ORPHA:513436
Autosomal recessive spastic paraplegia type 78
Also known as: SPG78
Publications
2,753
Trials
0
Interventional, condition-specific
Researchers
446
Distinct authors in sample
Gene link
ATP13A2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare complex spastic paraplegia characterized by mostly adult-onset spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory , and cerebellar symptoms like , dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.
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:0014975
- OMIM:617225
- UMLS:C5567893
Additional Mondo synonyms (4)
ATP13A2 hereditary spastic paraplegia · hereditary spastic paraplegia caused by mutation in ATP13A2 · spastic paraplegia 78, autosomal recessive · spastic paraplegia 78, autosomal recessive; SPG78
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 — ATP13A2
- LiteraturePresent
2,753 matched papers (2,035 in last 10 years) Source
- Phenotype characterisedPresent
56 HPO annotations (e.g. Dysarthria; Cerebral cortical atrophy; Peripheral axonal neuropathy) 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 (ATP13A2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
56
Associated phenotypes · MONDO:0014975
- Dysarthria
- Cerebral cortical atrophy
- Peripheral axonal neuropathy
- Neurogenic bladder
- Supranuclear gaze palsy
Showing 5 of 56 — 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?
2,753
2,753 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,753 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).
2,035 in the last 10 years · low confidence
Phrase hits: 58 · MeSH hits: 0
Who's working on it?
446
Distinct author names in 58 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.
- 01Schüle R4 papers · 2019
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 02Stevanin G4 papers · 2021
Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 75013 Paris, France.
Papers in Europe PMC - 03Bassi MT3 papers · 2025
Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.
Papers in Europe PMC - 04
- 05Santorelli FM3 papers · 2025
Department of Molecular Medicine, IRCCS Stella Maris Foundation, Calambrone, 56128 Pisa, Italy.
Papers in Europe PMC - 06Chen X2 papers · 2023
Department of Immunology and Microbiology, School of Life Sciences, Southern University of Science and Technology, 518055, Shenzhen, Guangdong, China.
Papers in Europe PMC - 07
- 08Dehay B2 papers · 2026
Univ. Bordeaux, CNRS, IMN, Bordeaux, France. benjamin.dehay@u-bordeaux.fr.
Papers in Europe PMC - 09Ishiura H2 papers · 2020
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 113-8655 Tokyo, Japan. hishiura@yahoo.co.jp.
Papers in Europe PMC - 10Jordanova A2 papers · 2022
Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen, Belgium.
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.
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.
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 78 — 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 78" OR "SPG78" OR "ATP13A2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in ATP13A2" OR "spastic paraplegia 78, autosomal recessive" OR "spastic paraplegia 78, autosomal recessive; SPG78") OR ("ATP13A2" OR "ATP13A2 syndrome" OR "ATP13A2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 78" OR "SPG78" OR "ATP13A2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in ATP13A2" OR "spastic paraplegia 78, autosomal recessive" OR "spastic paraplegia 78, autosomal recessive; SPG78"
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 (2753) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:58:05.329Z