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ORPHA:319199

Autosomal recessive spastic paraplegia type 53

medium confidenceDisorder

Also known as: SPG53

Publications

470

79.4th percentile

Trials

0

Interventional, condition-specific

Researchers

210

Distinct authors in sample

Gene link

VPS37A

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

spastic paraplegia type 53 (SPG53) is a very rare, complex type of spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

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 (5)

VPS37A autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in VPS37A · autosomal recessive spastic paraplegia type 53 · hereditary spastic paraplegia 53 · hereditary spastic paraplegia type 53

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

    Moderate — VPS37A

  2. LiteraturePresent

    470 matched papers (356 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Clonus; Upper limb hyperreflexia; Delayed speech and language development) 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?

Probably — there is moderate evidence for VPS37A.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

31

Associated phenotypes · MONDO:0013962

  • Clonus
  • Upper limb hyperreflexia
  • Delayed speech and language development
  • Pectus carinatum
  • Joint hypermobility

Showing 5 of 31 — 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?

470

470 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=3967) is 59.

470 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).

356 in the last 10 years · medium confidence · 79.4th percentile (publications denominator)

Phrase hits: 31 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

210

Distinct author names in 31 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
    Stevanin G3 papers · 2021

    Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 75013 Paris, France.

    Papers in Europe PMC
  2. 02
    Hata T2 papers · 2025

    Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

    Papers in Europe PMC
  3. 03
    Kim YJ2 papers · 2025

    Department of Biochemistry, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

    Papers in Europe PMC
  4. 04
    Koizumi S2 papers · 2025

    Department of Neuropharmacology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

    Papers in Europe PMC
  5. 05
    Nan H2 papers · 2025

    Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

    Papers in Europe PMC
  6. 06
    Ohtsuka T2 papers · 2025

    Department of Biochemistry, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

    Papers in Europe PMC
  7. 07
    Saito K2 papers · 2025

    Department of Neuropharmacology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

    Papers in Europe PMC
  8. 08
    Shimozono K2 papers · 2025

    Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

    Papers in Europe PMC
  9. 09
    Sun Y2 papers · 2024

    Department of Human Anatomy, School of Basic Medicine and Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan Province, China.

    Papers in Europe PMC
  10. 10
    Takiyama Y2 papers · 2025

    Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan. ytakiyama@yamanashi.ac.jp.

    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.

medium 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 recessive spastic paraplegia type 53 — 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 recessive spastic paraplegia type 53" OR "SPG53" OR "VPS37A autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" OR "hereditary spastic paraplegia 53" OR "hereditary spastic paraplegia type 53") OR ("VPS37A" OR "VPS37A syndrome" OR "VPS37A-related")

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 53" OR "SPG53" OR "VPS37A autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" OR "hereditary spastic paraplegia 53" OR "hereditary spastic paraplegia type 53"

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

Query health: ok — strategies attempted: phrase; 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 (470) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T13:18:17.350Z