ORPHA:401800
Autosomal recessive spastic paraplegia type 60
Also known as: SPG60
Clinical definition (Orphanet)
spastic paraplegia type 60 is a rare, complex spastic paraplegia disorder characterized by onset of lower limb spasticity, inability to walk, and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal and mild .
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.
Is anyone studying this?
12
12 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=183) is 38.
12 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
6 in the last 10 years · high confidence · 24.3th percentile (publications denominator)
Is a treatment being tested?
18
trials for this specific condition
18 interventional trials matched this specific condition name; 9 currently recruiting in our sample.
Data as of 26 July 2026
18 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 89.8th percentile).
high confidence · 89.8th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
100
Distinct author names in 12 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.
- 01Stevanin G3 papers · 2021
Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Papers in Europe PMC - 02Abdel-Salam GMH1 paper · 2014
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Papers in Europe PMC - 03Abdellateef M1 paper · 2014
Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Papers in Europe PMC - 04Aguettaz AKF1 paper · 2024
Aging and Muscle Metabolism Lab, Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Bugnon 7, Lausanne, Vaud 1005, Switzerland.
Papers in Europe PMC - 05Ahmed AE1 paper · 2021
Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 06Akizu N1 paper · 2014
Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Papers in Europe PMC - 07Al-Aama JY1 paper · 2014
Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Papers in Europe PMC - 08Al-Allawi N1 paper · 2014
Department of Pathology, School of Medicine, University of Dohuk, Dohuk, Iraq.
Papers in Europe PMC - 09Amati F1 paper · 2024
Aging and Muscle Metabolism Lab, Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Bugnon 7, Lausanne, Vaud 1005, Switzerland.
Papers in Europe PMC - 10Arribat Y1 paper · 2024
Aging and Muscle Metabolism Lab, Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Bugnon 7, Lausanne, Vaud 1005, Switzerland.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
18 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07561359·12-Week Strength and Functional Exercise Program for Hereditary Spastic Paraplegia Trial (HSPMOVE)
- NCT07417943·Neuromodulation to Enhance Motor Function in HSP
- NCT07136844·Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
- NCT03206190·The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
- NCT06742697·Flexibility, Resistance, Aerobic, Movement Execution Training in Adults With Hereditary Spastic Paraplegia
- NCT07478172·Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
- NCT06478238·Calcium Folinate Treatment of Spastic Paraplegia 56
- NCT06948019·Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
- NCT06692712·Phase 3 Efficacy Study With Concurrent Control of IT MELPIDA in SPG50.Concurrent Controls.
Observational and natural-history studies
19 observational studies match 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
- NCT06844734·A Prospective Cohort Study of ITB Treatment for HSP
- NCT03981276·Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
- NCT06553976·Spastic Paraplegia - Centers of Excellence Research Network
- NCT04712812·Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
- NCT06936163·A Prospective Cohort Study of Surgical Treatment for Foot Deformities in HSP
- NCT05848271·Natural History Study of Patients with HPDL Mutations
- NCT06572046·STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
- NCT05354622·Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
- NCT06728787·Robot-assisted Walking Treatment in Hereditary Spastic Paraplegia (HSP)
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 2026-07-26This 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 below but are not added to the query string.
"Autosomal recessive spastic paraplegia type 60" OR "SPG60"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 60" OR "SPG60" OR "complex hereditary spastic paraplegia" OR "hereditary spastic paraplegia"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 18 interventional · 19 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5190589
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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