ORPHA:209951
Autosomal spastic paraplegia type 18
Also known as: SPG18
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
772
Trials
0
Interventional, condition-specific
Researchers
1,121
Distinct authors in sample
Gene link
ERLIN2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 18 (SPG18) is a rare, complex type of spastic paraplegia characterized by spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.
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:0012639
- MeSH:C567628
- UMLS:C2749936
Additional Mondo synonyms (6)
ERLIN2 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2 · autosomal recessive spastic paraplegia 18 · autosomal recessive spastic paraplegia type 18 · hereditary spastic paraplegia type 18 · intellectual disability, motor dysfunction and joint contractures
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 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 — ERLIN2
- LiteraturePresent
772 matched papers (558 in last 10 years) Source
- Phenotype characterisedPresent
70 HPO annotations (e.g. Loss of ambulation; Babinski sign; Scoliosis) 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 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 (ERLIN2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
70
Associated phenotypes · MONDO:0012639
- Loss of ambulation
- Babinski sign
- Scoliosis
- Seizure
- Urinary incontinence
Showing 5 of 70 — 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?
772
772 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.
772 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).
558 in the last 10 years · low confidence
Phrase hits: 190 · MeSH hits: 0
Who's working on it?
1,121
Distinct author names in 190 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.
- 01Stevanin G8 papers · 2021
Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France. giovanni.stevanin@upmc.fr.
Papers in Europe PMC - 02Sellers EW6 papers · 2015
Department of Psychology, East Tennessee State University, Johnson City, TN 37614, USA. sellers@etsu.edu.
Papers in Europe PMC - 03Rahman T5 papers · 2017
Department of Biomedical Research, Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19899, USA. trahman@nemours.org
Papers in Europe PMC - 04Wolpaw JR5 papers · 2015
Laboratory of Neural Injury and Repair, Wadsworth Center, New York State Department of Health, Albany, New York; and State University of New York, Albany, New York.
Papers in Europe PMC - 05Ryan DB4 papers · 2015
Department of Psychology, East Tennessee State University, Johnson City, TN 37614, USA.
Papers in Europe PMC - 06Wang J4 papers · 2024
School of Information Science and Technology, Nantong University, Nantong 226019, China.
Papers in Europe PMC - 07Huang-Pollock C3 papers · 2023
Department of Psychology, The Pennsylvania State University, University Park, PA, USA.
Papers in Europe PMC - 08McFarland DJ3 papers · 2015
Laboratory of Neural Injury and Repair, Wadsworth Center, New York State Department of Health, Albany, NY, USA; Helen Hayes Rehabilitation Hospital, New York State Department of Health, West Haverstraw, NY, USA.
Papers in Europe PMC - 09Townsend G3 papers · 2016
Laboratory of Neural Injury and Repair, Wadsworth Center, New York State Department of Health, Albany, NY, USA; Helen Hayes Rehabilitation Hospital, New York State Department of Health, West Haverstraw, NY, USA.
Papers in Europe PMC - 10Wang C3 papers · 2022
Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350005, China.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 Autosomal spastic paraplegia type 18 — 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.
("Autosomal spastic paraplegia type 18" OR "SPG18" OR "ERLIN2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2" OR "autosomal recessive spastic paraplegia 18" OR "autosomal recessive spastic paraplegia type 18" OR "hereditary spastic paraplegia type 18" OR "intellectual disability, motor dysfunction and joint contractures") OR (MESH:"Spastic Paraplegia 18, Autosomal Recessive") OR ("ERLIN2" OR "ERLIN2 syndrome" OR "ERLIN2-related")MeSH descriptor terms unioned into the query: Spastic Paraplegia 18, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal spastic paraplegia type 18" OR "SPG18" OR "ERLIN2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2" OR "autosomal recessive spastic paraplegia 18" OR "autosomal recessive spastic paraplegia type 18" OR "hereditary spastic paraplegia type 18" OR "intellectual disability, motor dysfunction and joint contractures" OR "Spastic Paraplegia 18, Autosomal Recessive"
Study-type breakdown: 0 interventional · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (772) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:27:00.231Z