ORPHA:411590
Wolfram-like syndrome
Publications
97
64.5th percentile
Trials
0
Interventional, condition-specific
Researchers
769
Distinct authors in sample
Gene link
WFS1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013673
- MeSH:C565631
- OMIM:614296
- UMLS:C3280358
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
Definitive — WFS1
- LiteraturePresent
97 matched papers (89 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 (WFS1).
GenCC classification: Definitive.
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?
97
97 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.
97 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).
89 in the last 10 years · high confidence · 64.5th percentile (publications denominator)
Phrase hits: 97 · MeSH hits: 0
Who's working on it?
769
Distinct author names in 97 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.
- 01Delprat B6 papers · 2025
MMDN, Université Montpellier, EPHE, INSERM, Montpellier, France.
Papers in Europe PMC - 02Schrauwen I6 papers · 2025
Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 630 W 168th St, New York, NY, 10032, USA.
Papers in Europe PMC - 03Acharya A5 papers · 2025
Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 630 W 168th St, New York, NY, 10032, USA.
Papers in Europe PMC - 04Bharadwaj T5 papers · 2025
Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 630 W 168th St, New York, NY, 10032, USA.
Papers in Europe PMC - 05Leal SM5 papers · 2025
Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 630 W 168th St, New York, NY, 10032, USA.
Papers in Europe PMC - 06Maurice T5 papers · 2024
MMDN, Université Montpellier, EPHE, INSERM, Montpellier, France.
Papers in Europe PMC - 07Richard EM5 papers · 2025
MMDN, Université Montpellier, EPHE, INSERM, Montpellier, France.
Papers in Europe PMC - 08Alves S4 papers · 2025
MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France.
Papers in Europe PMC - 09
- 10De Muijnck C4 papers · 2025
Department of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
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
- NCT02841553·RECRUITING·Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
Conditions: Wolfram Syndrome · Diabetes Mellitus · Optic Nerve Atrophy · Deafness·Matched via recall expansion
- NCT07336966·NOT YET RECRUITING·Does Recessive Optic Atrophy Due to WFS1 Exist?
Conditions: Wolfram Syndrome 1 · Optic Atrophies, Hereditary·Matched via recall expansion
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.
"Wolfram-like syndrome"
MeSH descriptor terms unioned into the query: Wolfram-Like Syndrome, Autosomal Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Wolfram-like syndrome" OR "Wolfram-Like Syndrome, Autosomal Dominant" OR "WFS1"
Recall-expansion terms: WFS1
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, 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
Ingested 2026-07-27T15:38:15.489Z