ORPHA:98912
Late-onset distal myopathy, Markesbery-Griggs type
Also known as: ZASP-related myofibrillar myopathy
Publications
6
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
50
Distinct authors in sample
Gene link
LDB3
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, non-dystrophic myofibrillar disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated and/or has been reported in a minority of cases.
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:0012277
- MeSH:C563718
- OMIM:609452
- UMLS:C4721886
Additional Mondo synonyms (5)
LDB3 myofibrillar myopathy (disease) · LDB3-related myofibrillar myopathy · myofibrillar myopathy (disease) caused by mutation in LDB3 · myofibrillar myopathy type 4 · myopathy, myofibrillar, type 4
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 — LDB3
- LiteraturePresent
6 matched papers (5 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; 4 for broader category distal myopathy
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 (LDB3).
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?
6
6 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.
6 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 1
Who's working on it?
50
Distinct author names in 6 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.
- 01Ala U1 paper · 2011Papers in Europe PMC
- 02Arbustini E1 paper · 2018
Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
Papers in Europe PMC - 03Bakoš M1 paper · 2024
Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Papers in Europe PMC - 04Bianco A1 paper · 2018
Department of Translational Medical Sciences, Federico II University, Naples, Italy.
Papers in Europe PMC - 05Bondue A1 paper · 2018
Department of Cardiology, CUB Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Papers in Europe PMC - 06Bracco C1 paper · 2011Papers in Europe PMC
- 07Chen S1 paper · 2017
Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Papers in Europe PMC - 08Chen X1 paper · 2023
Department of Cardiology, Beijing Children's Hospital Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Papers in Europe PMC - 09Chen Y1 paper · 2017
Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Papers in Europe PMC - 10Ciccarelli M1 paper · 2018
School of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.
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. 4 trials are registered for distal myopathy, 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.
4 interventional trials matched distal myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: distal myopathy
4
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.
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
- NCT07502989·RECRUITING·Muscle Health Measurements Using Electrical Impedance Myography
Conditions: Myopathy · Muscular Dystrophies · Myositis · Myofibrillar Myopathy·Matched via recall expansion
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.
"Late-onset distal myopathy, Markesbery-Griggs type" OR "ZASP-related myofibrillar myopathy" OR "LDB3 myofibrillar myopathy (disease)" OR "LDB3-related myofibrillar myopathy" OR "myofibrillar myopathy (disease) caused by mutation in LDB3" OR "myofibrillar myopathy type 4" OR "myopathy, myofibrillar, type 4"
MeSH descriptor terms unioned into the query: Myopathy, Myofibrillar, Zasp-Related
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Late-onset distal myopathy, Markesbery-Griggs type" OR "ZASP-related myofibrillar myopathy" OR "LDB3 myofibrillar myopathy (disease)" OR "LDB3-related myofibrillar myopathy" OR "myofibrillar myopathy (disease) caused by mutation in LDB3" OR "myofibrillar myopathy type 4" OR "myopathy, myofibrillar, type 4" OR "Myopathy, Myofibrillar, Zasp-Related" OR "LDB3" OR "autosomal dominant distal myopathy" OR "myofibrillar myopathy" OR "congenital structural myopathy"
Recall-expansion terms: LDB3, autosomal dominant distal myopathy, myofibrillar myopathy, congenital structural myopathy
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"distal myopathy"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, 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
Ingested 2026-07-27T05:42:51.048Z