ORPHA:34517
Autosomal dominant limb-girdle muscular dystrophy type 1E
Also known as: LGMD1E
Publications
73
Trials
0
Interventional, condition-specific
Researchers
503
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
73 matched papers (32 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
73
73 papers have ever been published on this condition (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=3967) is 59.
73 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).
32 in the last 10 years · low confidence
Phrase hits: 73 · MeSH hits: 0
Who's working on it?
503
Distinct author names in 73 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.
- 01Vainzof M5 papers · 2022
Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo-IB-USP, São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 02Jonson PH4 papers · 2020
Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Papers in Europe PMC - 03Udd B4 papers · 2020
Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Papers in Europe PMC - 04
- 05Campbell KP3 papers · 2021
Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Molecular Physiology and Biophysics and Department of Neurology, Howard Hughes Medical Institute, Roy J and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, IA 52242 United States.
Papers in Europe PMC - 06Hackman P3 papers · 2020
From the Institute for Neuroscience and Muscle Research (R.G., L.W., S.K., N.C.), Kids Research Institute, Children's Hospital at Westmead & University of Sydney, Australia; Neuromuscular Research Center, Department of Neurology (J.P., S.P., M.L., B.U.), and Department of Pathology, Fimlab Laboratories (S.H.), Tampere University Hospital and University of Tampere, Finland; Department of Pathology (J.B.), Royal North Shore Hospital, Sydney, Australia; Broad Institute of Harvard and MIT (M.L., D.G.M.), Cambridge, MA; Western Australian Neurosciences Research Institute (M.N.), University of Western Australia, Perth; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., P.H.-J., A.V., B.U.), University of Helsinki, Finland; Department of Neurogenetics (R.L.D., C.Y., C.M.S.), Kolling Institute, Royal North Shore Hospital and University of Sydney; Murdoch Children's Research Institute (K.N.), The Royal Children's Hospital, Melbourne, Australia; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Papers in Europe PMC - 07Hu H3 papers · 2011
Department of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY, USA. huh@upstate.edu
Papers in Europe PMC - 08Nigro V3 papers · 2014
Telethon Institute of Genetics and Medicine, Naples, Italy. vincenzo.nigro@unina2.it
Papers in Europe PMC - 09Nishino I3 papers · 2020
National Center of Neurology and Psychiatry (NCNP), Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
Papers in Europe PMC - 10Palmio J3 papers · 2020
From the Institute for Neuroscience and Muscle Research (R.G., L.W., S.K., N.C.), Kids Research Institute, Children's Hospital at Westmead & University of Sydney, Australia; Neuromuscular Research Center, Department of Neurology (J.P., S.P., M.L., B.U.), and Department of Pathology, Fimlab Laboratories (S.H.), Tampere University Hospital and University of Tampere, Finland; Department of Pathology (J.B.), Royal North Shore Hospital, Sydney, Australia; Broad Institute of Harvard and MIT (M.L., D.G.M.), Cambridge, MA; Western Australian Neurosciences Research Institute (M.N.), University of Western Australia, Perth; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., P.H.-J., A.V., B.U.), University of Helsinki, Finland; Department of Neurogenetics (R.L.D., C.Y., C.M.S.), Kolling Institute, Royal North Shore Hospital and University of Sydney; Murdoch Children's Research Institute (K.N.), The Royal Children's Hospital, Melbourne, Australia; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
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.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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
- NCT05989620·RECRUITING·Long-Term Development of Muscular Dystrophy Outcome Assessments
Conditions: LGMD1B · LGMD1C · LGMD1D · LGMD1E·Matched via name phrase
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 Autosomal dominant limb-girdle muscular dystrophy type 1E — check Associations / patient organisations on that page.
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.
"Autosomal dominant limb-girdle muscular dystrophy type 1E" OR "LGMD1E"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant limb-girdle muscular dystrophy type 1E" OR "LGMD1E"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-26T23:41:09.766Z