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ORPHA:100993

Autosomal dominant spastic paraplegia type 12

low confidenceDisorder

Also known as: SPG12

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

613

Trials

0

Interventional, condition-specific

Researchers

627

Distinct authors in sample

Gene link

RTN2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A pure form of spastic paraplegia characterized by a childhood- to adulthood-onset of slowly lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

RTN2 hereditary spastic paraplegia · autosomal dominant spastic paraplegia type 12 · hereditary spastic paraplegia caused by mutation in RTN2 · hereditary spastic paraplegia type 12

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.

  1. Gene identifiedPresent

    Strong — RTN2

  2. LiteraturePresent

    613 matched papers (377 in last 10 years) Source

  3. Phenotype characterisedPresent

    65 HPO annotations (e.g. Hyperreflexia; Lower limb spasticity; Impaired vibration sensation in the lower limbs) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (RTN2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

65

Associated phenotypes · MONDO:0011489

  • Hyperreflexia
  • Lower limb spasticity
  • Impaired vibration sensation in the lower limbs
  • Clonus
  • Muscle spasm

Showing 5 of 65 — 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?

613

613 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.

613 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).

377 in the last 10 years · low confidence

Phrase hits: 105 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

627

Distinct author names in 105 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.

  1. 01
    Blackstone C8 papers · 2018

    Cell Biology Section, Neurogenetics Branch.

    Papers in Europe PMC
  2. 02
    Reid E7 papers · 2015

    Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke's Hospital, Cambridge, UK. ereid@hgmp.mrc.ac.uk

    Papers in Europe PMC
  3. 03
    Stevanin G6 papers · 2021

    Institut du Cerveau et de la Moelle Épinière, Paris, France12Laboratoire de Neurogénétique, École Pratique des Hautes Études-héSam Université, Institut du Cerveau et de la Moelle Épinière, Groupe Hospitalier Pitié-Salpêtrière, Paris, France13Sorbonne Univ.

    Papers in Europe PMC
  4. 04
    Orlacchio A5 papers · 2022

    Laboratorio di Neurogenetica, I.R.C.C.S. Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it

    Papers in Europe PMC
  5. 05
    Iqbal Z4 papers · 2017

    Department of Neurology, Oslo University Hospital, Oslo, Norway.

    Papers in Europe PMC
  6. 06
    O'Sullivan NC4 papers · 2024

    UCD School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, Dublin, Ireland.

    Papers in Europe PMC
  7. 07
    Shirane M4 papers · 2020

    Department of Molecular Biology, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Aichi, Japan. shiram@phar.nagoya-cu.ac.jp.

    Papers in Europe PMC
  8. 08
    Denton KR3 papers · 2016

    Department of Neuroscience, The University of Connecticut Health Center, Farmington, Connecticut, USA.

    Papers in Europe PMC
  9. 09
    Hübner CA3 papers · 2024

    Institute of Clinical Chemistry and Laboratory Diagnostics, Institute of Biochemistry I, Institute of Human Genetics, Electron Microscopy Center Institute of Anatomy I, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany. Zentrum für Molekulare Neurobiologie Hamburg (ZMNH), University Hamburg, Hamburg, Germany. Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne, EPFL, Lausanne, Switzerland. Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Department of Otorhinolaryngology, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany. Laboratory of Molecular Genetics — Genetic Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.

    Papers in Europe PMC
  10. 10
    Koht J3 papers · 2017

    Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

    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 dominant spastic paraplegia type 12 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 dominant spastic paraplegia type 12" OR "SPG12" OR "RTN2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in RTN2" OR "hereditary spastic paraplegia type 12") OR (MESH:"Spastic paraplegia 12, autosomal dominant") OR ("RTN2" OR "RTN2 syndrome" OR "RTN2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic paraplegia 12, autosomal dominant

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant spastic paraplegia type 12" OR "SPG12" OR "RTN2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in RTN2" OR "hereditary spastic paraplegia type 12" OR "Spastic paraplegia 12, autosomal dominant"

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 (613) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:09:18.541Z