ORPHA:447753
Autosomal dominant spastic paraplegia type 9A
Also known as: AD-SPG9A · Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
31
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
191
Distinct authors in sample
Gene link
ALDH18A1
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare complex spastic paraplegia characterized by juvenile to adult onset of slowly spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor . Additional manifestations include bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.
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:0011006
- MeSH:C536868
- OMIM:601162
- UMLS:C5568978
Additional Mondo synonyms (2)
SPG9A · hereditary spastic paraplegia type 9A
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
Moderate — ALDH18A1
- LiteraturePresent
31 matched papers (31 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?
Probably — there is moderate evidence for ALDH18A1.
GenCC classification: Moderate.
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?
31
31 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=5449) is 41.
31 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).
31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
191
Distinct author names in 31 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.
- 01Panza E4 papers · 2025
Medical Genetics Unit, S. Orsola-Malpighi Hospital, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Papers in Europe PMC - 02Seri M3 papers · 2020
Medical Genetics Unit, S. Orsola-Malpighi Hospital, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Papers in Europe PMC - 03Escamilla-Honrubia JM2 papers · 2020
Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
Papers in Europe PMC - 04Ishiura H2 papers · 2021
Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Papers in Europe PMC - 05Koh K2 papers · 2021
Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.
Papers in Europe PMC - 06Magini P2 papers · 2019
Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy.
Papers in Europe PMC - 07Martinelli D2 papers · 2019
Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
Papers in Europe PMC - 08Orlacchio A2 papers · 2025
Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy.
Papers in Europe PMC - 09Reilly MM2 papers · 2024
Department of Neuromuscular Disease, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom.
Papers in Europe PMC - 10Rubio V2 papers · 2020
Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
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 dominant spastic paraplegia type 9A" OR "AD-SPG9A" OR "Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome" OR "Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" OR "SPG9A" OR "hereditary spastic paraplegia type 9A"
MeSH descriptor terms unioned into the query: Spastic paraplegia 9, autosomal dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant spastic paraplegia type 9A" OR "AD-SPG9A" OR "Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome" OR "Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" OR "SPG9A" OR "hereditary spastic paraplegia type 9A" OR "Spastic paraplegia 9, autosomal dominant" OR "ALDH18A1" OR "autosomal dominant spastic paraplegia type 9" OR "autosomal dominant complex spastic paraplegia"
Recall-expansion terms: ALDH18A1, autosomal dominant spastic paraplegia type 9, autosomal dominant complex spastic paraplegia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T16:31:43.520Z