ORPHA:424261
TOR1AIP1-related limb-girdle muscular dystrophy
Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2Y · Autosomal recessive muscular dystrophy due to LAP1B deficiency · Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency · LGMD type 2Y · LGMD2Y · Muscular dystrophy with progressive weakness, distal contractures and rigid spine · TOR1AIP1-related LGMD
Publications
342
72.9th percentile
Trials
0
Interventional, condition-specific
Researchers
86
Distinct authors in sample
Gene link
TOR1AIP1
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A form of limb-girdle muscular , presenting in the first or second decades of life, characterized by slowly proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild .
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:0014900
- OMIM:617072
- UMLS:C4511482
- NCIT:C181000
Additional Mondo synonyms (6)
TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1 · autosomal recessive muscular dystrophy due to LAP1B deficiency · autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency · muscular dystrophy with progressive weakness, distal contractures and rigid spine · muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — TOR1AIP1
- LiteraturePresent
342 matched papers (264 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Elevated circulating creatine kinase activity; Camptodactyly of finger; Joint contracture) Source
- 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 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 (TOR1AIP1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
16
Associated phenotypes · MONDO:0014900
- Elevated circulating creatine kinase activity
- Camptodactyly of finger
- Joint contracture
- Muscle weakness
- Spinal rigidity
Showing 5 of 16 — open Monarch for the full list.
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?
342
342 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.
342 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).
264 in the last 10 years · medium confidence · 72.9th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
86
Distinct author names in 13 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.
- 01Brokamp E2 papers · 2020
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 02Hamid R2 papers · 2020
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 03Koziura ME2 papers · 2020
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 04Acar AC1 paper · 2022
Cancer Systems Biology Laboratory, Graduate School of Informatics, Middle East Technical University, Ankara 06531, Turkey.
Papers in Europe PMC - 05Bashir R1 paper · 2024
School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
Papers in Europe PMC - 06Bhatia A1 paper · 2019
Department of Radiology, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: aashimbhatia@gmail.com.
Papers in Europe PMC - 07Biancalana V1 paper · 2024
IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.
Papers in Europe PMC - 08Bican A1 paper · 2020
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 09Böhm J1 paper · 2024
IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.
Papers in Europe PMC - 10Boland A1 paper · 2024
Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, 91057, France.
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.
medium 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
- 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
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 2026-07-30
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 TOR1AIP1-related limb-girdle muscular dystrophy — 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.
("TOR1AIP1-related limb-girdle muscular dystrophy" OR "Autosomal recessive limb-girdle muscular dystrophy type 2Y" OR "Autosomal recessive muscular dystrophy due to LAP1B deficiency" OR "Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" OR "LGMD type 2Y" OR "LGMD2Y" OR "Muscular dystrophy with progressive weakness, distal contractures and rigid spine" OR "TOR1AIP1-related LGMD" OR "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1" OR "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures") OR ("TOR1AIP1" OR "TOR1AIP1 syndrome" OR "TOR1AIP1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"TOR1AIP1-related limb-girdle muscular dystrophy" OR "Autosomal recessive limb-girdle muscular dystrophy type 2Y" OR "Autosomal recessive muscular dystrophy due to LAP1B deficiency" OR "Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" OR "LGMD type 2Y" OR "LGMD2Y" OR "Muscular dystrophy with progressive weakness, distal contractures and rigid spine" OR "TOR1AIP1-related LGMD" OR "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1" OR "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"
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
- Publication count (342) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T15:57:19.567Z