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Joubert syndrome 21

MONDO:0014288

Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.

Also known as: CSPP1 Joubert syndrome, JBTS21, Joubert syndrome 21, Joubert syndrome caused by mutation in CSPP1, Joubert syndrome type 21

71 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neurodegenerative disease (155) Respiratory system disorder (127) Brain disorder (110) Central nervous system disorder (97) Movement disorder (89) Bone disorder (47)
Trials to join now! 34 Not yet recruiting 11 Not yet finished but already full! 9 Completed 16 Terminated 1
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  • Scientists gather leftover surgical tissue to unlock secrets of bone disease

    Knowledge-focused Terminated

    This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

    Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:52 UTC

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