ORPHA:320370
Autosomal recessive spastic paraplegia type 43
Also known as: SPG43
Clinical definition (Orphanet)
spastic paraplegia type 43 is a rare, complex spastic paraplegia characterized by a childhood to adolescent onset of lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also 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.
Is anyone studying this?
60
60 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=183) is 38.
60 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).
41 in the last 10 years · high confidence · 52.7th 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?
Possibly — only limited evidence so far for C19orf12.
GenCC classification: Limited.
Who's working on it?
424
Distinct author names in 60 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.
- 01Blackstone C4 papers · 2024
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 - 02Fischbeck KH4 papers · 2024
Neurogenetics Branch National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health (NIH) Bethesda Maryland.
Papers in Europe PMC - 03Landouré G4 papers · 2024
Service de NeurologieCentre Hospitalier Universitaire du Point "G"BamakoMali; Neurogenetics BranchNational Institute of Neurological Disorders and Stroke (NINDS)National Institutes of Health (NIH)BethesdaMaryland.
Papers in Europe PMC - 04
- 05Gahl WA3 papers · 2017
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Papers in Europe PMC - 06Meilleur KG3 papers · 2016
Tissue Injury Branch National Institute of Nursing Research (NINR) NIH Bethesda Maryland.
Papers in Europe PMC - 07Burnett BG2 papers · 2016
Departments of Anatomy, Physiology and Genetics Uniformed Services University of the Health Sciences (USUHS) Bethesda Maryland.
Papers in Europe PMC - 08Finazzi D2 papers · 2020
Department of Molecular and Translational Medicine, University of Brescia Brescia, Italy ; Spedali Civili di Brescia Brescia, Italy.
Papers in Europe PMC - 09Fink JK2 papers · 2013
Department of Neurology, University of Michigan and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, 5014 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA. jkfink@umich.edu
Papers in Europe PMC - 10Gonzalez MA2 papers · 2017
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
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 43" OR "SPG43" OR "C19orf12 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" OR "hereditary spastic paraplegia type 43"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 43" OR "SPG43" OR "C19orf12 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" OR "hereditary spastic paraplegia type 43" OR "C19orf12" 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): OMIM:615043 UMLS:C2680446
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