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ORPHA:306511

Autosomal recessive spastic paraplegia type 48

medium confidenceDisorder

Also known as: SPG48

Publications

277

69.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,370

Distinct authors in sample

Gene link

AP5Z1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, pure or complex form of spastic paraplegia usually characterized by a pure of a slowly spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex , with the additional findings of cognitive impairment, sensorimotor polyneuropathy, , parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.

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)

AP5Z1 hereditary spastic paraplegia · autosomal recessive spastic paraplegia type 48 · hereditary spastic paraplegia caused by mutation in AP5Z1 · hereditary spastic paraplegia type 48

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — AP5Z1

  2. LiteraturePresent

    277 matched papers (220 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Urinary incontinence; Spastic paraparesis; Global developmental delay) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  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 (AP5Z1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0013342

  • Urinary incontinence
  • Spastic paraparesis
  • Global developmental delay
  • Peripheral neuropathy
  • Hyperintensity of cerebral white matter on MRI

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

277

277 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.

277 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).

220 in the last 10 years · medium confidence · 69.7th percentile (publications denominator)

Phrase hits: 198 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,370

Distinct author names in 198 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 C16 papers · 2025

    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892, USA.

    Papers in Europe PMC
  2. 02
    Stevanin G13 papers · 2021

    Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Inserm, U1127, F-75013 Paris, France; CNRS, UMR 7225, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France; Ecole Pratique des Hautes Etudes, PSL Research University, Laboratoire de Neurogénétique, F-75013 Paris, France. Electronic address: giovanni.stevanin@upmc.fr.

    Papers in Europe PMC
  3. 03
    Darios F8 papers · 2023

    Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Inserm, U1127, F-75013 Paris, France; CNRS, UMR 7225, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France. Electronic address: frederic.darios@upmc.fr.

    Papers in Europe PMC
  4. 04
    Hirst J8 papers · 2021

    Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, United Kingdom. jh228@cam.ac.uk

    Papers in Europe PMC
  5. 05
    Santorelli FM8 papers · 2024

    b Department of Molecular Medicine , IRCCS Fondazione Stella Maris , Calambrone, Pisa , Italy.

    Papers in Europe PMC
  6. 06
    Li Y6 papers · 2026

    Department of Colorectal Surgical Oncology, Harbin Medical University Cancer Hospital, Harbin, China.

    Papers in Europe PMC
  7. 07
    Schöls L6 papers · 2019

    Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany ; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.

    Papers in Europe PMC
  8. 08
    Schüle R6 papers · 2025

    Center for Neurology and Hertie Institute für Clinical Brain Research, University of Tübingen, German Center for Neurodegenerative Diseases, Tübingen, Germany.

    Papers in Europe PMC
  9. 09
    Bonifacino JS5 papers · 2024

    Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 juan.bonifacino@nih.gov.

    Papers in Europe PMC
  10. 10
    Hübner CA5 papers · 2025

    Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany.

    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.

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.

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 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 48 — 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 48" OR "SPG48" OR "AP5Z1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in AP5Z1" OR "hereditary spastic paraplegia type 48") OR ("AP5Z1" OR "AP5Z1 syndrome" OR "AP5Z1-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 48" OR "SPG48" OR "AP5Z1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in AP5Z1" OR "hereditary spastic paraplegia type 48"

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 (277) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T12:47:08.009Z