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ORPHA:320411

Autosomal recessive spastic paraplegia type 56

high confidenceDisorder

Also known as: SPG56

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

Publications

93

60.9th percentile

Trials

0

Interventional, condition-specific

Researchers

682

Distinct authors in sample

Gene link

CYP2U1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal , cognitive impairment and have also been associated.

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)

CYP2U1 hereditary spastic paraplegia · autosomal recessive spastic paraplegia type 56 · hereditary spastic paraplegia caused by mutation in CYP2U1 · hereditary spastic paraplegia type 56

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 — CYP2U1

  2. LiteraturePresent

    93 matched papers (73 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 (CYP2U1).

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?

93

93 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.

93 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).

73 in the last 10 years · high confidence · 60.9th percentile (publications denominator)

Phrase hits: 93 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

682

Distinct author names in 93 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
    Santorelli FM8 papers · 2024

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.

    Papers in Europe PMC
  2. 02
    Stevanin 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
  3. 03
    Tessa A6 papers · 2024

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.

    Papers in Europe PMC
  4. 04
    Darios F4 papers · 2021

    Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.

    Papers in Europe PMC
  5. 05
    Durr A4 papers · 2021

    Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.

    Papers in Europe PMC
  6. 06
    Silvestri G4 papers · 2024

    UOC Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.

    Papers in Europe PMC
  7. 07
    Boucher JL3 papers · 2021

    UMR 8601 CNRS, University Paris Descartes, Paris Sorbonne Cité, Paris, France.

    Papers in Europe PMC
  8. 08
    Casali C3 papers · 2024

    Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 40100 Latina, Italy.

    Papers in Europe PMC
  9. 09
    Goizet C3 papers · 2021

    INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme. Bordeaux University, Bordeaux, France.

    Papers in Europe PMC
  10. 10
    Houlden H3 papers · 2024

    Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.

    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). 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.

high 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

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.

"Autosomal recessive spastic paraplegia type 56" OR "SPG56" OR "CYP2U1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in CYP2U1" OR "hereditary spastic paraplegia type 56"

Run this search on Europe PMC

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

"Autosomal recessive spastic paraplegia type 56" OR "SPG56" OR "CYP2U1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in CYP2U1" OR "hereditary spastic paraplegia type 56" OR "CYP2U1"

Recall-expansion terms: CYP2U1

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

Parent-category trials query:

"paraplegia"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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

Ingested 2026-07-27T13:33:56.963Z