ORPHA:972
Hereditary continuous muscle fiber activity
Publications
5
2.3th percentile
Trials
0
Interventional, condition-specific
Researchers
17
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
continuous muscle fiber activity is a rare, non-dystrophic characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
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:0019943
- UMLS:C1834559
Additional Mondo synonyms (4)
continuous muscle fiber activity hereditary · continuous muscle fiber activity, hereditary · continuous muscle fibre activity hereditary · continuous muscle fibre activity, hereditary
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.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5 matched papers (0 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Seizure; Ataxia; Spastic gait) 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 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
10
Associated phenotypes · MONDO:0019943
- Seizure
- Ataxia
- Spastic gait
- EMG abnormality
- Type 1 muscle fiber predominance
Showing 5 of 10 — 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?
5
5 papers have ever been indexed 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.
5 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).
0 in the last 10 years · high confidence · 2.3th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
17
Distinct author names in 5 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 N Jr1 paper · 1984Papers in Europe PMC
- 02Adlkofer K1 paper · 1997Papers in Europe PMC
- 03Bolton CF1 paper · 1991Papers in Europe PMC
- 04Hahn AF1 paper · 1991
Department of Clinical Neurological Sciences, University of Western Ontario, London, Canada.
Papers in Europe PMC - 05McGuire SA1 paper · 1984Papers in Europe PMC
- 06Parkes AW1 paper · 1991Papers in Europe PMC
- 07Ricker K1 paper · 1997Papers in Europe PMC
- 08Stapel S1 paper · 1997Papers in Europe PMC
- 09Stewart SA1 paper · 1991Papers in Europe PMC
- 10Suter U1 paper · 1997Papers 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).
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.
high 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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · dropped 0 · fetched 2026-07-29
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 (59)
- ctis·2025-523837-25-00·Authorised·4TAZPower: A Phase 3b/4, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Patients with Genetically Confirmed Barth Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524576-28-00·Authorised·Intrathecal Administration of MELPIDA For Hereditary Spastic Paraplegia Type 50 (SPG50): A multicenter Phase 3, Open-Label Trial with Matched Prospective Concurrent Control Arm (CT-MEL-03)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524481-15-00·Authorised·A Phase IIb, Non-Profit, Open-label Trial for the Intrathecal Administration of AAV9/AP4M1 for Hereditary Spastic Paraplegia Type 50 (SPG50).
skipped — LLM skipped (--skip-llm)
- ctis·2025-521353-16-00·Authorised·A Phase 3 Extension Study of siRNA Targeting of Prekallikrein With ADX-324 in Participants With Hereditary Angioedema
skipped — LLM skipped (--skip-llm)
- ctis·2024-514190-21-00·Authorised, ongoing·Long-term Follow-up (LTFU) Study of Participants in any iECURE Protocol Using an Investigational Product
skipped — LLM skipped (--skip-llm)
- ctis·2025-523497-16-00·Authorised·TSRA196-AAT-201: A Phase 1/2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and/or Liver Disease Associated with Severe Alpha-1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-522434-32-00·Authorised, recruiting·A MULTICENTER, RANDOMIZED, OPEN-LABEL, PHASE III CLINICAL TRIAL TO EVALUATE THE EFFICACY, SAFETY, PHARMACOKINETICS AND PHARMACODYNAMICS OF NXT007 PROPHYLAXIS VERSUS FACTOR VIII PROPHYLAXIS IN PEOPLE WITH HEMOPHILIA A WITHOUT INHIBITORS
skipped — LLM skipped (--skip-llm)
- ctis·2024-518043-38-00·11·MOOD - MethOxyflurane analgesia in vasoOcclusive crises of sickle cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524423-50-00·Authorised·An open-label, single-arm, phase 1/2 first-in-human study to assess the safety and efficacy of autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene (SGX-001) in paediatric and adult patients with chronic granulomatous disease caused by p47phox deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523400-72-00·Authorised·A Phase 2, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of VX‑828/Deutivacaftor With and Without Tezacaftor in Subjects Aged 18 Years and Older With Cystic Fibrosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-525073-37-00·Revoked·A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4771261 in healthy participants aged 25 to 55 years of age inclusive
skipped — LLM skipped (--skip-llm)
- ctis·2025-523811-12-00·Authorised·A Multicenter, Randomized, Operationally Seamless Phase 2/3 Study to Evaluate the Efficacy and Safety of BMN 333 versus Vosoritide in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-523738-21-00·Authorised·Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants with Fragile X Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-523793-16-00·Authorised, recruiting·A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study of the Efficacy and Safety of Vamifeport in Adult Subjects with HFE-related Hereditary Hemochromatosis (FERROCLEAR Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523558-14-00·Authorised·A Phase 1 Study of AIR-001 in Adults with AATD.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-523157-34-00·Authorised, recruiting·A Phase 3 randomized, double-blind, placebo-controlled, parallel group, multicenter study with open-label extension to evaluate the efficacy and safety of fenfluramine hydrochloride in study participants with Rett syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524195-29-00·Authorised·A randomized, placebo-controlled trial to assess the efficacy, tolerability, and pharmacokinetics of clemastine in children and adults with Pitt-Hopkins syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-522207-15-01·Authorised·An Open-label, Multicenter, Two Part, Ascending Dose Followed by a Controlled Trial to Assess the Safety and Efficacy of a Subretinal Administration of AAVB-039 in Participants with Stargardt Disease (STGD1) (CELESTE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524123-45-00·Authorised·Treatment of low-flow vascular malformations with bleomycin electrosclerotherapy (BEST)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524899-40-00·Authorised, ongoing·A First-in-Human Clinical Trial to Assess the Safety, Tolerability and Pharmacokinetics of MR-L45 in Healthy Adults
skipped — LLM skipped (--skip-llm)
- ctis·2024-519711-33-01·Authorised, ongoing·REVEAL Study: Phase 3 Study of the Efficacy and Safety of ION582 in Children and Adults with Angelman Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-522005-38-00·Authorised·Evaluation of the efficacy of iloprost in the management of vaso-occlusive crises in adult patients with sickle cell: a multicentre, randomised, double-blind, placebo-controlled study _ PROSTASICKLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524343-13-00·Authorised·Pilot study of the efficacy of nicotinamide (vitamin B3) in Leber's hereditary optic neuropathy - NICOLHON
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 Hereditary continuous muscle fiber activity — 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.
"Hereditary continuous muscle fiber activity" OR "continuous muscle fiber activity hereditary" OR "continuous muscle fiber activity, hereditary" OR "continuous muscle fibre activity hereditary" OR "continuous muscle fibre activity, hereditary"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary continuous muscle fiber activity" OR "continuous muscle fiber activity hereditary" OR "continuous muscle fiber activity, hereditary" OR "continuous muscle fibre activity hereditary" OR "continuous muscle fibre activity, hereditary"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-26T16:03:54.358Z