ORPHA:163696
Action myoclonus-renal failure syndrome
Also known as: AMRF · EPM4 · Myoclonus-nephropathy syndrome · Progressive myoclonic epilepsy type 4 · Progressive myoclonus epilepsy type 4
Publications
127
61.9th percentile
Trials
0
Interventional, condition-specific
Researchers
811
Distinct authors in sample
Gene link
SCARB2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome characterized by myoclonus in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic , later and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral , sensorineural hearing loss and dilated are associated symptoms.
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:0009699
- OMIM:254900
- UMLS:C0751779
Additional Mondo synonyms (5)
action myoclonus-renal failure syndrome · epilepsy, progressive myoclonic 4, with or without renal failure · epilepsy, progressive myoclonic, 4, with or without renal failure · myoclonus-nephropathy syndrome · progressive myoclonic epilepsy 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SCARB2
- LiteraturePresent
127 matched papers (77 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (SCARB2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
127
127 papers have ever been published on this condition (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=5449) is 41.
127 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
77 in the last 10 years · medium confidence · 61.9th percentile (publications denominator)
Phrase hits: 127 · MeSH hits: 0
Who's working on it?
811
Distinct author names in 127 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.
- 01Berkovic SF9 papers · 2025
Department of Medicine, Austin Health and Northern Health, Heidelberg, Victoria 3081, Australia. s.berkovic@unimelb.edu.au
Papers in Europe PMC - 02Saftig P7 papers · 2017
Biochemical Institute, Christian-Albrechts University Kiel, Olshausenstrasse 40, D-24098, Kiel, Germany.
Papers in Europe PMC - 03Schwake M7 papers · 2017
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Papers in Europe PMC - 04Dibbens LM6 papers · 2013
Women's and Children's Hospital, North Adelaide, Australia.
Papers in Europe PMC - 05Andermann F5 papers · 2009Papers in Europe PMC
- 06Blanz J5 papers · 2016
Institute of Biochemistry, Christian-Albrechts-University of Kiel, 24098 Kiel, Germany;
Papers in Europe PMC - 07Gaspar P5 papers · 2018
Organelle Biogenesis & Function Group Instituto de Investigação e Inovação em Saúde (I3S) Porto Portugal; Institute of Molecular and Cell Biology (IBMC) Universidade do Porto Portugal; Instituto de Ciências Biomédicas Abel Salazar (ICBAS) Universidade do Porto Portugal.
Papers in Europe PMC - 08Zunke F5 papers · 2026
Institute of Biochemistry, Christian-Albrechts-University of Kiel, 24098 Kiel, Germany;
Papers in Europe PMC - 09Andermann E4 papers · 2009Papers in Europe PMC
- 10Bayly MA4 papers · 2013Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06593951·RECRUITING·Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Conditions: Progressive Myoclonus Epilepsy Type 1 · EPM1 · CSTB-related Disease · Myoclonus Epilepsies, Progressive·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Action myoclonus-renal failure syndrome" OR "Myoclonus-nephropathy syndrome" OR "Progressive myoclonic epilepsy type 4" OR "Progressive myoclonus epilepsy type 4" OR "epilepsy, progressive myoclonic 4, with or without renal failure" OR "epilepsy, progressive myoclonic, 4, with or without renal failure"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Action myoclonus-renal failure syndrome" OR "Myoclonus-nephropathy syndrome" OR "Progressive myoclonic epilepsy type 4" OR "Progressive myoclonus epilepsy type 4" OR "epilepsy, progressive myoclonic 4, with or without renal failure" OR "epilepsy, progressive myoclonic, 4, with or without renal failure" OR "SCARB2" OR "progressive myoclonus epilepsy"
Recall-expansion terms: SCARB2, progressive myoclonus epilepsy
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AMRF; EPM4
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T08:11:35.904Z