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ORPHA:64

Alström syndrome

low confidenceDisorder

Publications

2,471

Trials

5

Interventional, condition-specific

Researchers

1,075

Distinct authors in sample

Gene link

ALMS1

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ALMS1

  2. LiteraturePresent

    2,471 matched papers (1,690 in last 10 years) Source

  3. Phenotype characterisedPresent

    176 HPO annotations (e.g. Thoracic scoliosis; Hyperostosis frontalis interna; Retinal pigment epithelial atrophy) Source

  4. Animal modelPresent

    8 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. setmelanotide Source

  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)

176

Associated phenotypes · MONDO:0008763

  • Thoracic scoliosis
  • Hyperostosis frontalis interna
  • Retinal pigment epithelial atrophy
  • Puberty and gonadal disorders
  • Recurrent sinusitis

Showing 5 of 176 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA setmelanotideTreatment of Alström syndrome · 09/01/2020 · PositiveEMA designation
  • EMA 3-pentylbenzeneacetic acid sodium saltTreatment of Alström syndrome · 12/01/2017 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0008763

CTD chemicals (MyDisease.info)

2 associated chemicals · 13 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Metformin · therapeutic
  • Rosiglitazone · therapeutic

Pathways: Cell Cycle; Organelle biogenesis and maintenance; Regulation of PLK1 Activity at G2/M Transition; Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Centrosome maturation; Mitotic G2-G2/M phases

MyDisease.info · MONDO:0008763

Literature

Is anyone studying this?

2,471

2,471 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.

2,471 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).

1,690 in the last 10 years · low confidence

Phrase hits: 1,613 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,075

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

    Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2SQ, UK.

    Papers in Europe PMC
  2. 02
    Maffei P7 papers · 2025

    Department of Medicine (DIMED), Clinica Medica 3, Padua University Hospital, Padua, Italy. pietro.maffei@aopd.veneto.it.

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

    University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

    Papers in Europe PMC
  4. 04
    Bea-Mascato B6 papers · 2025

    CINBIO, Universidad de Vigo, Vigo, Spain.

    Papers in Europe PMC
  5. 05
    Dassie F6 papers · 2025

    Department of Medicine (DIMED), Clinica Medica 3, Padua University Hospital, Padua, Italy.

    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
    Leeson-Beevers K6 papers · 2026

    Alström Syndrome UK, Torquay, UK.

    Papers in Europe PMC
  8. 08
    Valverde D6 papers · 2025

    CINBIO, Universidad de Vigo, Vigo, Spain.

    Papers in Europe PMC
  9. 09
    Wang X6 papers · 2025

    Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China.

    Papers in Europe PMC
  10. 10
    Chang G5 papers · 2025

    Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.

    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 11 September 2026 · last trial check 28 July 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Alström 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.

("Alström syndrome" OR "Alstrom syndrome" OR "Alstrom's syndrome") OR ("ALMS1" OR "ALMS1 syndrome" OR "ALMS1-related")

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"

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: ok — strategies attempted: phrase; 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