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ORPHA:110

Bardet-Biedl syndrome

medium confidenceDisorder

Also known as: BBS

Publications

7,015

93.8th percentile

Trials

8

Interventional, condition-specific

Researchers

1,094

Distinct authors in sample

Gene link

SCLT1

Limited

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic multisystem disorder characterized by the variable association of retinal , obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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

    Limited — SCLT1

  2. LiteraturePresent

    7,015 matched papers (4,033 in last 10 years) Source

  3. Phenotype characterisedPresent

    487 HPO annotations (e.g. Spicular pigmentation of the retina; Strabismus; Cataract) Source

  4. Animal modelPresent

    25 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 1 EMA designations (1 FDA orphan-indication approval) — e.g. setmelanotide Source

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (3 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?

Possibly — only limited evidence so far for SCLT1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

487

Associated phenotypes · MONDO:0015229

  • Spicular pigmentation of the retina
  • Strabismus
  • Cataract
  • Attenuation of retinal blood vessels
  • Intellectual disability

Showing 5 of 487 — open Monarch for the full list.

Animal models (Monarch / Alliance)

25

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 · 1 with FDA orphan-indication approval

  • FDA setmelanotideBardet-Biedl Syndrome · 2019-09-19 · Not FDA Approved for Orphan Indication
  • EMA setmelanotide (Imcivree)Treatment of Bardet-Biedl syndrome · 21/08/2019 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0015229

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,015

7,015 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,015 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).

4,033 in the last 10 years · medium confidence · 93.8th percentile (publications denominator)

Phrase hits: 6,209 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,094

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
    Pomeroy J6 papers · 2026

    Marshfield Clinic Research Institute, Marshfield, WI, USA.

    Papers in Europe PMC
  2. 02
    Cetiner M5 papers · 2026

    Department of Paediatrics II, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

    Papers in Europe PMC
  3. 03
    Dollfus H5 papers · 2026

    Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace, INSERM-Université de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  4. 04
    Haqq AM5 papers · 2026

    Division of Pediatric Endocrinology, University of Alberta, Edmonton, Alberta, Canada.

    Papers in Europe PMC
  5. 05
    Dauleh H4 papers · 2026

    Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.

    Papers in Europe PMC
  6. 06
    Hussain K4 papers · 2026

    Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.

    Papers in Europe PMC
  7. 07
    Kumar S4 papers · 2026

    Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA.

    Papers in Europe PMC
  8. 08
    Richards J4 papers · 2026

    Department of Internal Medicine, University of Oklahoma at Tulsa, Tulsa, Oklahoma, USA.

    Papers in Europe PMC
  9. 09
    Sigurdardottir S4 papers · 2026

    Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.

    Papers in Europe PMC
  10. 10
    von der Lippe C4 papers · 2026

    Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

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

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

medium confidence · 91.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

10 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Bardet-Biedl 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.

("Bardet-Biedl syndrome") OR ("SCLT1" OR "SCLT1 syndrome" OR "SCLT1-related")

Run this search on Europe PMC

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

"Bardet-Biedl 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: 8 interventional · 10 observational · 1 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: BBS

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 2026-07-26T12:27:32.285Z