ORPHA:401810
Autosomal recessive spastic paraplegia type 64
Also known as: SPG64
Publications
3,536
Trials
0
Interventional, condition-specific
Researchers
238
Distinct authors in sample
Gene link
ENTPD1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 64 is an extremely rare and complex form of spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate . SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
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:0014303
- OMIM:615683
- UMLS:C3810289
Additional Mondo synonyms (4)
ENTPD1 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1 · autosomal recessive spastic paraplegia type 64 · hereditary spastic paraplegia type 64
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
Definitive — ENTPD1
- LiteraturePresent
3,536 matched papers (3,103 in last 10 years) Source
- Phenotype characterisedPresent
22 HPO annotations (e.g. Talipes equinovarus; Developmental cataract; Skeletal muscle atrophy) 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 (ENTPD1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
22
Associated phenotypes · MONDO:0014303
- Talipes equinovarus
- Developmental cataract
- Skeletal muscle atrophy
- Microcephaly
- Moderate intellectual disability
Showing 5 of 22 — 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?
3,536
3,536 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.
3,536 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).
3,103 in the last 10 years · low confidence
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
238
Distinct author names in 30 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.
- 01Barsottini OGP3 papers · 2023
Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Papers in Europe PMC - 02França MC Junior3 papers · 2023
Department of Neurology and Neuroimaging Laboratory, University of Campinas (UNICAMP), Campinas, Brazil.
Papers in Europe PMC - 03Pedroso JL3 papers · 2023
Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Papers in Europe PMC - 04Stevanin G3 papers · 2021
Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Papers in Europe PMC - 05Donis KC2 papers · 2022
Neurogenetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Papers in Europe PMC - 06Herman I2 papers · 2022
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 07Zaki MS2 papers · 2022
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Papers in Europe PMC - 08Abbaszadegan MR1 paper · 2022
Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
Papers in Europe PMC - 09Abdel-Salam GMH1 paper · 2014
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Papers in Europe PMC - 10Abdellateef M1 paper · 2014
Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
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 64 — 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 64" OR "SPG64" OR "ENTPD1 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" OR "hereditary spastic paraplegia type 64") OR ("ENTPD1" OR "ENTPD1 syndrome" OR "ENTPD1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 64" OR "SPG64" OR "ENTPD1 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" OR "hereditary spastic paraplegia type 64"
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 (3536) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:25:18.511Z