NCT06615011

Brief Summary

Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple organs. and presents with a variety of characteristics. It is caused by a dysfunction in the cilia. We present a case of bradet-biedl syndrome presenting with intellectual disabilities, post-axial polydactyly, gingival hyperplasia, and a significant family history of scleroderma. The diagnosis was determined based on clinical physical examination findings. The patient is undergoing treatment with Thyroxine. Although medical staff are incapable of treatment, systems support adjust the overall well-being and quality of life for individuals with Bardet-Biedl syndrome and their families.

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Oct 2024

Shorter than P25 for all trials

Status
not yet recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 24, 2024

Completed
2 days until next milestone

First Posted

Study publicly available on registry

September 26, 2024

Completed
16 days until next milestone

Study Start

First participant enrolled

October 12, 2024

Completed
11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 12, 2025

Completed
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

October 12, 2025

Completed
Last Updated

September 27, 2024

Status Verified

September 1, 2024

Enrollment Period

11 months

First QC Date

September 24, 2024

Last Update Submit

September 25, 2024

Conditions

Bardet Biedl Syndrome (BBS)

Keywords

Central obesityPostaxial Polydactyly

Outcome Measures

Primary Outcomes (1)

  • bardet beidle syndrome

    2025

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

any hospital

You may qualify if:

  • any person

You may not qualify if:

  • any person

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (6)

  • Ankleshwaria C, Prajapati B, Parmar S, Rathod V, Patel H, Dhorajiya D, Chavda N, Parmar K, Pathan F, Chauhan M. Bardet-Biedl Syndrome Presenting in Adulthood. Indian J Nephrol. 2022 Nov-Dec;32(6):633-636. doi: 10.4103/ijn.ijn_320_21. Epub 2022 Oct 2.

    PMID: 36704599BACKGROUND

  • Oliaei F, Narimani H. Bardet-Biedl 9 Syndrome, A Rare Mutation. Iran J Kidney Dis. 2020 Mar;14(2):157-159.

    PMID: 32165602BACKGROUND

  • Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE. Bardet-Biedl syndrome: a case series. J Med Case Rep. 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6.

    PMID: 35484558BACKGROUND

  • Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31.

    PMID: 39085583BACKGROUND

  • Tsegaw A, Teshome T. Bardet-Biedl Syndrome in an Ethiopian. Int Med Case Rep J. 2021 Mar 19;14:177-181. doi: 10.2147/IMCRJ.S299421. eCollection 2021.

    PMID: 33776488BACKGROUND

  • Shrinkhal, Singh A, Agrawal A, Mittal SK, Udenia H, Bandu GH. A rare case of Bardet-Biedl syndrome. Taiwan J Ophthalmol. 2019 Oct 17;10(2):138-140. doi: 10.4103/tjo.tjo_62_19. eCollection 2020 Apr-Jun.

    PMID: 32874845BACKGROUND

MeSH Terms

Conditions

Bardet-Biedl SyndromeObesity, AbdominalPolydactyly, Postaxial

Condition Hierarchy (Ancestors)

Hypothalamic DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesRetinitis PigmentosaEye Diseases, HereditaryEye DiseasesCiliopathiesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornObesityOverweightOvernutritionNutrition DisordersNutritional and Metabolic DiseasesBody WeightSigns and SymptomsPathological Conditions, Signs and Symptoms

Central Study Contacts

shaghaf mwaffak alhallak, med student

CONTACT

0988249648shaghafalhallak@gmail.com

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
OTHER
Target Duration
1 Year
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
med student

Study Record Dates

First Submitted

September 24, 2024

First Posted

September 26, 2024

Study Start

October 12, 2024

Primary Completion

September 12, 2025

Study Completion

October 12, 2025

Last Updated

September 27, 2024

Record last verified: 2024-09

Data Sharing

IPD Sharing
Will not share