ORPHA:320401
Autosomal recessive spastic paraplegia type 44
Also known as: SPG44
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
68
52.7th percentile
Trials
0
Interventional, condition-specific
Researchers
468
Distinct authors in sample
Gene link
GJC2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 44 (SPG44) is a very rare, complex form of spastic paraplegia characterized by a late-onset, slowly spastic paraplegia associated with mild and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.
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:0013179
- MeSH:C567707
- OMIM:613206
- UMLS:C2750784
Additional Mondo synonyms (3)
GJC2 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in GJC2 · hereditary spastic paraplegia type 44
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.”
2/6 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 — GJC2
- LiteraturePresent
68 matched papers (48 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (GJC2).
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?
68
68 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.
68 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).
48 in the last 10 years · high confidence · 52.7th percentile (publications denominator)
Phrase hits: 68 · MeSH hits: 0
Who's working on it?
468
Distinct author names in 68 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.
- 01Abrams CK8 papers · 2025
Department of Neurology and Physiology & Pharmacology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA. Charles.abrams@downstate.edu
Papers in Europe PMC - 02Freidin MM5 papers · 2025
Department of Neurology and Rehabilitation, University of Illinois at Chicago, 912 South Wood Street, Chicago, IL, United States of America. Electronic address: mfreidin@uic.edu.
Papers in Europe PMC - 03
- 04Lamantea E3 papers · 2014Papers in Europe PMC
- 05Scherer SS3 papers · 2014Papers in Europe PMC
- 06Schüle R3 papers · 2017
Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Papers in Europe PMC - 07Bauer P2 papers · 2022
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Papers in Europe PMC - 08Blackstone 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 - 09Boespflug-Tanguy O2 papers · 2014
Departments of Neurology (PL, CC-D, XA) and Neuroradiology (NMdC), CHU Montpellier; and Neuropédiatrie et Maladies Métaboliques and INSERM U676 (OB-T), National Reference Center for Leukodystrophies, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris-Université Paris Diderot, Paris, France.
Papers in Europe PMC - 10Dungan GD2 papers · 2025
Department of Neurology and Rehabilitation, University of Illinois at Chicago College of Medicine, Chicago, Illinois, USA.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 on the overview but are not added to the query string.
"Autosomal recessive spastic paraplegia type 44" OR "SPG44" OR "GJC2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" OR "hereditary spastic paraplegia type 44"
MeSH descriptor terms unioned into the query: Spastic Paraplegia 44, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 44" OR "SPG44" OR "GJC2 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" OR "hereditary spastic paraplegia type 44" OR "Spastic Paraplegia 44, Autosomal Recessive" OR "GJC2"
Recall-expansion terms: GJC2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T13:33:35.003Z