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ORPHA:468661

Autosomal recessive spastic paraplegia type 74

medium confidenceDisorder

Also known as: SPG74

Publications

427

78.1th percentile

Trials

0

Interventional, condition-specific

Researchers

40

Distinct authors in sample

Gene link

IBA57

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy--related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral , including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently 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 (3)

IBA57 hereditary spastic paraplegia · hereditary spastic paraplegia caused by mutation in IBA57 · hereditary spastic paraplegia type 74

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

    Limited — IBA57

  2. LiteraturePresent

    427 matched papers (336 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Spastic paraplegia; Peripheral axonal neuropathy; Progressive spastic paraplegia) 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?

Possibly — only limited evidence so far for IBA57.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0014644

  • Spastic paraplegia
  • Peripheral axonal neuropathy
  • Progressive spastic paraplegia
  • Visual impairment
  • EMG: neuropathic changes

Showing 5 of 28 — 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?

427

427 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.

427 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).

336 in the last 10 years · medium confidence · 78.1th percentile (publications denominator)

Phrase hits: 12 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

40

Distinct author names in 12 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
    Ahmed AE1 paper · 2021

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

    Papers in Europe PMC
  2. 02
    Baggiani M1 paper · 2024

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.

    Papers in Europe PMC
  3. 03
    Baines CP1 paper · 2020

    1Dalton Cardiovascular Research Center, University of Missouri, Columbia, MO 65211 USA.

    Papers in Europe PMC
  4. 04
    Baker MJ1 paper · 2022

    Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria 3052, Australia.

    Papers in Europe PMC
  5. 05
    Bis-Brewer DM1 paper · 2018

    Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, United States.

    Papers in Europe PMC
  6. 06
    Blackstone C1 paper · 2018

    Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2A-201, 9000 Rockville Pike, Bethesda, MD 20892, USA. Electronic address: blackstc@ninds.nih.gov.

    Papers in Europe PMC
  7. 07
    Crameri JJ1 paper · 2022

    Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria 3052, Australia.

    Papers in Europe PMC
  8. 08
    Damiani D1 paper · 2024

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.

    Papers in Europe PMC
  9. 09
    Dashek RJ1 paper · 2020

    2Department of Veterinary Pathobiology, University of Missouri, Columbia, MO 65211 USA.

    Papers in Europe PMC
  10. 10
    Della Vecchia S1 paper · 2024

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, 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).

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 74 — 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 74" OR "SPG74" OR "IBA57 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in IBA57" OR "hereditary spastic paraplegia type 74") OR ("IBA57" OR "IBA57 syndrome" OR "IBA57-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 74" OR "SPG74" OR "IBA57 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in IBA57" OR "hereditary spastic paraplegia type 74"

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

Ingested 2026-07-27T17:04:15.568Z