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ORPHA:100988

Autosomal dominant spastic paraplegia type 6

medium confidenceDisorder

Also known as: SPG6

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

13

27.5th percentile

Trials

0

Interventional, condition-specific

Researchers

132

Distinct authors in sample

Gene link

NIPA1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, pure or complex form of spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex with additional manifestations including , variable peripheral and/or memory impairment.

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 (5)

FSP3 · NIPA1 hereditary spastic paraplegia · autosomal dominant spastic paraplegia type 6 · hereditary spastic paraplegia caused by mutation in NIPA1 · hereditary spastic paraplegia type 6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — NIPA1

  2. LiteraturePresent

    13 matched papers (10 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 102 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 (NIPA1).

GenCC classification: Strong.

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?

13

13 papers have ever been indexed 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.

13 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).

10 in the last 10 years · medium confidence · 27.5th percentile (publications denominator)

Phrase hits: 13 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

132

Distinct author names in 13 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
    Ludolph AC2 papers · 2019

    Department of Neurology, Ulm University, Ulm, Germany.

    Papers in Europe PMC
  2. 02
    Robberecht W2 papers · 2019

    KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), Leuven, Belgium; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.

    Papers in Europe PMC
  3. 03
    Van Damme P2 papers · 2019

    KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), Leuven, Belgium; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.

    Papers in Europe PMC
  4. 04
    van den Berg LH2 papers · 2019

    Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  5. 05
    van Rheenen W2 papers · 2019

    Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  6. 06
    Veldink JH2 papers · 2019

    Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  7. 07
    Al-Chalabi A1 paper · 2019

    Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute, King's College London, London, UK; Department of Neurology, King's College Hospital, London, UK.

    Papers in Europe PMC
  8. 08
    Alcalá San Martín A1 paper · 2023

    Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases Hospital Sant Joan de Déu Barcelona Barcelona Spain.

    Papers in Europe PMC
  9. 09
    Alvi J1 paper · 2025

    Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore 54000, Punjab, Pakistan.

    Papers in Europe PMC
  10. 10
    Balsells S1 paper · 2023

    Department of Statistics Institut de Recerca Sant Joan de Déu Barcelona 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). 102 trials are registered for paraplegia, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

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

Broader category: paraplegia

102

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

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 2026-07-26

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 6" OR "NIPA1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in NIPA1" OR "hereditary spastic paraplegia type 6"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic paraplegia 6, autosomal dominant

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

"Autosomal dominant spastic paraplegia type 6" OR "NIPA1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in NIPA1" OR "hereditary spastic paraplegia type 6" OR "Spastic paraplegia 6, autosomal dominant" OR "NIPA1"

Recall-expansion terms: NIPA1

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, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SPG6; FSP3

Confidence reasoning

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

Ingested 2026-07-27T07:08:44.961Z