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ORPHA:100986

Autosomal recessive spastic paraplegia type 5A

high confidenceDisorder

Also known as: SPG5A

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

Publications

78

54.7th percentile

Trials

0

Interventional, condition-specific

Researchers

568

Distinct authors in sample

Gene link

CYP7B1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

spastic paraplegia type 5A is a form of spastic paraplegia characterized by either a pure of slowly spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.

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)

CYP7B1 pure or complex autosomal recessive spastic paraplegia · autosomal recessive spastic paraplegia type 5A · hereditary spastic paraplegia type 5A · pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1 · spastic paraplegia type 5B, recessive

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 — CYP7B1

  2. LiteraturePresent

    78 matched papers (54 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 (CYP7B1).

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?

78

78 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.

78 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).

54 in the last 10 years · high confidence · 54.7th percentile (publications denominator)

Phrase hits: 78 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

568

Distinct author names in 78 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
    Stevanin G5 papers · 2021

    Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.

    Papers in Europe PMC
  2. 02
    Rouleau GA4 papers · 2019

    McGill University, Montreal, QC, Canada.

    Papers in Europe PMC
  3. 03
    Wang Y3 papers · 2025

    , , ,

    Papers in Europe PMC
  4. 04
    Boukhris A2 papers · 2013

    Service de Neurologie, Hôpital Universitaire Habib Bourguiba, 3029 Sfax, Tunisia.

    Papers in Europe PMC
  5. 05
    Brice A2 papers · 2013
    Papers in Europe PMC
  6. 06
    Crosby AH2 papers · 2003

    Department of Medical Genetics, St. George’s Hospital Medical School Department of Clinical Neurosciences, Royal Free and University College Medical School, London

    Papers in Europe PMC
  7. 07
    Dupré N2 papers · 2017

    Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.

    Papers in Europe PMC
  8. 08
    Durr A2 papers · 2013
    Papers in Europe PMC
  9. 09
    Fu J2 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Gonzalez MA2 papers · 2013
    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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.

high 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

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

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 recessive spastic paraplegia type 5A" OR "SPG5A" OR "CYP7B1 pure or complex autosomal recessive spastic paraplegia" OR "hereditary spastic paraplegia type 5A" OR "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1" OR "spastic paraplegia type 5B, recessive"

Run this search on Europe PMC

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

"Autosomal recessive spastic paraplegia type 5A" OR "SPG5A" OR "CYP7B1 pure or complex autosomal recessive spastic paraplegia" OR "hereditary spastic paraplegia type 5A" OR "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1" OR "spastic paraplegia type 5B, recessive" OR "CYP7B1"

Recall-expansion terms: CYP7B1

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"paraplegia"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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

Ingested 2026-07-27T07:08:33.847Z