ORPHA:100996
Kjellin syndrome
Also known as: Autosomal recessive spastic paraplegia type 15 · Hereditary spastic paraparesis type 15 · SPG15 · Spastic paraplegia-retinal degeneration syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
779
Trials
0
Interventional, condition-specific
Researchers
1,372
Distinct authors in sample
Gene link
ZFYVE26
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 15 is a complex form of spastic paraplegia characterized by a childhood to adulthood onset of slowly lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild , mild cerebellar , peripheral (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
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:0010044
- MeSH:C536642
- OMIM:270700
- UMLS:C1849128
Additional Mondo synonyms (8)
ZFYVE26 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26 · autosomal recessive spastic paraplegia type 15 · hereditary spastic paraparesis type 15 · hereditary spastic paraplegia 15 · hereditary spastic paraplegia type 15 · spastic paraplegia and retinal degeneration · spastic paraplegia-retinal degeneration syndrome
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — ZFYVE26
- LiteraturePresent
779 matched papers (548 in last 10 years) Source
- Phenotype characterisedPresent
65 HPO annotations (e.g. Abnormality of extrapyramidal motor function; Leg muscle stiffness; Deep cerebral white matter hyperintensities) Source
- Animal modelPresent
2 genotype models (Danio rerio, Mus musculus) Source
- 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 (ZFYVE26).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
65
Associated phenotypes · MONDO:0010044
- Abnormality of extrapyramidal motor function
- Leg muscle stiffness
- Deep cerebral white matter hyperintensities
- Distal amyotrophy
- Hypoplasia of the corpus callosum
Showing 5 of 65 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- zfyve26ge1/ge1·ZFIN:ZDB-FISH-250821-2·Danio rerio
- Zfyve26tm1.1Cahb/Zfyve26tm1.1Cahb [background:] involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6·MGI:5749268·Mus musculus
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?
779
779 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
779 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).
548 in the last 10 years · low confidence
Phrase hits: 457 · MeSH hits: 0
Who's working on it?
1,372
Distinct author names in 200 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.
- 01Santorelli FM14 papers · 2026
Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56018 Pisa, Italy.
Papers in Europe PMC - 02Ebrahimi-Fakhari D10 papers · 2026
1 The F.M. Kirby Neurobiology Centre, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA 2 Division of Paediatric Neurology and Inherited Metabolic Diseases, Department of Paediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany darius.ebrahimi-fakhari@childrens.harvard.edu.
Papers in Europe PMC - 03Blackstone C9 papers · 2025
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 - 04
- 05Li XJ8 papers · 2025
Department of Biomedical Sciences, University of Illinois College of Medicine Rockford; Department of Bioengineering, University of Illinois at Chicago; xjli23@uic.edu.
Papers in Europe PMC - 06Bassi MT7 papers · 2025
Laboratory of Molecular Biology (M.T.B.), Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico E. Medea, Bosisio Parini, Lecco, Italy.
Papers in Europe PMC - 07Houlden H6 papers · 2024
Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; University College, London. Electronic address: h.houlden@ucl.ac.uk.
Papers in Europe PMC - 08Vantaggiato C6 papers · 2025
a Scientific Institute, IRCCS E. Medea, Laboratory of Molecular Biology , Bosisio Parini , Lecco , Italy.
Papers in Europe PMC - 09
- 10Hübner CA5 papers · 2025
Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany.
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.
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.
low 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.
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
- NCT04712812·RECRUITING·Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
Conditions: Hereditary Spastic Paraplegia · SPG47 · SPG50 · SPG51·Matched via name phrase
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 Kjellin syndrome — 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.
("Kjellin syndrome" OR "Autosomal recessive spastic paraplegia type 15" OR "Hereditary spastic paraparesis type 15" OR "SPG15" OR "Spastic paraplegia-retinal degeneration syndrome" OR "ZFYVE26 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" OR "hereditary spastic paraplegia 15" OR "hereditary spastic paraplegia type 15" OR "spastic paraplegia and retinal degeneration") OR (MESH:"Spastic paraplegia 15, autosomal recessive") OR ("ZFYVE26" OR "ZFYVE26 syndrome" OR "ZFYVE26-related")MeSH descriptor terms unioned into the query: Spastic paraplegia 15, autosomal recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Kjellin syndrome" OR "Autosomal recessive spastic paraplegia type 15" OR "Hereditary spastic paraparesis type 15" OR "SPG15" OR "Spastic paraplegia-retinal degeneration syndrome" OR "ZFYVE26 autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" OR "hereditary spastic paraplegia 15" OR "hereditary spastic paraplegia type 15" OR "spastic paraplegia and retinal degeneration" OR "Spastic paraplegia 15, autosomal recessive"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (779) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:09:56.998Z