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ORPHA:99013

Spastic paraplegia type 7

medium confidenceDisorder

Also known as: SPG7

Publications

171

71.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,274

Distinct authors in sample

Gene link

SPG7

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SPG7

  2. LiteraturePresent

    171 matched papers (135 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 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 (SPG7).

GenCC classification: Definitive.

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?

171

171 papers have ever been published on this condition (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.

171 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).

135 in the last 10 years · medium confidence · 71.7th percentile (publications denominator)

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?

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

  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?

1

interventional trials for this specific condition

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

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th 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

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.

"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"

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" OR "SPG7"

Recall-expansion terms: SPG7

Interventional trials matched via: recall-expansion (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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"paraplegia"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

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

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