ORPHA:468661
Autosomal recessive spastic paraplegia type 74
Also known as: SPG74
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
12
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
40
Distinct authors in sample
Gene link
IBA57
Limited
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014644
- OMIM:616451
- UMLS:C5568837
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.”
2/6 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.
- Gene identifiedPresent
Limited — IBA57
- LiteraturePresent
12 matched papers (11 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
12
12 papers have ever been indexed 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.
12 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).
11 in the last 10 years · high confidence · 28.7th percentile (publications denominator)
Phrase hits: 12 · MeSH hits: 0
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.
- 01Ahmed AE1 paper · 2021
Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 02Baggiani 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 - 03Baines CP1 paper · 2020
1Dalton Cardiovascular Research Center, University of Missouri, Columbia, MO 65211 USA.
Papers in Europe PMC - 04Baker 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 - 05Bis-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 - 06Blackstone 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 - 07Crameri 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 - 08Damiani 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 - 09Dashek RJ1 paper · 2020
2Department of Veterinary Pathobiology, University of Missouri, Columbia, MO 65211 USA.
Papers in Europe PMC - 10Della 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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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"
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" OR "IBA57"
Recall-expansion terms: IBA57
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T17:04:15.568Z