ORPHA:352582
Familial infantile myoclonic epilepsy
Also known as: FIME · Familial infantile myoclonus epilepsy
Publications
1,448
Trials
0
Interventional, condition-specific
Researchers
1,523
Distinct authors in sample
Gene link
TBC1D24
Definitive
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:0011506
- OMIM:605021
- UMLS:C0917800
Additional Mondo synonyms (2)
familial infantile myoclonus epilepsy · myoclonic epilepsy, infantile, familial
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 — TBC1D24
- LiteraturePresent
1,448 matched papers (1,057 in last 10 years) Source
- Phenotype characterisedPresent
38 HPO annotations (e.g. Dysarthria; Thick cerebral cortex; EEG with focal spike waves) 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 myoclonic epilepsy
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 (TBC1D24).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
38
Associated phenotypes · MONDO:0011506
- Dysarthria
- Thick cerebral cortex
- EEG with focal spike waves
- Blepharospasm
- Motor delay
Showing 5 of 38 — 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?
1,448
1,448 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.
1,448 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).
1,057 in the last 10 years · low confidence
Phrase hits: 839 · MeSH hits: 0
Who's working on it?
1,523
Distinct author names in 200 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.
- 01Wang X9 papers · 2026
Department of Neonatology, Anhui Women and Children's Medical Center, No. 15, Yimin Street, Hefei, 230001, Anhui, China.
Papers in Europe PMC - 02Howell KB6 papers · 2026
Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 03Liu Y6 papers · 2025
From the Departments of Pediatrics/Child Neurology (Y.L., D.M.) and Pediatric Genetics (R.C., J.-A.G.), Loma Linda University Children's Hospital, CA. yiliu@llu.edu.
Papers in Europe PMC - 04Scheffer IE6 papers · 2026
Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 05Gardella E5 papers · 2025
Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, Dianalund, Denmark.
Papers in Europe PMC - 06McTague A5 papers · 2026
Neurosciences Unit, University College London, Institute of Child Health, London, UK.
Papers in Europe PMC - 07Poduri A5 papers · 2026
Children's Rare Disease Collaborative, Boston Children's Hospital, MA.
Papers in Europe PMC - 08Wang Y5 papers · 2025
Fifth Affiliated Hospital, Sun Yat-sen University-BGI Laboratory, Department of Experimental Medicine, Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, China.
Papers in Europe PMC - 09Zhang Y5 papers · 2026
Department of Pediatrics, Peking University First Hospital, No. 1 of Xian Men Street, Xicheng District, Beijing, 100034, China. Electronic address: zhangyhdr@126.com.
Papers in Europe PMC - 10Cross JH4 papers · 2026
Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
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 myoclonic epilepsy, 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 myoclonic epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: myoclonic epilepsy
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.
Recruiting under the broader category
- NCT07723963·NOT YET RECRUITING·A Study to Evaluate the Safety and Efficacy of JZP926 Capsule for the Treatment of Juvenile Myoclonic Epilepsy
Conditions: Juvenile Myoclonic Epilepsy·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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)
- ctis·2025-523662-24-00·Authorised·Phase 3 Single-Arm Open-Label Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent Subjects (age 12 to <18 years) with Homozygous Familial Hypercholesterolemia (SPRUCE)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525282-50-00·Authorised·A Phase 1b-2, Multicenter, Trial to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of REC-4881 in Patients with Familial Adenomatous Polyposis (FAP)
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·2025-522964-33-00·Authorised·A Phase 4, Multicenter, Double-blind, Study to Investigate the Efficacy, Safety, and Tolerability of 3 Active Doses of Respreeza® / Zemaira® Weekly Intravenous Infusions Administered over 3 Years as Longterm Maintenance Therapy in Adult Subjects with Emphysema Related to Alpha1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-521589-83-00·Authorised·Reassessment of statin-associated musscle symptoms in adults with familial hypercholesterolemia: A phase IV randomized double-blinded n-of-1 crossover trial including periods with atorvastatin, placebo and no study treatment
skipped — LLM skipped (--skip-llm)
- ctis·2025-524214-28-00·Authorised, recruiting·Randomized, Placebo-Controlled, Double-Blind, Phase 3b Study to Evaluate the Efficacy and Safety of Lerodalcibep in Children and Adolescents, 6 to 17 Years of Age, with Heterozygous Familial Hypercholesterolemia on Stable Diet and Oral Lipid-Lowering Therapy (LIBerate-Kids)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524265-24-00·Authorised, ongoing·A Double-Blind, Randomized, Comparative Study of Obicetrapib and Bempedoic Acid on top of Maximally Tolerated Lipid-Lowering Therapy in Patients With Dyslipidemia at High to Very High Cardiovascular Risk (MEDICI Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521154-42-00·Authorised, recruiting·Phase 2a, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety of Anumigilimab (CSL324) in Adults with Sickle Cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-521628-31-00·Authorised·A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects with Friedreich’s Ataxia
skipped — LLM skipped (--skip-llm)
- ctis·2023-507010-27-00·Authorised·CUSHMAH - Benefit of steroidogenesis inhibitors in Mild Cushing syndrome (Mild Autonomous Cortisol Secretion): a randomized trial in patients with Primary Bilateral Macronodular Adrenocortical Hyperplasia
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)
- ctis·2025-522383-33-00·Authorised, ongoing·A double blind, randomized, placebo-controlled exploratory trial to investigate the efficacy and safety of nerandomilast over 24 months when administered in individuals with interstitial lung abnormalities and a family history of pulmonary fibrosis to reduce the risk of worsening (DROP-FPF)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520622-38-00·Authorised·Personalized antibiotic TREATment for febrile Urinary Tract Infections in children (TREAT-UTI study): multicenter randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522553-19-00·Authorised, recruiting·A Phase 2b/3, Adaptive, Randomized, Double-blind, Placebo-controlled, Multicenter Study to Assess the Efficacy and Safety of Danicamtiv in Participants with Symptomatic Genetic and Familial Dilated Cardiomyopathy (KINSHIP-DCM).
skipped — LLM skipped (--skip-llm)
- ctis·2024-519068-42-00·Authorised, recruiting·An Operationally Seamless Phase 2/3 Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Enlicitide Decanoate in Pediatric Participants with Heterozygous Familial Hypercholesterolemia
skipped — LLM skipped (--skip-llm)
- ctis·2025-521792-31-01·Authorised, recruiting·Phase 3 Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent and Adult Subjects with Homozygous Familial Hypercholesterolemia (YOSEMITE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521013-10-00·Authorised, ongoing·A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP, MULTICENTER, PHASE 2B TRIAL TO ASSESS THE EFFICACY, SAFETY, AND TOLERABILITY OF AEF0217 FOR 24 WEEKS IN ADULTS AND OLDER ADOLESCENTS WITH DOWN SYNDROME
skipped — LLM skipped (--skip-llm)
- ctis·2025-520846-31-00·Authorised·Cannabidiol (Epidyolex) for behavioural problems in patients with Tuberous Sclerosis Complex, Sanfilippo and Fragile X syndrome: an N-of-1 series
skipped — LLM skipped (--skip-llm)
- ctis·2025-522946-37-00·Authorised, ongoing·A Phase 3, Multi-Site, Prospective, Randomized, Double-Blind, Placebo-Controlled Trial of eRapa to Improve Clinical Outcomes in Participants with Familial Adenomatous Polyposis
skipped — LLM skipped (--skip-llm)
- ctis·2024-519674-40-00·Authorised, recruiting·A Phase 1/2, Open-Label, Dose Finding Study to Investigate the Safety, Tolerability, and
Efficacy of ALXN2350 Gene Therapy in Adult Participants with Symptomatic BAG3
Mutation-Associated Dilated Cardiomyopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-520520-17-00·Expired·A Phase III, Randomised, Double-Blind, Placebo-Controlled, Parallel Group Study to Assess the Effect of AZD0780 on Low Density Lipoprotein Cholesterol in Patients With Heterozygous Familial Hypercholesterolaemia
skipped — LLM skipped (--skip-llm)
- ctis·2024-520413-53-00·Authorised, ongoing·A randomized, parallel-arm, double blind, placebo-controlled study to assess the efficacy of fampridine for patients with spinocerebellar ataxia SCA27B caused by a GAA expansion in the FGF14 gene.(TREAT-FGF14)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511985-34-00·Authorised, recruiting·Clairance de la morPHinE et filtration glomérulaire chez le Drepanocytaire en crise en REAnimation_PHEDREA
skipped — LLM skipped (--skip-llm)
- ctis·2025-521906-16-00·Expired·Evaluation of the efficacy and safety of drug treatment in familial polycythemia associated with an EPO gene mutation: a multicentre, open-label, phase I trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-514937-39-00·Authorised, ongoing·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Investigate the Efficacy, Safety, and Tolerability of LP352 in the Treatment of Seizures in Children and Adults with Dravet Syndrome
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 Familial infantile myoclonic epilepsy — 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.
("Familial infantile myoclonic epilepsy" OR "Familial infantile myoclonus epilepsy" OR "myoclonic epilepsy, infantile, familial") OR ("TBC1D24" OR "TBC1D24 syndrome" OR "TBC1D24-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial infantile myoclonic epilepsy" OR "Familial infantile myoclonus epilepsy" OR "myoclonic epilepsy, infantile, familial"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"myoclonic epilepsy"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FIME
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 (1448) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T14:14:14.250Z