ORPHA:320380
Autosomal recessive spastic paraplegia type 54
Also known as: SPG54
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
99
62.4th percentile
Trials
0
Interventional, condition-specific
Researchers
697
Distinct authors in sample
Gene link
DDHD2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 54 (SPG54) is a rare, complex form of spastic paraplegia characterized by the onset in early childhood of spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
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:0014018
- OMIM:615033
- UMLS:C3539495
Additional Mondo synonyms (4)
DDHD2 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in DDHD2 · autosomal recessive spastic paraplegia type 54 · hereditary spastic paraplegia type 54
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
Definitive — DDHD2
- LiteraturePresent
99 matched papers (79 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?
Yes — we know a specific gene responsible (DDHD2).
GenCC classification: Definitive.
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?
99
99 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.
99 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).
79 in the last 10 years · high confidence · 62.4th percentile (publications denominator)
Phrase hits: 99 · MeSH hits: 0
Who's working on it?
697
Distinct author names in 99 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.
- 01
- 02Stevanin G4 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 - 03Wang C4 papers · 2024
Department of Neurology, The First Affiliated Hospital of Xiamen University, Xiamen, China.
Papers in Europe PMC - 04Baba T3 papers · 2020
School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Japan.
Papers in Europe PMC - 05Cravatt BF3 papers · 2018
The Skaggs Institute for Chemical Biology and Departments of Chemical Physiology and cravatt@scripps.edu.
Papers in Europe PMC - 06Durr A3 papers · 2022
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 - 07Inloes JM3 papers · 2018
The Skaggs Institute for Chemical Biology and Departments of Chemical Physiology and.
Papers in Europe PMC - 08Koh K3 papers · 2020
Department of Clinical Research (Y.O., M. Yoshita), National Hospital Organization, Hokuriku National Hospital, Nanto; Department of Neurology (K.K., Y.T.), Graduate School of Medical Science, University of Yamanashi, Tyuo; Department of Neurology (H.I.), The University of Tokyo; Department of Molecular Neurology (S.T.), Graduate School of Medicine, The University of Tokyo; Institute of Medical Genomics (S.T.), International University of Health and Welfare, Chiba; and Department of Neurology and Neurobiology of Aging (M. Yamada), Kanazawa University Graduate School of Medical Sciences, Japan.
Papers in Europe PMC - 09Kumar KR3 papers · 2021
Departments of Neurology and Neurogenetics Kolling Institute of Medical Research and Royal North Shore Hospital University of Sydney Sydney New South Wales Australia.
Papers in Europe PMC - 10Li Y3 papers · 2025
Department of Human Anatomy, School of Basic Medicine and Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan Province, China.
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 recessive spastic paraplegia type 54" OR "SPG54" OR "DDHD2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" OR "hereditary spastic paraplegia type 54"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 54" OR "SPG54" OR "DDHD2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" OR "hereditary spastic paraplegia type 54" OR "DDHD2"
Recall-expansion terms: DDHD2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T13:32:52.770Z