ORPHA:459056
Autosomal recessive spastic paraplegia type 75
Also known as: SPG75
Publications
97
54.5th percentile
Trials
0
Interventional, condition-specific
Researchers
191
Distinct authors in sample
Gene link
MAG
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, complex spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral , extensor plantar responses and borderline to mild . Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014729
- OMIM:616680
- UMLS:C4225250
Additional Mondo synonyms (5)
MAG hereditary spastic paraplegia · autosomal recessive spastic paraplegia type 75 · hereditary spastic paraplegia caused by mutation in MAG · hereditary spastic paraplegia type 75 · spastic paraplegia 75, autosomal 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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — MAG
- LiteraturePresent
97 matched papers (81 in last 10 years) Source
- Phenotype characterisedPresent
44 HPO annotations (e.g. Distal lower limb amyotrophy; Astigmatism; Hypermetropia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (MAG).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
44
Associated phenotypes · MONDO:0014729
- Distal lower limb amyotrophy
- Astigmatism
- Hypermetropia
- Nystagmus
- Hyporeflexia
Showing 5 of 44 — 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?
97
97 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=3967) is 59.
97 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).
81 in the last 10 years · high confidence · 54.5th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
191
Distinct author names in 23 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.
- 01Blackstone C2 papers · 2018
Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2A-201, 9000 Rockville Pike, Bethesda, MD 20892, USA. Electronic address: blackstc@ninds.nih.gov.
Papers in Europe PMC - 02Houlden H2 papers · 2024
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Papers in Europe PMC - 03
- 04Abbaszadegan MR1 paper · 2022
Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
Papers in Europe PMC - 05Admard J1 paper · 2020
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 06Ahmed AE1 paper · 2021
Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 07Akram R1 paper · 2024
Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.
Papers in Europe PMC - 08Akter S1 paper · 2021
Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, Dhaka, 1205, Bangladesh.
Papers in Europe PMC - 09Al-Sannaa NA1 paper · 2022
Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.
Papers in Europe PMC - 10Alavi S1 paper · 2022
Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.
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).
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.
high 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 recessive spastic paraplegia type 75 — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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 75" OR "SPG75" OR "MAG hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in MAG" OR "hereditary spastic paraplegia type 75" OR "spastic paraplegia 75, autosomal recessive") OR ("MAG syndrome" OR "MAG-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 75" OR "SPG75" OR "MAG hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in MAG" OR "hereditary spastic paraplegia type 75" OR "spastic paraplegia 75, autosomal recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 2026-07-27T16:53:31.690Z