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ORPHA:631073

Autosomal recessive spastic paraplegia type 82

low confidenceDisorder

Publications

5,434

Trials

0

Interventional, condition-specific

Researchers

67

Distinct authors in sample

Gene link

PCYT2

Definitive

Readiness

4/6

Stages with a signal

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 (3)

SPG82 · autosomal recessive spastic paraplegia type 82 · spastic paraplegia 82, autosomal recessive

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — PCYT2

  2. LiteraturePresent

    5,434 matched papers (3,085 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Optic atrophy; Spasticity; Intellectual disability) 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 trialPartial

    None under the specific name; 104 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 (PCYT2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0032906

  • Optic atrophy
  • Spasticity
  • Intellectual disability
  • Hyperreflexia
  • Bilateral tonic-clonic seizure with generalized onset

Showing 5 of 14 — 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?

5,434

5,434 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,434 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).

3,085 in the last 10 years · low confidence

Phrase hits: 14 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

67

Distinct author names in 14 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
    Meyyazhagan A2 papers · 2022

    Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy.

    Papers in Europe PMC
  2. 02
    Orlacchio A2 papers · 2022

    Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy.

    Papers in Europe PMC
  3. 03
    Agarwal A1 paper · 2025

    Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  4. 04
    Ahmed AE1 paper · 2021

    Faculty of Medicine, University of Khartoum, Khartoum, Sudan.

    Papers in Europe PMC
  5. 05
    Aksoy Yasar FB1 paper · 2023

    Department of Cancer Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77054-1901, USA.

    Papers in Europe PMC
  6. 06
    Alavi A1 paper · 2021

    Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

    Papers in Europe PMC
  7. 07
    Bakovic M1 paper · 2022

    Department of Human Health and Nutritional Science, College of Biological Sciences, University of Guelph, Guelph, ON, Canada.

    Papers in Europe PMC
  8. 08
    Barnes-Vélez JA1 paper · 2023

    Department of Cancer Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77054-1901, USA.

    Papers in Europe PMC
  9. 09
    Benatar M1 paper · 2023

    Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, United States.

    Papers in Europe PMC
  10. 10
    Bernardi L1 paper · 2020

    Acquired Neuropsychological Disease Rehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Pieve di Soligo, Italy.

    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). 104 trials are registered for paraplegia, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

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

Broader category: paraplegia

104

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

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 6 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 82 — 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 82" OR "SPG82" OR "spastic paraplegia 82, autosomal recessive") OR ("PCYT2" OR "PCYT2 syndrome" OR "PCYT2-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 82" OR "SPG82" OR "spastic paraplegia 82, autosomal recessive"

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

Parent-category trials query:

"paraplegia"

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 (5434) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T19:25:06.821Z