ORPHA:63273
FLNC-related handgrip and calf weakness-distal myopathy
Also known as: Distal ABD-filaminopathy
Publications
3,966
Trials
0
Interventional, condition-specific
Researchers
53
Distinct authors in sample
Gene link
FLNC
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
Distal with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a symmetric muscle weakness of anterior upper and posterior lower limbs.
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:0013550
- OMIM:614065
- UMLS:C3279722
Additional Mondo synonyms (2)
distal ABD-filaminopathy · myopathy, distal, 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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — FLNC
- LiteraturePresent
3,966 matched papers (3,351 in last 10 years) Source
- Phenotype characterisedPresent
33 HPO annotations (e.g. Abnormal calf musculature morphology; Myopathy; Mildly elevated creatine kinase) 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; 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 (FLNC).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
33
Associated phenotypes · MONDO:0013550
- Abnormal calf musculature morphology
- Myopathy
- Mildly elevated creatine kinase
- Cardiomyopathy
- Proximal muscle weakness
Showing 5 of 33 — 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?
3,966
3,966 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.
3,966 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).
3,351 in the last 10 years · low confidence
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
53
Distinct author names in 4 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.
- 01Hackman P2 papers · 2020
Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland.
Papers in Europe PMC - 02Udd B2 papers · 2020
Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland; Neuromuscular Research Unit, University of Tampere, Department of Neurology Tampere University Hospital, 33520 Tampere, Finland; Department of Neurology, Vasa Central Hospital, 65130 Vasa, Finland.
Papers in Europe PMC - 03Bassi MT1 paper · 2022
Laboratory of Molecular Biology, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) E. Medea, Bosisio Parini, Italy.
Papers in Europe PMC - 04Brown RH Jr1 paper · 2011
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Papers in Europe PMC - 05Bugiardini E1 paper · 2018
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Papers in Europe PMC - 06Cinnante C1 paper · 2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Milan, Italy.
Papers in Europe PMC - 07Citterio A1 paper · 2022
Laboratory of Molecular Biology, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) E. Medea, Bosisio Parini, Italy.
Papers in Europe PMC - 08Comi GP1 paper · 2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Milan, Italy.
Papers in Europe PMC - 09D'Angelo MG1 paper · 2022
NeuroMuscular Unit, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) E. Medea, Bosisio Parini, Italy.
Papers in Europe PMC - 10Djinović-Carugo K1 paper · 2011
Department for Structural and Computational Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria; Department of Biochemistry, Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana 1000, Slovenia.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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 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.
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.
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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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).
Uncertain / not reviewed (60)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2024-519787-40-00·Authorised, recruiting·A Phase III, Multicentre, Randomised Controlled Study of Sonesitatug vedotin in Combination with Capecitabine with or without Rilvegostomig in First-line Claudin18.2-positive, HER2-negative, Advanced/Metastatic Gastric, Gastroesophageal Junction, or Esophageal Adenocarcinoma (CLARITY-Gastric 02)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509795-42-00·Authorised·TicAgreLor versus placebo to prevent cerebral ISCHemia in anEuRysmal low grade SAH A double blinded randomised controlled study TALISCHER - SAH
skipped — LLM skipped (--skip-llm)
- ctis·2025-521145-24-01·Authorised·A Phase 1/2, Open-Label Study to Evaluate the Safety and Efficacy of Autologous CD19-specific Chimeric Antigen Receptor T cells (CABA-201) in Subjects with Active Idiopathic Inflammatory Myopathy or Active Juvenile Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524100-29-00·Authorised·An Open-Label, Phase 1b, Multiple Ascending Dose Study of OM336 in Participants with Active Sjogren’s Disease or Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522343-18-00·Authorised, recruiting·A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial to Assess the Efficacy and Safety of surlorian (ARM210, S48168) in Adults with Autosomal Dominant RYR1-Related Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524297-42-00·Authorised, ongoing·Duration of Dual Anti-Platelet Therapy in Chronic Limb Threatening Ischemia after Distal Revascularization: a randomized, double-blind trial
PALADIN [PeripherAL Arterial DIsease Network] -DAPTCLTI
skipped — LLM skipped (--skip-llm)
- ctis·2025-522060-32-00·Authorised·Randomised EValuation of Therapies for microvAscuLar Injury in STEACS – REVITALISE Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522834-30-01·Authorised·Fibroblast markers to tackle fibrosis in immune-mediated inflammatory diseases
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-523204-68-00·Authorised, recruiting·A Phase 2, randomized, multicenter, open-label neoadjuvant study evaluating zanidatamab in combination with chemotherapy in participants with HER2-positive breast cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522361-30-00·Authorised, recruiting·A Phase III, randomised, double-blind, placebo-controlled, parallel-group, pivotal trial to assess the efficacy and safety of sonlicromanol in adult subjects with a genetically confirmed mitochondrial DNA tRNALeu(UUR) m.3243A>G variant.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523091-23-00·Authorised, ongoing·ZANUBRUTINIB, A SECOND GENERATION BTK INHIBITOR, IN ANTI-MAG ANTIBODY NEUROPATHY: A PHASE II ITALIAN MULTICENTER CLINICAL TRIAL (MAZINGA)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522857-20-00·Authorised, ongoing·An open label, phase I/II study investigating the safety and efficacy of the bispecific T-cell engaging antibody cizutamig (BCMAxCD3) in patients with immune-mediated inflammatory diseases – the SPLENDID Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516898-72-00·Authorised, ongoing·Neoadjuvant gemcitabine and cisplatin in combination with perioperative pembrolizumab versus upfront surgery for patients with primary resectable and borderline resectable perihilar and distal cholangiocarcinoma (NEODISCO): A Multicentre Phase 2B/3 Randomised Controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521530-28-00·Authorised, ongoing·A phase I/II study of CAR-T cells in AutoiMmune disease resistant to B cell Abrogation - CARAMBA
skipped — LLM skipped (--skip-llm)
- ctis·2025-521268-37-00·Authorised, recruiting·A randomized, double-blind, placebo-controlled study to evaluate the effect of dupilumab on airway inflammation through assessments of mucus plugging and other lung imaging parameters in patients with chronic obstructive pulmonary disease (AEOLUS)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520461-41-00·Authorised, ongoing·An open-label Phase 2a study to evaluate the safety and efficacy of AlloNK®, an allogeneic cord blood-derived NK cell therapy, in combination with rituximab in relapsing forms of B-cell dependent rheumatologic diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-519706-13-00·Authorised, ongoing·Single vs. dual antiplatelet therapy in elderly or HBR patients undergoing percutaneous intervention with drug-coated balloons (PICCOLETO IV-EPIC 38)
skipped — LLM skipped (--skip-llm)
- ctis·2024-520222-11-00·Authorised, recruiting·A Long-Term Follow-up Study for Subjects Previously Treated with A Century Therapeutics Cellular Therapy Product
skipped — LLM skipped (--skip-llm)
- ctis·2024-517681-41-00·Authorised, ongoing·A Phase 1 Study of Healthy Donor CD19-targeted Allogeneic CAR T Cells in Participants with Severe, Refractory Autoimmune Diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-520372-10-00·Authorised, ongoing·Resistance training and rapamycin to enhance bone formation in postmenopausal women (STRONGBONE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519015-34-00·Authorised, ongoing·A Study to Investigate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AZD5492 in Adult Participants with Systemic Lupus Erythematosus or Idiopathic Inflammatory Myopathies or Rheumatoid Arthritis.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513435-24-01·Cancelled·J4F-MC-CYAB: A Phase 2, Randomized, Double-Blind, Placebo Controlled, Dose-Finding Study Evaluating LY3848575 in Chronic Neuropathic Pain Associated With Distal Sensory Polyneuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519532-16-00·Authorised, ongoing·A phase I/II study of CAR-expressing Allogenic iPSC derived NK cells for treatment of autoiMmune disease by B cELl depletion - CARAMEL
skipped — LLM skipped (--skip-llm)
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 FLNC-related handgrip and calf weakness-distal 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.
("FLNC-related handgrip and calf weakness-distal myopathy" OR "Distal ABD-filaminopathy" OR "myopathy, distal, type 4") OR ("FLNC" OR "FLNC syndrome" OR "FLNC-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"FLNC-related handgrip and calf weakness-distal myopathy" OR "Distal ABD-filaminopathy" OR "myopathy, distal, type 4"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"distal myopathy"
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 (3966) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T01:07:10.658Z