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ORPHA:816

Sjögren-Larsson syndrome

medium confidenceDisorder

Also known as: Fatty acid alcohol oxidoreductase deficiency

Publications

3,035

89.9th percentile

Trials

3

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

ALDH3A2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by ichthyosis, intellectual deficit, and spasticity.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

SLS · Senior-Løken Syndrome · Sjogren-Larsson syndrome · fatty acid alcohol oxidoreductase deficiency

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ALDH3A2

  2. LiteraturePresent

    3,035 matched papers (1,734 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Retinopathy; Dry skin; Hyperkeratosis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov

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 (ALDH3A2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

56

Associated phenotypes · MONDO:0010031

  • Retinopathy
  • Dry skin
  • Hyperkeratosis
  • Urticaria
  • Intellectual disability

Showing 5 of 56 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

2

Drugs / clinical candidates · MONDO_0010031

CTD chemicals (MyDisease.info)

1 associated chemical · 19 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bezafibrate · therapeutic

Pathways: Glycolysis / Gluconeogenesis; Ascorbate and aldarate metabolism; Fatty acid degradation; Valine, leucine and isoleucine degradation; Lysine degradation; Arginine and proline metabolism; Histidine metabolism; Tryptophan metabolism

MyDisease.info · MONDO:0010031

Literature

Is anyone studying this?

3,035

3,035 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.

3,035 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).

1,734 in the last 10 years · medium confidence · 89.9th percentile (publications denominator)

Phrase hits: 1,780 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,083

Distinct author names in 200 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.

  1. 01
    Rizzo WB14 papers · 2023

    Department of Pediatrics, University of Nebraska Medical Center, Nebraska Medical Center Omaha, Omaha, Nebraska.

    Papers in Europe PMC
  2. 02
    Staps P7 papers · 2024

    Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Nijmegen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Willemsen MAAP6 papers · 2024

    Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Nijmegen, The Netherlands.

    Papers in Europe PMC
  4. 04
    Li S5 papers · 2026

    From the The State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou 510060, China.

    Papers in Europe PMC
  5. 05
    Tsang SH5 papers · 2025

    Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

    Papers in Europe PMC
  6. 06
    Banin E4 papers · 2026

    Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

    Papers in Europe PMC
  7. 07
    Ferdinandusse S4 papers · 2025

    Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  8. 08
    Khateb S4 papers · 2026

    Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

    Papers in Europe PMC
  9. 09
    Kihara A4 papers · 2026

    Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; and.

    Papers in Europe PMC
  10. 10
    Sharma T4 papers · 2025

    Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. ts3118@cumc.columbia.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Sjögren-Larsson syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Sjögren-Larsson syndrome" OR "Fatty acid alcohol oxidoreductase deficiency" OR "Senior-Løken Syndrome" OR "Sjogren-Larsson syndrome") OR ("ALDH3A2" OR "ALDH3A2 syndrome" OR "ALDH3A2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Sjögren-Larsson syndrome" OR "Fatty acid alcohol oxidoreductase deficiency" OR "Senior-Løken Syndrome" OR "Sjogren-Larsson syndrome"

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: 3 interventional · 3 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

Synonyms dropped by stoplist: SLS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:31:06.688Z