2012
    Papers in Europe PMC
  4. 04
    Altassan R1 paper · 2018

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

    Papers in Europe PMC
  5. 05
    Astrea G1 paper · 2018

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

    Papers in Europe PMC
  6. 06
    Barry BJ1 paper · 2012
    Papers in Europe PMC
  7. 07
    Barton ER1 paper · 2020

    Center for Exercise Science, Department of Applied Physiology and Kinesiology, University of Florida College of Health and Human Performance, Gainesville, FL, USA.

    Papers in Europe PMC
  8. 08
    Beggs AH1 paper · 2012
    Papers in Europe PMC
  9. 09
    Blaeser A1 paper · 2020

    McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Atrium Health, Charlotte, NC 28203, USA.

    Papers in Europe PMC
  10. 10
    Bouchard C1 paper · 2023

    Departement de Médecine Moléculaire, Université Laval, Quebec, QC G1V 0A6, Canada.

    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 ISPD-related limb-girdle muscular dystrophy R20 — 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.

("ISPD-related limb-girdle muscular dystrophy R20" OR "Limb-girdle muscular dystrophy type 2U" OR "Autosomal recessive limb-girdle muscular dystrophy type 2U" OR "ISPD-related LGMD R20" OR "LGMD type 2U" OR "LGMD2U" OR "ISPD autosomal recessive limb-girdle muscular dystrophy" OR "MDDGC7" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD") OR ("ISPD" OR "ISPD syndrome" OR "ISPD-related")

Run this search on Europe PMC

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

"ISPD-related limb-girdle muscular dystrophy R20" OR "Limb-girdle muscular dystrophy type 2U" OR "Autosomal recessive limb-girdle muscular dystrophy type 2U" OR "ISPD-related LGMD R20" OR "LGMD type 2U" OR "LGMD2U" OR "ISPD autosomal recessive limb-girdle muscular dystrophy" OR "MDDGC7" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD"

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 (2378) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:12:12.265Z