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ORPHA:100984

Autosomal dominant spastic paraplegia type 3

medium confidenceDisorder

Also known as: Autosomal dominant spastic paraplegia type 3A · SPG3A · Strümpell disease

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

Publications

1,577

87.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,234

Distinct authors in sample

Gene link

ATL1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, pure or complex form of spastic paraplegia, with variable , typically characterized by childhood-onset of minimally , bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild , axonal motor , and .

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

ATL1 hereditary spastic paraplegia · FSP1 · autosomal dominant spastic paraplegia type 3 · hereditary spastic paraplegia caused by mutation in ATL1 · hereditary spastic paraplegia type 3A · spastic Paraplegia 3A · spastic paraplegia 3a, autosomal dominant · strumpell disease

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ATL1

  2. LiteraturePresent

    1,577 matched papers (984 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Lower limb hyperreflexia; Babinski sign; Distal lower limb muscle weakness) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (ATL1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0008437

  • Lower limb hyperreflexia
  • Babinski sign
  • Distal lower limb muscle weakness
  • Spastic gait
  • Gait disturbance

Showing 5 of 38 — 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?

1,577

1,577 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.

1,577 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).

984 in the last 10 years · medium confidence · 87.3th percentile (publications denominator)

Phrase hits: 834 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,234

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Blackstone C10 papers · 2026

    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    Santorelli FM9 papers · 2026

    Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56018 Pisa, Italy.

    Papers in Europe PMC
  3. 03
    França MC Jr7 papers · 2026

    Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil. mcfjr@unicamp.br.

    Papers in Europe PMC
  4. 04
    Li XJ7 papers · 2025

    Department of Neuroscience and The Stem Cell Institute, University of Connecticut Health Center, Farmington, CT 06030, USA and xjli@uchc.edu.

    Papers in Europe PMC
  5. 05
    Ebrahimi-Fakhari D6 papers · 2026

    Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  6. 06
    Pedroso JL6 papers · 2026

    Department of Neurology, Federal University of São Paulo (UNIFESP), Sao Paulo, Brazil.

    Papers in Europe PMC
  7. 07
    Alecu JE5 papers · 2026

    Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

    Papers in Europe PMC
  8. 08
    González-Salazar C5 papers · 2026

    Graduate program in Medical Physiopathology, School of Medical Science, Universidade Estadual de Campinas, Campinas, Brazil.

    Papers in Europe PMC
  9. 09
    Liu X5 papers · 2025

    Department of Neurology, Peking University Third Hospital, Beijing, China.

    Papers in Europe PMC
  10. 10
    Zhang J5 papers · 2026

    Department of Neurological Diseases, Fuwai Central China Cardiovascular Hospital, Zhengzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 101 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 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: paraplegia

101

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

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 3 — 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 3" OR "Autosomal dominant spastic paraplegia type 3A" OR "SPG3A" OR "Strümpell disease" OR "ATL1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in ATL1" OR "hereditary spastic paraplegia type 3A" OR "spastic Paraplegia 3A" OR "spastic paraplegia 3a, autosomal dominant" OR "strumpell disease") OR (MESH:"Spastic paraplegia 3, autosomal dominant") OR ("ATL1" OR "ATL1 syndrome" OR "ATL1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic paraplegia 3, autosomal dominant

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

"Autosomal dominant spastic paraplegia type 3" OR "Autosomal dominant spastic paraplegia type 3A" OR "SPG3A" OR "Strümpell disease" OR "ATL1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in ATL1" OR "hereditary spastic paraplegia type 3A" OR "spastic Paraplegia 3A" OR "spastic paraplegia 3a, autosomal dominant" OR "strumpell disease" OR "Spastic paraplegia 3, autosomal dominant"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 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

Synonyms dropped by stoplist: FSP1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:08:08.857Z