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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.
Features include always present findings: Mild intellectual disability, Seizure, Global developmental delay, and Rod-cone dystrophy and others. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Mild intellectual disability, Seizure, Global developmental delay |
BBS10 encodes Bardet-Biedl syndrome 10 (723 aa). Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Highest expression in Cells Cultured fibroblasts (20.7 TPM) and Nerve Tibial (19.6 TPM).
Bardet-Biedl syndrome 10 is associated with mutations in the BBS10 gene on chromosome 12.
The BBS10 protein participates in Formation of the BBSome pathway.
BBS10 is classified as a druggable target with score 0.0.
Genetic testing for BBS10 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 10 has been reported in the published literature.
Phenotype severity distribution: 6 always present features.
5 clinical trials registered, 3 recruiting. Interventions under study include other interventions and gene therapy. Pipeline includes 1 EARLY_PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT06239064](https://clinicaltrials.gov/study/NCT06239064) |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 10
2 |
Reduced kidney function (renal insufficiency), Renal cyst |
Hormones | 1 | Hypogonadism |
Eyes | 1 | Retinal dystrophy |
Early Genetic Identification of Obesity
— |
Rolfs Consulting und Verwaltungs-GmbH (RCV) |
ACTIVE_NOT_RECRUITING |
[NCT02435940](https://clinicaltrials.gov/study/NCT02435940) | Inherited Retinal Degenerative Disease Registry | — | Foundation Fighting Blindness | RECRUITING |
[NCT02329210](https://clinicaltrials.gov/study/NCT02329210) | Clinical Registry Investigating Bardet-Biedl Syndrome | — | Marshfield Clinic Research Foundation | RECRUITING |
[NCT07269665](https://clinicaltrials.gov/study/NCT07269665) | First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration | EARLY_PHASE1 | Axovia Therapeutics | UNKNOWN |
[NCT04461444](https://clinicaltrials.gov/study/NCT04461444) | COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study | NA | University Hospital, Strasbourg, France | RECRUITING |
17 publications have been identified in PubMed for Bardet-Biedl syndrome 10. Research spans Epidemiology / Natural History (41%), Basic Science / Preclinical (24%), and Case Report / Case Series (18%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 7 | 41% |
Laboratory research | 4 | 24% |
Patient case studies | 3 | 18% |
Testing and diagnosis research | 1 | 6% |
Research summaries | 1 | 6% |
Clinical study results | 1 | 6% |
Keifer E (2026). [PMID: 41947757](https://pubmed.ncbi.nlm.nih.gov/41947757/). *Clin Neuropsychol*. [Epidemiology / Natural History]
Seyedtaghia MR (2026). [PMID: 40252141](https://pubmed.ncbi.nlm.nih.gov/40252141/). *Biochem Genet*. [Basic Science / Preclinical]
Thiriveedi D (2026). [PMID: 41766136](https://pubmed.ncbi.nlm.nih.gov/41766136/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]
Mahler EA (2026). [PMID: 41238926](https://pubmed.ncbi.nlm.nih.gov/41238926/). *Ophthalmologie*. [Clinical Trial Publication]
Rustad CF (2025). [PMID: 40087798](https://pubmed.ncbi.nlm.nih.gov/40087798/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Barabino A (2025). [PMID: 40151639](https://pubmed.ncbi.nlm.nih.gov/40151639/). *iScience*. [Basic Science / Preclinical]
Vázquez-Folch SJ (2025). [PMID: 41552087](https://pubmed.ncbi.nlm.nih.gov/41552087/). *Cureus*. [Epidemiology / Natural History]
Demir Ş (2025). [PMID: 41219488](https://pubmed.ncbi.nlm.nih.gov/41219488/). *Eur J Pediatr*. [Epidemiology / Natural History]
Fatima S (2025). [PMID: 41418239](https://pubmed.ncbi.nlm.nih.gov/41418239/). *J Pak Med Assoc*. [Epidemiology / Natural History]
Liu X (2025). [PMID: 40914337](https://pubmed.ncbi.nlm.nih.gov/40914337/). *Exp Eye Res*. [Basic Science / Preclinical]
AI-curated news mentioning Bardet-Biedl syndrome 10
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.