ORPHA:480682
POGLUT1-related limb-girdle muscular dystrophy R21
Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2Z · LGMD type 2Z · LGMD2Z · Limb-girdle muscular dystrophy type 2Z · POGLUT1-related LGMD R21
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
33.9th percentile
Trials
0
Interventional, condition-specific
Researchers
113
Distinct authors in sample
Gene link
POGLUT1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare limb-girdle muscular characterized by adult onset of muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014977
- OMIM:617232
- UMLS:C4310660
- NCIT:C142082
Additional Mondo synonyms (6)
POGLUT1 autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1 · autosomal recessive limb-girdle muscular dystrophy type 2Z · limb-girdle muscular dystrophy type 2Z · muscular dystrophy, limb-girdle, autosomal recessive 21 · muscular dystrophy, limb-girdle, type 2Z
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — POGLUT1
- LiteraturePresent
17 matched papers (16 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (POGLUT1).
GenCC classification: Strong.
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?
17
17 papers have ever been indexed 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=5449) is 41.
17 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).
16 in the last 10 years · high confidence · 33.9th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
113
Distinct author names in 17 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.
- 01Kang PB3 papers · 2024
Myology Institute, University of Florida, Gainesville, FL, USA. pbkang@ufl.edu.
Papers in Europe PMC - 02
- 03Jafar-Nejad H2 papers · 2020
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Papers in Europe PMC - 04Pacak CA2 papers · 2022
Myology Institute, University of Florida, Gainesville, FL, USA.
Papers in Europe PMC - 05Paradas C2 papers · 2020
Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. cparadas@us.es.
Papers in Europe PMC - 06Savarese M2 papers · 2024
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 - 07Servián-Morilla E2 papers · 2020
Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
Papers in Europe PMC - 08Straub V2 papers · 2024
The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
Papers in Europe PMC - 09Acosta SA1 paper · 2023
School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA.
Papers in Europe PMC - 10Altassan R1 paper · 2018
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
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). 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- NCT07711730·RECRUITING·Telecare Psychosocial and Cognitive Intervention for Children and Adolescents With Limb-Girdle Muscular Dystrophy
Conditions: Limb-Girdle Muscular Dystrophy · Social Competence · Self Esteem · Health Related Quality of Life·Matched via name phrase
- NCT05230459·RECRUITING·A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
Conditions: Limb Girdle Muscular Dystrophy · Limb-Girdle Muscular Dystrophy Type 2 · LGMD2I · Muscular Dystrophy·Matched via name phrase
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 2026-07-26This 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.
"POGLUT1-related limb-girdle muscular dystrophy R21" OR "Autosomal recessive limb-girdle muscular dystrophy type 2Z" OR "LGMD type 2Z" OR "LGMD2Z" OR "Limb-girdle muscular dystrophy type 2Z" OR "POGLUT1-related LGMD R21" OR "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" OR "muscular dystrophy, limb-girdle, autosomal recessive 21" OR "muscular dystrophy, limb-girdle, type 2Z"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"POGLUT1-related limb-girdle muscular dystrophy R21" OR "Autosomal recessive limb-girdle muscular dystrophy type 2Z" OR "LGMD type 2Z" OR "LGMD2Z" OR "Limb-girdle muscular dystrophy type 2Z" OR "POGLUT1-related LGMD R21" OR "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" OR "muscular dystrophy, limb-girdle, autosomal recessive 21" OR "muscular dystrophy, limb-girdle, type 2Z" OR "POGLUT1" OR "autosomal recessive limb-girdle muscular dystrophy"
Recall-expansion terms: POGLUT1, autosomal recessive limb-girdle muscular dystrophy
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"limb-girdle muscular dystrophy"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T17:14:24.602Z