ORPHA:228366
CLN7 disease
Also known as: NCL7 · Neuronal ceroid lipofuscinosis type 7
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
959
Trials
1
Interventional, condition-specific
Researchers
3,833
Distinct authors in sample
Gene link
MFSD8
Definitive
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuronal ceroid lipofuscinosis characterized by with myoclonic, atonic, and bilateral tonic-clonic , gait disturbance, and language difficulty/delay. motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-, however few juvenile-onset patients are reported.
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:0012588
- MeSH:C563989
- OMIM:610951
- UMLS:C1838571
Additional Mondo synonyms (6)
CLN7 · MFSD8 neuronal ceroid lipofuscinosis · ceroid lipofuscinosis, neuronal, type 7 · neuronal ceroid lipofuscinosis 7 · neuronal ceroid lipofuscinosis caused by mutation in MFSD8 · neuronal ceroid lipofuscinosis type 7
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.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MFSD8
- LiteraturePresent
959 matched papers (782 in last 10 years) Source
- Phenotype characterisedPresent
15 HPO annotations (e.g. Visual loss; Cerebral atrophy; Delayed speech and language development) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov
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 (MFSD8).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
15
Associated phenotypes · MONDO:0012588
- Visual loss
- Cerebral atrophy
- Delayed speech and language development
- Sleep disturbance
- Global developmental delay
Showing 5 of 15 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Mfsd8tm1a(EUCOMM)Hmgu/Mfsd8tm1a(EUCOMM)Hmgu [background:] involves: C57BL/6N·MGI:5604251·Mus musculus
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?
959
959 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.
959 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).
782 in the last 10 years · low confidence
Phrase hits: 175 · MeSH hits: 0
Who's working on it?
3,833
Distinct author names in 175 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Storch S14 papers · 2025
University Medical Center Hamburg-Eppendorf, Children's Hospital, University Children's Research@Kinder-UKE, Hamburg, Germany.
Papers in Europe PMC - 02Mole SE10 papers · 2024
MRC Laboratory for Molecular Cell Biology and Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Papers in Europe PMC - 03Wang Y9 papers · 2021
Saint Louis University, Department of Biology, Saint Louis, MO, USA.
Papers in Europe PMC - 04Zhang H8 papers · 2021
Thomas Jefferson University/Vickie & Jack Farber Institute for Neuroscience, Hospital for Neuroscience, Philadelphia, PA, USA.
Papers in Europe PMC - 05
- 06Huber RJ6 papers · 2023
Department of Biology, Trent University, 1600 West Bank Drive, Peterborough, Ontario, K9L 0G2, Canada. roberthuber@trentu.ca.
Papers in Europe PMC - 07Li Z6 papers · 2025
Southern Medical University, Shenzhen Hospital, Department of Pathology, Bao'an District, Shenzhen, Guangdong, China.
Papers in Europe PMC - 08Liu Y6 papers · 2025
Tsinghua Unversity, School of Life Sciences, Beijing, China.
Papers in Europe PMC - 09Schulz A6 papers · 2024
Professor of Pediatrics Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 10Zhang X6 papers · 2024
College of Respiratory and Critical Care Medicine, Chinese PLA General Hospital, Beijing, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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
- NCT04613089·RECRUITING·Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
Not reviewed·Conditions: Neuronal Ceroid Lipofuscinosis · Batten Disease · CLN1 Disease · CLN2 Disease·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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 CLN7 disease — check Associations / patient organisations on that page.
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.
("CLN7 disease" OR "Neuronal ceroid lipofuscinosis type 7" OR "MFSD8 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 7" OR "neuronal ceroid lipofuscinosis 7" OR "neuronal ceroid lipofuscinosis caused by mutation in MFSD8") OR (MESH:"Ceroid Lipofuscinosis, Neuronal, 7") OR ("MFSD8" OR "MFSD8 syndrome" OR "MFSD8-related" OR "CLN7" OR "CLN7 syndrome" OR "CLN7-related")MeSH descriptor terms unioned into the query: Ceroid Lipofuscinosis, Neuronal, 7
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLN7 disease" OR "Neuronal ceroid lipofuscinosis type 7" OR "MFSD8 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 7" OR "neuronal ceroid lipofuscinosis 7" OR "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" OR "Ceroid Lipofuscinosis, Neuronal, 7"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NCL7; CLN7
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (959) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T10:08:43.512Z