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ORPHA:99013

Spastic paraplegia type 7

low confidenceDisorder

Also known as: SPG7

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

Publications

1,700

Trials

0

Interventional, condition-specific

Researchers

1,274

Distinct authors in sample

Gene link

SPG7

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of spastic characterized by an onset usually in adulthood (but ranging from 10-72 years) of bilateral lower limb weakness and spasticity and sometimes predominant cerebellar . In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical , nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory , muscle atrophy, parkinsonism, and dystonia.

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 (5)

SPG7 hereditary spastic paraplegia · hereditary spastic paraplegia 7 · hereditary spastic paraplegia caused by mutation in SPG7 · hereditary spastic paraplegia type 7 · spastic paraplegia type 7

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 — SPG7

  2. LiteraturePresent

    1,700 matched papers (1,241 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Babinski sign; Lower limb hypertonia; Dysarthria) 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 (SPG7).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

73

Associated phenotypes · MONDO:0011803

  • Babinski sign
  • Lower limb hypertonia
  • Dysarthria
  • Pes cavus
  • Spastic gait

Showing 5 of 73 — 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?

1,700

1,700 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.

1,700 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).

1,241 in the last 10 years · low confidence

Phrase hits: 171 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,274

Distinct author names in 171 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
    Synofzik M10 papers · 2025

    Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of TübingenTübingen, Germany; German Research Center for Neurodegenerative DiseasesTübingen, Germany.

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

    Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Stella Maris Pisa Italy.

    Papers in Europe PMC
  3. 03
    van de Warrenburg BP8 papers · 2025

    Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  4. 04
    Schüle R7 papers · 2025

    3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen, Germany12 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave, Miami, FL 33136, USA.

    Papers in Europe PMC
  5. 05
    Brais B6 papers · 2025

    Departments of Neurology and Neurosurgery and Human Genetics, Montreal Neurological Institute-Hospital, Faculty of Medicine, McGill University, University Street, Montreal, Quebec, 3801H3A 2B4, Canada.

    Papers in Europe PMC
  6. 06
    Casari G5 papers · 2026

    Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli-Naples, Italy; Vita-Salute San Raffaele University, Milan, Italy. Electronic address: casari.giorgio@hsr.it.

    Papers in Europe PMC
  7. 07
    Cocozza S5 papers · 2025

    Department of Advanced Biomedical Sciences Federico II University Naples Italy.

    Papers in Europe PMC
  8. 08
    La Piana R5 papers · 2024

    Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.

    Papers in Europe PMC
  9. 09
    Satolli S5 papers · 2026

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.

    Papers in Europe PMC
  10. 10
    Traschütz A5 papers · 2025

    Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Tübingen, Germany

    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 Spastic paraplegia type 7 — 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.

("Spastic paraplegia type 7" OR "SPG7 hereditary spastic paraplegia" OR "hereditary spastic paraplegia 7" OR "hereditary spastic paraplegia caused by mutation in SPG7" OR "hereditary spastic paraplegia type 7") OR (MESH:"Spastic Paraplegia 7, Autosomal Recessive") OR ("SPG7" OR "SPG7 syndrome" OR "SPG7-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic Paraplegia 7, Autosomal Recessive

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

"Spastic paraplegia type 7" OR "SPG7 hereditary spastic paraplegia" OR "hereditary spastic paraplegia 7" OR "hereditary spastic paraplegia caused by mutation in SPG7" OR "hereditary spastic paraplegia type 7" OR "Spastic Paraplegia 7, Autosomal Recessive"

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

Synonyms dropped by stoplist: SPG7

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
  • Publication count (1700) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:53:30.507Z