ORPHA:497906
Childhood-onset basal ganglia degeneration syndrome
Also known as: Lenk-Ploski syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
66
Distinct authors in sample
Gene link
VAC14
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurodegenerative disease characterized by sudden onset of motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.
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:0014889
- OMIM:617054
- UMLS:C4310743
Additional Mondo synonyms (4)
SNDC · childhood-onset basal ganglia degeneration syndrome · striatonigral Degeneration, childhood-onset · striatonigral degeneration, childhood-onset; SNDC
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
Strong — VAC14
- LiteraturePresent
7 matched papers (7 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 (VAC14).
GenCC classification: Strong.
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?
7
7 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=5449) is 41.
7 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).
7 in the last 10 years · medium confidence · 23.5th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
66
Distinct author names in 7 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.
- 01Li L2 papers · 2019
Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
Papers in Europe PMC - 02
- 03Bertola DR1 paper · 2023
Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 04Calakos N1 paper · 2025
Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
Papers in Europe PMC - 05Calder A1 paper · 2023
Radiology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Papers in Europe PMC - 06Chen A1 paper · 2024
Department of Pediatrics, The Second People's Hospital of Chengdu City, Chengdu, China.
Papers in Europe PMC - 07Chilton I1 paper · 2019
Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA.
Papers in Europe PMC - 08Chung WK1 paper · 2019
Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA.
Papers in Europe PMC - 09Cohn DH1 paper · 2023
Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.
Papers in Europe PMC - 10Cormier-Daire V1 paper · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
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).
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.
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.
"Childhood-onset basal ganglia degeneration syndrome" OR "Lenk-Ploski syndrome" OR "striatonigral Degeneration, childhood-onset" OR "striatonigral degeneration, childhood-onset; SNDC"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Childhood-onset basal ganglia degeneration syndrome" OR "Lenk-Ploski syndrome" OR "striatonigral Degeneration, childhood-onset" OR "striatonigral degeneration, childhood-onset; SNDC" OR "VAC14" OR "striatonigral degeneration"
Recall-expansion terms: VAC14, striatonigral degeneration
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SNDC
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
Ingested 2026-07-27T17:36:42.656Z