ORPHA:488594
Autosomal recessive spastic paraplegia type 76
Also known as: SPG76
Publications
2,096
Trials
0
Interventional, condition-specific
Researchers
736
Distinct authors in sample
Gene link
CAPN1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 76 is a rare, complex spastic paraplegia characterized by adult onset slowly , mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include , lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
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:0014827
- OMIM:616907
- UMLS:C5567483
Additional Mondo synonyms (4)
CAPN1 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in CAPN1 · hereditary spastic paraplegia type 76 · spastic paraplegia 76, autosomal recessive
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 — CAPN1
- LiteraturePresent
2,096 matched papers (1,493 in last 10 years) Source
- Phenotype characterisedPresent
46 HPO annotations (e.g. Dysmetria; Cerebellar atrophy; Nystagmus) 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 (CAPN1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
46
Associated phenotypes · MONDO:0014827
- Dysmetria
- Cerebellar atrophy
- Nystagmus
- Lower limb muscle weakness
- Distal sensory impairment
Showing 5 of 46 — 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?
2,096
2,096 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.
2,096 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).
1,493 in the last 10 years · low confidence
Phrase hits: 73 · MeSH hits: 0
Who's working on it?
736
Distinct author names in 73 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.
- 01Santorelli FM6 papers · 2026
Neurobiology and Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Papers in Europe PMC - 02Durr A5 papers · 2025
Paris Brain Institute (ICM), Inserm U 1127, CNRS UMR 7225, Sorbonne Université, Paris, France.
Papers in Europe PMC - 03Coarelli G4 papers · 2025
Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Sorbonne Université, Paris, France.
Papers in Europe PMC - 04Pedroso JL4 papers · 2025
Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Papers in Europe PMC - 05Stevanin G4 papers · 2023
Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne, Université, Paris.
Papers in Europe PMC - 06Alavi A3 papers · 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Papers in Europe PMC - 07Bassi MT3 papers · 2026
Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Lecco, Italy.
Papers in Europe PMC - 08Chen X3 papers · 2025
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 - 09Filosto M3 papers · 2026
Unit of Neurology, Center for Neuromuscular Diseases, ASST Spedali Civili and University of Brescia, Brescia, Italy.
Papers in Europe PMC - 10França MC Junior3 papers · 2025
Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
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 76 — 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 76" OR "SPG76" OR "CAPN1 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1" OR "hereditary spastic paraplegia type 76" OR "spastic paraplegia 76, autosomal recessive") OR ("CAPN1" OR "CAPN1 syndrome" OR "CAPN1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 76" OR "SPG76" OR "CAPN1 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1" OR "hereditary spastic paraplegia type 76" OR "spastic paraplegia 76, autosomal recessive"
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 (2096) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:25:11.960Z