ORPHA:636970
Autosomal recessive myosin storage myopathy
Also known as: MSMB
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
11,874
Trials
0
Interventional, condition-specific
Researchers
26
Distinct authors in sample
Gene link
MYH7
Strong
Readiness
4/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009708
- MeSH:C564970
- OMIM:255160
- UMLS:C1850709
Additional Mondo synonyms (2)
autosomal recessive myosin storage myopathy · myopathy, myosin storage, autosomal recessive
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 — MYH7
- LiteraturePresent
11,874 matched papers (8,773 in last 10 years) Source
- Phenotype characterisedPresent
30 HPO annotations (e.g. Loss of ambulation; Scapuloperoneal amyotrophy; Elevated circulating creatine kinase activity) 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; 182 for broader category 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 (MYH7).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
30
Associated phenotypes · MONDO:0009708
- Loss of ambulation
- Scapuloperoneal amyotrophy
- Elevated circulating creatine kinase activity
- Biventricular hypertrophy
- Elevated jugular venous pressure
Showing 5 of 30 — 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?
11,874
11,874 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
11,874 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).
8,773 in the last 10 years · low confidence
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
26
Distinct author names in 2 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.
- 01Álvarez-Rubio J1 paper · 2022
Cardiology Department, Hospital Universitario Son Llàtzer, 07198 Palma de Mallorca, Spain.
Papers in Europe PMC - 02Antoniutti G1 paper · 2022
Cardiology Department, Hospital Universitario Son Llàtzer, 07198 Palma de Mallorca, Spain.
Papers in Europe PMC - 03Caimi-Martinez FG1 paper · 2022
Cardiology Department, Hospital Universitario Son Llàtzer, 07198 Palma de Mallorca, Spain.
Papers in Europe PMC - 04Du L1 paper · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 05Fortuny-Frau E1 paper · 2022
Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain.
Papers in Europe PMC - 06Guo X1 paper · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 07Heine-Suner D1 paper · 2022
Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain.
Papers in Europe PMC - 08
- 09Huang J1 paper · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 10Li H1 paper · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
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). 182 trials are registered for 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.
182 interventional trials matched myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: myopathy
182
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
- NCT07412821·ENROLLING BY INVITATION·A Phase 1b Study of Adenylosuccinic Acid (ASA-001) for Adenylosuccinate Synthase 1 (ADSS1) Deficient Myopathy.
Conditions: Adenylosuccinate Synthase 1 Deficient Myopathy·Matched via name phrase
- NCT06371417·RECRUITING·Phase 1b Trial of RAY121 in Immunological Diseases (RAINBOW Trial)
Conditions: Antiphospholipid Syndrome (APS) · Bullous Pemphigoid (BP) · Behçet's Syndrome (BS) · Dermatomyositis (DM)·Matched via name phrase
- NCT06794008·RECRUITING·BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
Conditions: Systemic Lupus Erythematosus · Inflammatory Myopathy · Systemic Sclerosis (SSc) · ANCA-associated Vasculitis·Matched via name phrase
- NCT07293988·RECRUITING·Spastic Myopathy in Adults With Cerebral Palsy
Conditions: Cerebral Palsy (CP)·Matched via name phrase
- NCT05312424·RECRUITING·Annatto-derived GG for Statin-associated Myopathy
Conditions: Myopathy; Primary·Matched via name phrase
- NCT07490275·NOT YET RECRUITING·Allogeneic CD19/BCMA-Targeted CAR-γδT Cell Therapy: Safety and Preliminary Pharmacodynamics in Relapsed/Refractory Autoimmune Diseases
Conditions: Refractory/Relapsed Systemic Lupus Erythematosus · Refractory / Relapsed / Progressive Systemic Sclerosis · Refractory / Relapsing / Progressive Inflammatory Myopathy · Refractory / Relapsed Anti-Neutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis·Matched via name phrase
- NCT05979441·ENROLLING BY INVITATION·A Study to Assess the Long-term Safety and Efficacy of a Subcutaneous Formulation of Efgartigimod in Adults With Active Idiopathic Inflammatory Myopathy
Conditions: Myositis · Active Idiopathic Inflammatory Myopathy · Dermatomyositis · Polymyositis·Matched via name phrase
- NCT04086329·RECRUITING·Validation of Oxygen Nanosensor in Mitochondrial Myopathy
Conditions: Mitochondrial Myopathies · Mitochondrial Diseases·Matched via name phrase
- NCT04678635·RECRUITING·Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
Conditions: Myopathy·Matched via name phrase
- NCT07339540·RECRUITING·the Safety and Efficacy of Targeted BCMA In Vivo LV Injection for Recurrent or Refractory Autoimmune Diseases
Conditions: Recurrent or Refractory Systemic Lupus Erythematosus · Recurrent or Refractory IgG4 Related Diseases · Recurrent or Refractory Systemic Sclerosis · Recurrent or Refractory Idiopathic Inflammatory Myopathy·Matched via name phrase
- NCT07676266·NOT YET RECRUITING·A Study of C-CAR168 in the Treatment of Autoimmune Diseases Refractory to Standard Therapy
Conditions: Multiple Sclerosis (MS) · Myasthenia Gravis (MG) · Neuromyelitis Optica Spectrum Disorder · Systemic Lupus Erythematosus·Matched via name phrase
- NCT06614270·RECRUITING·Anti-CD19 IL-10/IL15 CAR-NK Cells in Refractory/Relapsed Autoimmune Diseases
Conditions: Systemic Sclerosis (SSc) · ANCA Associated Vasculitis (AAV) · Idiopathic Inflammatory Myopathy (IIM) · Sjogren's Syndrome·Matched via name phrase
- NCT07085676·RECRUITING·Phase 1 Study of HBI0101 CAR-T in Refractory B-Cell Autoimmune Diseases
Conditions: Systemic Sclerosis (SSc) · Idiopathic Inflammatory Myopathy (IIM) · Rheumatoid Arthritis (RA) · Systemic Lupus Erythematosus (SLE)·Matched via name phrase
- NCT05859997·ENROLLING BY INVITATION·Universal CAR-T Cells (BRL-301) in Relapse or Refractory Autoimmune Diseases
Conditions: Systemic Lupus Erythematosus (SLE) · Sjogren's Syndrome · Systemic Sclerosis · Inflammatory Myopathy·Matched via name phrase
- NCT07450690·RECRUITING·Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy
Conditions: Mitochondrial Diseases · Mitochondrial Myopathy·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 39 · after dedupe 38 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 38 · 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 (38)
- 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·2025-522834-30-01·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·2025-522361-30-00·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·2025-522857-20-00·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·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·2025-520461-41-00·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·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
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·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
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·2024-519532-16-00·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)
- ctis·2024-518797-13-00·Cancelled·The CALiPSO-1 Study: A Study of CNTY-101, a CD19-targeted CAR iNK Cell Product, in
Participants with Refractory B cell-mediated Autoimmune Diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-518528-54-00·Authorised, ongoing·A Phase 1 Study of the Safety and Preliminary Efficacy of CTX112 in Adult Subjects With Refractory Autoimmune Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514289-38-00·Authorised, ongoing·A phase III, double blind, randomised, two arms, parallel study to compare the efficacy and safety of a 12-week administration of two fixed-dose combinations (Rosuvastatin 20 mg and Fenofibrate 160 mg versus Pravastatin 40 mg and Fenofibrate 160 mg (Pravafenix®)) in patients with mixed dyslipidaemia.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511346-39-00·Authorised, recruiting·Phase IB open label, long-term, extension basket trial of RAY121 to inhibit classical complement pathway in immunological diseases (RAINBOW-LTE trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514648-10-00·Authorised, ongoing·C0251010 - A PHASE 3, MULTI-CENTER, OPEN-LABEL EXTENSION STUDY TO INVESTIGATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF DAZUKIBART IN PARTICIPANTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES (INCLUDING PARTICIPANTS WITH DERMATOMYOSITIS OR POLYMYOSITIS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512840-52-00·Cancelled·Evaluation of the efficacy and safety of empagliflozin in the treatment of neutropenia in patients with glycogenosis Ib. EMPAtia.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515129-27-00·Authorised·Assess efficacy of intra-arterial autologous myogenic stam cell therapy for m.3243A>G mutation carriers
skipped — LLM skipped (--skip-llm)
- ctis·2024-516057-42-00·Cancelled·Intravenous immunoglobulin and prednisone vs. prednisone in newly diagnosed myositis: a double blind randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516819-24-00·Authorised, ongoing·CAR-T cells in systemic B cell mediated autoimmune disease - CASTLE
skipped — LLM skipped (--skip-llm)
- ctis·2024-512785-33-00·Cancelled·A Phase 2/3, Randomized, Double-Blinded, Placebo-Controlled, Parallel-Group, 2-Arm, Multicenter, Operationally Seamless Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacodynamics, Pharmacokinetics, and Immunogenicity of Efgartigimod PH20 SC in Participants Aged 18 Years and Older With Active Idiopathic Inflammatory Myopathy
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 Autosomal recessive myosin storage 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.
("Autosomal recessive myosin storage myopathy" OR "myopathy, myosin storage, autosomal recessive") OR (MESH:"Myopathy, Hyaline Body, Autosomal Recessive") OR ("MYH7" OR "MYH7 syndrome" OR "MYH7-related")MeSH descriptor terms unioned into the query: Myopathy, Hyaline Body, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive myosin storage myopathy" OR "myopathy, myosin storage, autosomal recessive" OR "Myopathy, Hyaline Body, Autosomal Recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"myopathy"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MSMB
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (11874) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T19:30:08.080Z