ORPHA:178461
X-linked myopathy with postural muscle atrophy
Also known as: XMPMA
Publications
3,197
Trials
0
Interventional, condition-specific
Researchers
521
Distinct authors in sample
Gene link
FHL1
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare muscular characterized by an adult-onset scapulo-axio-peroneal . Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
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:0010401
- OMIM:300696
- UMLS:C2678055
Additional Mondo synonyms (1)
myopathy, X-linked, with postural muscle atrophy, X-linked 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
Definitive — FHL1
- LiteraturePresent
3,197 matched papers (2,011 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Elevated circulating creatine kinase activity; Scoliosis; Hamstring contractures) 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 (FHL1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0010401
- Elevated circulating creatine kinase activity
- Scoliosis
- Hamstring contractures
- Respiratory insufficiency
- Rimmed vacuoles
Showing 5 of 19 — 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?
3,197
3,197 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.
3,197 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).
2,011 in the last 10 years · low confidence
Phrase hits: 71 · MeSH hits: 0
Who's working on it?
521
Distinct author names in 71 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.
- 01Schoser B9 papers · 2024
Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Ziemssenstr. 1a, 80336 Munich, Germany. bschoser@med.uni-muenchen.de
Papers in Europe PMC - 02Windpassinger C7 papers · 2025
Neurogenetics Section, The Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, M5T 1R8, Canada. christian.windpassinger@meduni-graz.at
Papers in Europe PMC - 03Bönnemann CG5 papers · 2023
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Papers in Europe PMC - 04Quasthoff S5 papers · 2020
Department of Neurology, Medical University of Graz, Auenbruggerplatz 22, 8036, Graz, Austria.
Papers in Europe PMC - 05Bonne G4 papers · 2014
Inserm, U974, Paris F-75013, France; Sorbonne Universités, UPMC Univ Paris 06, Myology Center of Research, UM76; CNRS FRE 3617, Institut de Myologie, Paris F-75013, France; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique Moléculaire, Service de Biochimie Métabolique, Paris F-75013, France. Electronic address: g.bonne@institut-myologie.org.
Papers in Europe PMC - 06Mitchell CA4 papers · 2014
Department of Biochemistry & Molecular Biology, Faculty of Medicine, Nursing & Health Sciences, Monash University, Clayton, VIC 3800, Australia christina.mitchell@monash.edu.
Papers in Europe PMC - 07Schessl J4 papers · 2013
Division of Neurology, The Children's Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 08Straub V4 papers · 2022
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Papers in Europe PMC - 09McGrath MJ3 papers · 2014
Department of Biochemistry & Molecular Biology, Faculty of Medicine, Nursing & Health Sciences, Monash University, Clayton, VIC 3800, Australia.
Papers in Europe PMC - 10Wehnert M3 papers · 2020
Institute of Human Genetics, University of Greifswald, Greifswald, Germany.
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 53 · after dedupe 53 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 53 · 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 (53)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
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·2025-522834-30-01·Authorised·Fibroblast markers to tackle fibrosis in immune-mediated inflammatory diseases
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
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·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
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·2024-520222-11-00·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·2024-519015-34-00·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·2024-516347-41-00·Expired·PAXIS: A randomized, double-blind, placebo-controlled dose-finding phase 2 study (Part 1) followed by an open-label period (Part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome
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·2024-512700-18-00·Expired·Long-Term Follow-up of Fabry Disease Subjects who were Treated with ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy
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·2024-518989-27-01·Cancelled·Treating Leg Symptoms in Women with X-linked Adrenoleukodystrophy: A Key to Improving Sleep and Gait Performance
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 X-linked myopathy with postural muscle atrophy — 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.
("X-linked myopathy with postural muscle atrophy" OR "XMPMA" OR "myopathy, X-linked, with postural muscle atrophy, X-linked recessive") OR ("FHL1" OR "FHL1 syndrome" OR "FHL1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked myopathy with postural muscle atrophy" OR "XMPMA" OR "myopathy, X-linked, with postural muscle atrophy, X-linked 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: 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 (3197) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:52:01.310Z