ORPHA:653725
Autosomal recessive limb-girdle muscular dystrophy, type 28
Also known as: LGMD, type 28 · LGMDR28 · Limb-girdle, type 28R
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.
Is anyone studying this?
3
3 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=183) is 38.
3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
3 in the last 10 years · high confidence · 18th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
0
no matched trials for autosomal recessive limb-girdle muscular dystrophy, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
high confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (HMGCR).
GenCC classification: Strong.
Who's working on it?
37
Distinct author names in 3 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.
- 01Akbas S1 paper · 2026
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Papers in Europe PMC - 02Akyürek EE1 paper · 2025
Department of Comparative Biomedicine and Food Science, University of Padova, Viale dell'Università 16, Legnaro, 35020 Padova, Italy.
Papers in Europe PMC - 03
- 04Aslanger A1 paper · 2026
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Papers in Europe PMC - 05
- 06Bizzari S1 paper · 2026
Centre for Arab Genomic Studies, Hamdan bin Rashid Foundation for Medical and Educational Sciences, Dubai, UAE.
Papers in Europe PMC - 07Chouery E1 paper · 2026
Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Papers in Europe PMC - 08Corbani S1 paper · 2026
Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Papers in Europe PMC - 09Dalla Barba F1 paper · 2025
Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy.
Papers in Europe PMC - 10El-Hayek S1 paper · 2026
Centre for Arab Genomic Studies, Hamdan bin Rashid Foundation for Medical and Educational Sciences, Dubai, UAE.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
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 below but are not added to the query string.
"Autosomal recessive limb-girdle muscular dystrophy, type 28" OR "LGMD, type 28" OR "LGMDR28" OR "Limb-girdle, type 28R"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive limb-girdle muscular dystrophy, type 28" OR "LGMD, type 28" OR "LGMDR28" OR "Limb-girdle, type 28R" OR "HMGCR"
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:620375 UMLS:C5830518
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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