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ORPHA:219

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

high confidenceDisorder

Also known as: Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2F · Autosomal recessive limb-girdle muscular dystrophy type 2F · Delta-sarcoglycan-related LGMD R6 · Delta-sarcoglycanopathy · LGMD due to delta-sarcoglycan deficiency · LGMD type 2F · LGMD2F

Publications

1,478

87.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,630

Distinct authors in sample

Gene link

SGCD

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of limb-girdle muscular characterized by a variable age of onset of weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with respiratory muscle impairment and . Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

SGCD autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD · limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency · muscular dystrophy, limb-girdle, autosomal recessive 6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SGCD

  2. LiteraturePresent

    1,478 matched papers (965 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Elevated circulating creatine kinase activity; Gait disturbance; Difficulty climbing stairs) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Kifunensine 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 (SGCD).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0011028

  • Elevated circulating creatine kinase activity
  • Gait disturbance
  • Difficulty climbing stairs
  • Proximal amyotrophy
  • Ventricular hypertrophy

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA KifunensineTreatment of delta sarcoglycanopathy · 27/09/2011 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

1,478

1,478 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.

1,478 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).

965 in the last 10 years · high confidence · 87.2th percentile (publications denominator)

Phrase hits: 207 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,630

Distinct author names in 200 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
    Li X7 papers · 2025

    College of Animal Science and Technology, Tarim University, Xinjiang, China.

    Papers in Europe PMC
  2. 02
    Liu Y6 papers · 2026

    Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, PA, USA.

    Papers in Europe PMC
  3. 03
    Wang Z6 papers · 2026

    Department of Neurology, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  4. 04
    Li J5 papers · 2026

    Key Laboratory of Bio-Resources and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu 610065, PR China; Joint Nutrition Center for Animal Feeding of Sichuan University-Shengliyuan Group.

    Papers in Europe PMC
  5. 05
    Straub V5 papers · 2024

    Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  6. 06
    Wang J5 papers · 2025

    College of Animal Science and Technology, Tarim University, Xinjiang, China.

    Papers in Europe PMC
  7. 07
    Wang Y5 papers · 2025

    Key Laboratory of Bio-Resources and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu 610065, PR China; Joint Nutrition Center for Animal Feeding of Sichuan University-Shengliyuan Group. Electronic address: cdwyjhk@163.com.

    Papers in Europe PMC
  8. 08
    Yuan Y5 papers · 2024

    Department of Neurology, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  9. 09
    Zhang Y5 papers · 2026

    College of Animal Science, Inner Mongolia Agricultural University, Hohhot, China. imauzyj@163.com.

    Papers in Europe PMC
  10. 10
    Chen X4 papers · 2025

    Medical School of Nantong University, Nantong, 226001, Jiangsu, China.

    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. 1 observational study 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.

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.

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

1 observational study matches 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 2026-07-29

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 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 — 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.

("Delta-sarcoglycan-related limb-girdle muscular dystrophy R6" OR "Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2F" OR "Autosomal recessive limb-girdle muscular dystrophy type 2F" OR "Delta-sarcoglycan-related LGMD R6" OR "Delta-sarcoglycanopathy" OR "LGMD due to delta-sarcoglycan deficiency" OR "LGMD type 2F" OR "LGMD2F" OR "SGCD autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" OR "muscular dystrophy, limb-girdle, autosomal recessive 6") OR ("SGCD" OR "SGCD syndrome" OR "SGCD-related")

Run this search on Europe PMC

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

"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6" OR "Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2F" OR "Autosomal recessive limb-girdle muscular dystrophy type 2F" OR "Delta-sarcoglycan-related LGMD R6" OR "Delta-sarcoglycanopathy" OR "LGMD due to delta-sarcoglycan deficiency" OR "LGMD type 2F" OR "LGMD2F" OR "SGCD autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" OR "muscular dystrophy, limb-girdle, autosomal recessive 6"

Study-type breakdown: 0 interventional · 1 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

Ingested 2026-07-26T12:56:35.243Z