ReviewFrontiers in pediatrics2018
Managing Bardet-Biedl Syndrome-Now and in the Future.
Review in Frontiers in pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
110 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.Frontiers in genetics · 2023Pooled it
- Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort.Obesity (Silver Spring, Md.) · 2026Trial
- Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.Orphanet journal of rare diseases · 2023Trial
- Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.The lancet. Diabetes & endocrinology · 2022Trial
- Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms.Clinical case reports · 2026Article
- Elucidating the genetic landscape of inherited retinal disorders in India.Human genomics · 2026Review
- Hyperphagia severity is underestimated in adults with Bardet-Biedl syndrome - a mixed-method cross-sectional study in the United Kingdom.Frontiers in endocrinology · 2026Article
- Unexpected Diagnosis of Fahr's Disease in a Patient with Severe Obesity and a Heterozygotic Variant in theGenes · 2025Article
- Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models.Scientific reports · 2025Article
- Engaging patient-led rare disease organizations to advance research - through the lens of Bardet-Biedl syndrome.Journal of cell science · 2025Review
- IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.Clinical obesity · 2025Article
- Clinical burden of hyperphagia, obesity and health outcomes in paediatric individuals with Bardet-Biedl syndrome: A CRIBBS data analysis.Pediatric obesity · 2025Article
- Psychometric evaluation of novel hyperphagia questionnaires in a real-world setting for patients with a rare MC4R pathway disease.Orphanet journal of rare diseases · 2025Article
- Rare Case of Laurence-Moon-Bardet-Biedl Syndrome With Pulmonary Hypertension: A Case Report.Clinical case reports · 2025Article
- Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- Ophthalmologic Manifestations in Bardet-Biedl Syndrome: Emerging Therapeutic Approaches.Medicina (Kaunas, Lithuania) · 2025Review
- Patient and caregiver experiences with a patient-support program for setmelanotide treatment of patients with Bardet-Biedl syndrome.Orphanet journal of rare diseases · 2025Article
- Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.BMJ open · 2025Observational
- Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.Orphanet journal of rare diseases · 2025Article
- Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.Biochemical genetics · 2025Article
50 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Bardet-Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is one of the most well-studied conditions in the family of diseases caused by defective cilia collectively known as ciliopathies. In this review, we provide an update on diagnostic developments, clinical features, and progress in the management of Bardet-Biedl syndrome. Advances in diagnostic technologies including exome and whole genome sequencing are expanding the spectrum of patients who are diagnosed with Bardet-Biedl syndrome and increasing the number of cases with diagnostic uncertainty. As a result of the diagnostic developments, a small number of patients with only one or two clinical features of Bardet-Biedl syndrome are being diagnosed. Our understanding of the syndrome-associated renal disease has evolved and is reviewed here. Novel interventions are developing at a rapid pace and are explored in this review including genetic therapeutics such as gene therapy, exon skipping therapy, nonsense suppression therapy, and gene editing. Other non-genetic therapies such as gene repurposing, targeted therapies, and non-pharmacological interventions are also discussed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.