ORPHA:431329
Autosomal recessive spastic paraplegia type 57
Also known as: SPG57 · Spastic paraplegia due to partial TFG deficiency
Publications
61
47.4th percentile
Trials
0
Interventional, condition-specific
Researchers
292
Distinct authors in sample
Gene link
TFG
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor . SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
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:0014295
- OMIM:615658
- UMLS:C3714897
Additional Mondo synonyms (5)
TFG hereditary spastic paraplegia · autosomal recessive spastic paraplegia type 57 · hereditary spastic paraplegia caused by mutation in TFG · hereditary spastic paraplegia type 57 · spastic paraplegia due to partial TFG deficiency
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.
- Gene identifiedPresent
Strong — TFG
- LiteraturePresent
61 matched papers (49 in last 10 years) Source
- Phenotype characterisedPresent
27 HPO annotations (e.g. Spasticity; Difficulty climbing stairs; Difficulty standing) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Yes — we know a specific gene responsible (TFG).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
27
Associated phenotypes · MONDO:0014295
- Spasticity
- Difficulty climbing stairs
- Difficulty standing
- Optic atrophy
- Spastic paraplegia
Showing 5 of 27 — 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?
61
61 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.
61 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).
49 in the last 10 years · high confidence · 47.4th percentile (publications denominator)
Phrase hits: 46 · MeSH hits: 0
Who's working on it?
292
Distinct author names in 46 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.
- 01Audhya A4 papers · 2022
Department of Biomolecular Chemistry, University of Wisconsin-Madison School of Medicine and Public Health, 440 Henry Mall, Madison, WI 53706, USA. Electronic address: audhya@wisc.edu.
Papers in Europe PMC - 02Chapman ER3 papers · 2022
Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin-Madison, Madison, WI 53705, USA.
Papers in Europe PMC - 03Johnson A3 papers · 2018
Department of Biomolecular Chemistry, University of Wisconsin-Madison School of Medicine and Public Health, 440 Henry Mall, Madison, WI 53706, USA.
Papers in Europe PMC - 04Stevanin G3 papers · 2021
Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France. giovanni.stevanin@upmc.fr.
Papers in Europe PMC - 05
- 06Beetz C2 papers · 2016
Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, 07747 Jena, Germany.
Papers in Europe PMC - 07Cao L2 papers · 2024
Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China.
Papers in Europe PMC - 08Chen X2 papers · 2023
Dr. Li Dak Sum-Yip Yio Chin Center for Stem Cells and Regenerative Medicine and Department of Orthopedic Surgery of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Papers in Europe PMC - 09Elsayed LEO2 papers · 2021
Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
Papers in Europe PMC - 10Ishiura H2 papers · 2019
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 113-8655 Tokyo, Japan. hishiura@yahoo.co.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.
high 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 57 — check Associations / patient organisations on that page.
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 57" OR "SPG57" OR "Spastic paraplegia due to partial TFG deficiency" OR "TFG hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in TFG" OR "hereditary spastic paraplegia type 57") OR ("TFG syndrome" OR "TFG-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 57" OR "SPG57" OR "Spastic paraplegia due to partial TFG deficiency" OR "TFG hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in TFG" OR "hereditary spastic paraplegia type 57"
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
Ingested 2026-07-27T15:59:26.399Z