ORPHA:399058
Alpha-B crystallin-related late-onset myopathy
Also known as: Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,767
Trials
0
Interventional, condition-specific
Researchers
106
Distinct authors in sample
Gene link
CRYAB
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar , variably associated with and/or posterior polar cataracts. Patients typically present proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar changes.
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:0012130
- MeSH:C563848
- OMIM:608810
- UMLS:C1837317
Additional Mondo synonyms (7)
CRYAB autosomal dominant distal myopathy · CRYAB-related myofibrillar myopathy · alpha-B crystallinopathy · autosomal dominant distal myopathy caused by mutation in CRYAB · late-onset distal crystallinopathy · myofibrillar myopathy type 2 · myopathy, myofibrillar, type 2
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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — CRYAB
- LiteraturePresent
4,767 matched papers (3,318 in last 10 years) Source
- Phenotype characterisedPresent
47 HPO annotations (e.g. Leg muscle stiffness; Elevated circulating creatine kinase activity; Skeletal muscle autophagosome accumulation) Source
- Animal modelPresent
4 genotype models (Mus musculus) Source
- 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?
Yes — we know a specific gene responsible (CRYAB).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
47
Associated phenotypes · MONDO:0012130
- Leg muscle stiffness
- Elevated circulating creatine kinase activity
- Skeletal muscle autophagosome accumulation
- Limb-girdle muscle weakness
- Decreased Achilles reflex
Showing 5 of 47 — open Monarch for the full list.
Animal models (Monarch / Alliance)
4
Model associations linked to this Mondo ID
- Cryabtm1.1Ady/Cryabtm1.1Ady [background:] involves: 129X1/SvJ * C57BL/6 * C57BL/6J·MGI:4999583·Mus musculus
- Cryabtm1.1Ady/Cryab+ [background:] involves: 129X1/SvJ * C57BL/6 * C57BL/6J·MGI:4999584·Mus musculus
- Tg(Myh6-Cryab*R120G)708Rbns/0 [background:] FVB/N-Tg(Myh6-Cryab*R120G)708Rbns·MGI:5907293·Mus musculus
- Tg(Myh6-CRYAB*R120G)7302Ijb/0 [background:] involves: C57BL/6·MGI:6103873·Mus musculus
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?
4,767
4,767 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.
4,767 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).
3,318 in the last 10 years · low confidence
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
106
Distinct author names in 11 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.
- 01Ackerman MJ2 papers · 2022
Departments of Cardiovascular Medicine, Pediatric and Adolescent Medicine, and Molecular Pharmacology & Experimental Therapeutics; Divisions of Heart Rhythm Services and Pediatric Cardiology; Windland Smith Rice Genetic Heart Rhythm Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic Rochester MN USA.
Papers in Europe PMC - 02Aiba T2 papers · 2022
Department of Clinical Laboratory Medicine and Genetics, National Cerebral and Cardiovascular Center, Suita Osaka Japan.
Papers in Europe PMC - 03Ashley EA2 papers · 2022
Department of Cardiovascular Medicine Stanford University Stanford CA USA.
Papers in Europe PMC - 04Barajas-Martinez H2 papers · 2022
Cardiovascular Research Lankenau Institute of Medical Research Wynnewood PA USA.
Papers in Europe PMC - 05Behr ER2 papers · 2022
Cardiovascular Clinical Academic Group, Institute of Molecular and Clinical Sciences, St. George's University of London; St. George's University Hospitals NHS Foundation Trust London UKMayo Clinic HealthcareLondon.
Papers in Europe PMC - 06Bezzina CR2 papers · 2022
Amsterdam UMC Heart Center, Department of Experimental Cardiology Amsterdam The Netherlands.
Papers in Europe PMC - 07Bollmann A2 papers · 2022
Department of Electrophysiology Heart Center Leipzig at University of Leipzig Leipzig Germany.
Papers in Europe PMC - 08Breckpot J2 papers · 2022
Center for Human Genetics University Hospitals Leuven Leuven Belgium.
Papers in Europe PMC - 09
- 10
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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 Alpha-B crystallin-related late-onset myopathy — 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.
("Alpha-B crystallin-related late-onset myopathy" OR "Alpha-B crystallin-related late-onset distal myopathy" OR "Late-onset distal crystallinopathy" OR "CRYAB autosomal dominant distal myopathy" OR "CRYAB-related myofibrillar myopathy" OR "alpha-B crystallinopathy" OR "autosomal dominant distal myopathy caused by mutation in CRYAB" OR "myofibrillar myopathy type 2" OR "myopathy, myofibrillar, type 2") OR (MESH:"Alpha-B Crystallinopathy") OR ("CRYAB" OR "CRYAB syndrome" OR "CRYAB-related")MeSH descriptor terms unioned into the query: Alpha-B Crystallinopathy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Alpha-B crystallin-related late-onset myopathy" OR "Alpha-B crystallin-related late-onset distal myopathy" OR "Late-onset distal crystallinopathy" OR "CRYAB autosomal dominant distal myopathy" OR "CRYAB-related myofibrillar myopathy" OR "alpha-B crystallinopathy" OR "autosomal dominant distal myopathy caused by mutation in CRYAB" OR "myofibrillar myopathy type 2" OR "myopathy, myofibrillar, type 2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (4767) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:22:29.711Z