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ORPHA:64

Alström syndrome

low confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,613

Trials

5

Interventional, condition-specific

Researchers

1,084

Distinct authors in sample

Gene link

ALMS1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare multisystemic disorder characterized by cone-rod , hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated (DCM), and hepatic and renal dysfunction.

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 (5)

ALMS · ALSS · Alstrom syndrome · Alstrom's syndrome · Alström 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ALMS1

  2. LiteraturePresent

    1,613 matched papers (1,017 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov (2 recruiting in sample)

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 (ALMS1).

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?

1,613

1,613 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=5449) is 41.

1,613 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).

1,017 in the last 10 years · low confidence

Phrase hits: 1,613 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,084

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
    Geberhiwot T12 papers · 2026

    Inherited Metabolic Disorders, Department of Endocrinology, Queen Elizabeth Hospital Birmingham, Birmingham, U.K.

    Papers in Europe PMC
  2. 02
    Leeson-Beevers K10 papers · 2026

    Alström Syndrome, London, UK.

    Papers in Europe PMC
  3. 03
    Baig S6 papers · 2026

    Department of Cardiology, University Hospital Birmingham NHS Foundation Trust, Birmingham, Birmingham, UK.

    Papers in Europe PMC
  4. 04
    Chitty LS6 papers · 2026

    North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  5. 05
    Fisher J6 papers · 2026

    Antenatal Results and Choices, London, UK.

    Papers in Europe PMC
  6. 06
    Gehmlich K6 papers · 2024

    Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.

    Papers in Europe PMC
  7. 07
    Hill M6 papers · 2026

    North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  8. 08
    Li Y6 papers · 2026

    Beijing Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  9. 09
    Maffei P6 papers · 2025

    Department of Medicine, University of Padua, Padua, Italy.

    Papers in Europe PMC
  10. 10
    Peter M6 papers · 2026

    North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-26

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.

"Alström syndrome" OR "Alstrom syndrome" OR "Alstrom's syndrome"

Run this search on Europe PMC

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

"Alström syndrome" OR "Alstrom syndrome" OR "Alstrom's syndrome" OR "ALMS1"

Recall-expansion terms: ALMS1

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: 5 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ALMS; ALSS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:17:30.442Z