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ORPHA:101011

Autosomal dominant spastic paraplegia type 31

low confidenceDisorder

Also known as: SPG31

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

Publications

1,040

Trials

0

Interventional, condition-specific

Researchers

1,346

Distinct authors in sample

Gene link

REEP1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare type of spastic paraplegia usually characterized by a pure of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex with additional associated manifestations including peripheral , bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

REEP1 hereditary spastic paraplegia · autosomal dominant spastic paraplegia type 31 · hereditary spastic paraplegia caused by mutation in REEP1 · hereditary spastic paraplegia type 31

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

    Definitive — REEP1

  2. LiteraturePresent

    1,040 matched papers (731 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Babinski sign; Lower limb spasticity; Skeletal muscle atrophy) 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 (REEP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0012453

  • Babinski sign
  • Lower limb spasticity
  • Skeletal muscle atrophy
  • Distal amyotrophy
  • Dysarthria

Showing 5 of 32 — 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?

1,040

1,040 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.

1,040 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).

731 in the last 10 years · low confidence

Phrase hits: 680 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,346

Distinct author names in 200 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
    Santorelli FM9 papers · 2025

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.

    Papers in Europe PMC
  2. 02
    Blackstone C7 papers · 2025

    Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland.

    Papers in Europe PMC
  3. 03
    Schöls L6 papers · 2025

    Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  4. 04
    Zhang J6 papers · 2026

    College of Animal Science and Technology, Yangzhou University, Yangzhou 225009, China.

    Papers in Europe PMC
  5. 05
    Liu X5 papers · 2026

    Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, Shanghai Academy of Natural Sciences (SANS), East China Normal University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Takiyama Y5 papers · 2022

    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi.

    Papers in Europe PMC
  7. 07
    Beetz C4 papers · 2026

    Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

    Papers in Europe PMC
  8. 08
    Chen S4 papers · 2025

    International Center for Aging and Cancer, Hainan Medical University, Haikou 571199, China.

    Papers in Europe PMC
  9. 09
    Durr A4 papers · 2025

    Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  10. 10
    Liu Y4 papers · 2026

    Cancer Hospital, The First Affiliated Hospital and College of Clinical Medicine, Henan University of Science and Technology, Luoyang, 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). 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 31 — 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 31" OR "SPG31" OR "REEP1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in REEP1" OR "hereditary spastic paraplegia type 31") OR (MESH:"Spastic Paraplegia 31, Autosomal Dominant") OR ("REEP1" OR "REEP1 syndrome" OR "REEP1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic Paraplegia 31, Autosomal Dominant

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

"Autosomal dominant spastic paraplegia type 31" OR "SPG31" OR "REEP1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in REEP1" OR "hereditary spastic paraplegia type 31" OR "Spastic Paraplegia 31, 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 (1040) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:12:43.133Z