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ORPHA:99015

Spastic paraplegia type 2

medium confidenceDisorder

Also known as: SPG2 · Spastic gait type 2 · Spastic paraparesis type 2 · X-linked spastic paraplegia type 2

Publications

160

57.1th percentile

Trials

0

Interventional, condition-specific

Researchers

849

Distinct authors in sample

Gene link

PLP1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, , or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.

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 (7)

PLP1 hereditary spastic paraplegia · hereditary spastic paraplegia caused by mutation in PLP1 · hereditary spastic paraplegia type 2 · spastic gait type 2 · spastic paraparesis type 2 · spastic paraplegia 2, X-linked, X-linked recessive · spastic paraplegia type 2

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.

  1. Gene identifiedPresent

    Definitive — PLP1

  2. LiteraturePresent

    160 matched papers (60 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 102 for broader category paraplegia

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 (PLP1).

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?

160

160 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.

160 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).

60 in the last 10 years · medium confidence · 57.1th percentile (publications denominator)

Phrase hits: 160 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

849

Distinct author names in 160 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
    Nave KA15 papers · 2023

    Department of Neurogenetics, Max-Planck-Institute of Experimental Medicine, 37075 Göttingen, Germany.

    Papers in Europe PMC
  2. 02
    Edgar JM11 papers · 2025

    Applied Neurobiology Group, Institute of Comparative Medicine, University of Glasgow, Bearsden, Glasgow G61 1QH, Scotland.

    Papers in Europe PMC
  3. 03
    Boespflug-Tanguy O10 papers · 2018

    Inserm U1141, Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France. odile.boespflug-tanguy@rdb.aphp.fr.

    Papers in Europe PMC
  4. 04
    Werner HB10 papers · 2026

    Department of Neurogenetics, Max Planck Institute of Experimental Medicine, D-37075 Goettingen, Germany. hauke@em.mpg.de

    Papers in Europe PMC
  5. 05
    Inoue K8 papers · 2020

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  6. 06
    Lupski JR8 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA and Texas Children's Hospital, Houston, TX 77030, USA jlupski@bcm.edu.

    Papers in Europe PMC
  7. 07
    Wight PA8 papers · 2022

    Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, 4301 W. Markham St., Little Rock, Arkansas 72205, USA. pwight@uams.edu

    Papers in Europe PMC
  8. 08
    Griffiths IR7 papers · 2015

    Department of Veterinary Clinical Studies, University of Glasgow, Bearsden, Glasgow G61 1QH, Scotland.

    Papers in Europe PMC
  9. 09
    Möbius W6 papers · 2026

    Department of Neurogenetics, Max-Planck-Institute of Experimental Medicine, Göttingen, Germany.

    Papers in Europe PMC
  10. 10
    Hobson GM5 papers · 2022

    Department of Research, Nemours Children's Health, Wilmington, DE, USA.

    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. 102 trials are registered for paraplegia, 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.

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.

102 interventional trials matched paraplegia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: paraplegia

102

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

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Spastic paraplegia type 2" OR "Spastic gait type 2" OR "Spastic paraparesis type 2" OR "X-linked spastic paraplegia type 2" OR "PLP1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in PLP1" OR "hereditary spastic paraplegia type 2" OR "spastic paraplegia 2, X-linked, X-linked recessive"

Run this search on Europe PMC

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

"Spastic paraplegia type 2" OR "Spastic gait type 2" OR "Spastic paraparesis type 2" OR "X-linked spastic paraplegia type 2" OR "PLP1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in PLP1" OR "hereditary spastic paraplegia type 2" OR "spastic paraplegia 2, X-linked, X-linked recessive" OR "PLP1"

Recall-expansion terms: PLP1

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"paraplegia"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SPG2

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 2026-07-27T05:54:00.166Z