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ORPHA:100994

Autosomal dominant spastic paraplegia type 13

low confidenceDisorder

Also known as: SPG13

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

10,733

Trials

0

Interventional, condition-specific

Researchers

758

Distinct authors in sample

Gene link

HSPD1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, pure or complex form of spastic paraplegia characterized by spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

HSPD1 hereditary spastic paraplegia · hereditary spastic paraplegia caused by mutation in HSPD1 · hereditary spastic paraplegia type 13

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — HSPD1

  2. LiteraturePresent

    10,733 matched papers (5,868 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Impaired vibration sensation in the lower limbs; Spastic gait; Urinary incontinence) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 104 for broader category paraplegia

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 (HSPD1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0011532

  • Impaired vibration sensation in the lower limbs
  • Spastic gait
  • Urinary incontinence
  • Urinary bladder sphincter dysfunction
  • Lower limb spasticity

Showing 5 of 26 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

10,733

10,733 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,733 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).

5,868 in the last 10 years · low confidence

Phrase hits: 130 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

758

Distinct author names in 130 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.

  1. 01
    Bross P11 papers · 2020

    Department of Integrative Physiology and Metabolism, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, USA. Department of Biomedicine, Aarhus University, Aarhus C, Denmark. Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Aarhus, Denmark.

    Papers in Europe PMC
  2. 02
    Conway de Macario E7 papers · 2020

    1Department of Microbiology and Immunology, School of Medicine, University of Maryland at Baltimore-Institute of Marine and Environmental Technology (IMET), Columbus Center, Baltimore, MD USA.

    Papers in Europe PMC
  3. 03
    Macario AJL7 papers · 2020

    Euro-Mediterranean Institute of Science and Technology (IEMEST), 90139, Palermo, Italy.

    Papers in Europe PMC
  4. 04
    Palmfeldt J6 papers · 2020

    Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital Aarhus, Denmark.

    Papers in Europe PMC
  5. 05
    Reid E6 papers · 2015

    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, United Kingdom. ereid@hgmp.mrc.ac.uk

    Papers in Europe PMC
  6. 06
    Cappello F5 papers · 2020

    Department of Biomedicine, Neurosciences and Advanced Diagnostics (BIND), Institute of Anatomy, University of Palermo, 90127, Palermo, Italy. francapp@hotmail.com.

    Papers in Europe PMC
  7. 07
    Christensen JH5 papers · 2014

    Department of Integrative Physiology and Metabolism, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, USA. Department of Biomedicine, Aarhus University, Aarhus C, Denmark. Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Aarhus, Denmark.

    Papers in Europe PMC
  8. 08
    Corydon TJ5 papers · 2016

    Department of Biomedicine, Aarhus University Aarhus, Denmark.

    Papers in Europe PMC
  9. 09
    Marino Gammazza A5 papers · 2020

    Dipartimento di Biomedicina Sperimentale e Neuroscienze Cliniche (BIONEC), Università degli Studi di Palermo, Via del Vespro 129, 90127 Palermo, Italy. antonella.marinogammazza@unipa.it.

    Papers in Europe PMC
  10. 10
    Stevanin G5 papers · 2021

    Department of Psychiatry (C.G.B., S.R., F.M.S.d.V., S.A.K.) and Department of Clinical Genetics (C.G.B., M.Q., G.J.B., H.B.B., V.B.), Erasmus MC, Rotterdam, The Netherlands; Sackler School of Medicine (Z.A., A.F.-V.), Tel-Aviv University, Ramat-Aviv; Pediatric Neurology Unit (A.F.-V.), Dana Children's Hospital, Tel-Aviv Medical Center, Israel; Department of Molecular Pharmacology (I.E.K., A.M.D.), Groningen Research Institute of Pharmacy, University of Groningen, The Netherlands; Clalit Health Services (R.M.), Sharon-Shomron, Hadera District; Faculty of Health Science (R.M.), Ben-Gurion University of the Negev, Beer Sheva; Metabolic Disease Unit (H.M.), Meyer Children's Hospital, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa; Nursing Research Unit (M.A.T.), Soroka University Medical Center and Faculty of Health Science, Ben Gurion University of the Negev, Be'er Sheva, Israel; Ecole Pratique des Hautes Etudes (G.S.), PSL Research University, Neurogenetics Laboratory; Institut du Cerveau et de la Moelle Epinière (G.S., A.B.), Sorbonne University, Pierre and Marie Curie University UMR_S1127, INSERM u1127, CNRS UMR5225, Paris, France; Center for Biomics (W.F.J.v.I.), Erasmus MC; Department of Epidemiology (M.W.V.) and Department of Radiology (M.W.V.), Erasmus MC, Rotterdam, The Netherlands.

    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). 104 trials are registered for paraplegia, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

104 interventional trials matched paraplegia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: paraplegia

104

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 dominant spastic paraplegia type 13 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 13" OR "SPG13" OR "HSPD1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in HSPD1" OR "hereditary spastic paraplegia type 13") OR (MESH:"Spastic paraplegia 13, autosomal dominant") OR ("HSPD1" OR "HSPD1 syndrome" OR "HSPD1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic paraplegia 13, autosomal dominant

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant spastic paraplegia type 13" OR "SPG13" OR "HSPD1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in HSPD1" OR "hereditary spastic paraplegia type 13" OR "Spastic paraplegia 13, autosomal dominant"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"paraplegia"

Query health: suspect — strategies attempted: phrase, mesh; 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 (10733) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:09:29.522Z