ORPHA:263516
Progressive myoclonic epilepsy type 3
Also known as: EPM3 · PME type 3 · Progressive myoclonic epilepsy due to KCTD7 deficiency · Progressive myoclonus epilepsy type 3
Publications
40
Trials
0
Interventional, condition-specific
Researchers
380
Distinct authors in sample
Gene link
KCTD7
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome characterized by - to early childhood-onset of myoclonic (occasionally accompanied by generalized tonic-clonic ) and severe, neurological regression, leading to psychomotor and cognitive decline, cerebellar , dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.
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:0012721
- MeSH:C567095
- OMIM:611726
- UMLS:C2673257
Additional Mondo synonyms (8)
CLN14 disease · KCTD7 progressive myoclonic epilepsy · epilepsy, progressive myoclonic 3, with or without intracellular inclusions · neuronal ceroid lipofuscinosis type 14 · progressive myoclonic epilepsy caused by mutation in KCTD7 · progressive myoclonic epilepsy due to KCTD7 deficiency · progressive myoclonic epilepsy type 3 · progressive myoclonus epilepsy type 3
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — KCTD7
- LiteraturePresent
40 matched papers (29 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 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 (KCTD7).
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?
40
40 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.
40 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).
29 in the last 10 years · low confidence
Phrase hits: 40 · MeSH hits: 0
Who's working on it?
380
Distinct author names in 40 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.
- 01Schulz A4 papers · 2019
Department of Pediatrics, University Medical Center Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
Papers in Europe PMC - 02Cotman SL3 papers · 2022
Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA. cotman@helix.mgh.harvard.edu
Papers in Europe PMC - 03Kohlschütter A3 papers · 2019
Department of Pediatrics, University Medical Center Eppendorf, Martinistr. 52, 20246, Hamburg, Germany. kohlschuetter@uke.uni-hamburg.de.
Papers in Europe PMC - 04Majethia P3 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 05Narayanan DL3 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 06Shukla A3 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.
Papers in Europe PMC - 07Bhat V2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 08Bielas S2 papers · 2024
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
Papers in Europe PMC - 09Girisha KM2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 10Mole SE2 papers · 2021
Inborn Errors of Metabolism Section, Genetics & Genomic Medicine Unit, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 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 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.
low 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.
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
Observational and natural-history studies
2 observational studies match 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
- NCT04613089·RECRUITING·Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
Conditions: Neuronal Ceroid Lipofuscinosis · Batten Disease · CLN1 Disease · CLN2 Disease·Matched via name phrase
- 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 2026-07-26Likely covered — the policy lists Neuronal ceroid lipofuscinosis as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Progressive myoclonic epilepsy type 3" OR "PME type 3" OR "Progressive myoclonic epilepsy due to KCTD7 deficiency" OR "Progressive myoclonus epilepsy type 3" OR "CLN14 disease" OR "KCTD7 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic 3, with or without intracellular inclusions" OR "neuronal ceroid lipofuscinosis type 14" OR "progressive myoclonic epilepsy caused by mutation in KCTD7"
MeSH descriptor terms unioned into the query: Epilepsy, Progressive Myoclonic 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive myoclonic epilepsy type 3" OR "PME type 3" OR "Progressive myoclonic epilepsy due to KCTD7 deficiency" OR "Progressive myoclonus epilepsy type 3" OR "CLN14 disease" OR "KCTD7 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic 3, with or without intracellular inclusions" OR "neuronal ceroid lipofuscinosis type 14" OR "progressive myoclonic epilepsy caused by mutation in KCTD7" OR "Epilepsy, Progressive Myoclonic 3" OR "KCTD7" OR "progressive myoclonus epilepsy" OR "variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration"
Recall-expansion terms: KCTD7, progressive myoclonus epilepsy, variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"myoclonic epilepsy"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EPM3
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "CLN14 disease" also appears on ORPHA:699708
- "neuronal ceroid lipofuscinosis type 14" also appears on ORPHA:699708
Ingested 2026-07-27T11:23:13.859Z