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Pontocerebellar hypoplasia type 2A

MONDO:0010190

Also known as: TSEN54 pontocerebellar hypoplasia type 2, pontocerebellar hypoplasia type 2 caused by mutation in TSEN54, PCH2A, Pch2, Volendam neurodegenerative disease, microcephaly pontocerebellar hypoplasia dyskinesia, pontocerebellar hypoplasia with progressive cerebral atrophy, pontocerebellar hypoplasia, type 2A

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

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodegenerative disease (171) Central nervous system disorder (107) Neuromuscular disease (106) Spinal muscular atrophy (100) Motor neuron disorder (62) Spinal cord disorder (43) Human disease (14)
Trials to join now! 9 Not yet finished but already full! 1
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  • Smart sleeve study aims to improve movement for nerve disease patients

    Knowledge-focused ENROLLING_BY_INVITATION

    This study follows 1000 people with upper motor neuron disease who are about to receive the Cionic Neural Sleeve. The sleeve uses electrical stimulation to help muscles contract at the right time during movement. Researchers will track changes in health-related quality of life us…

    Phase: NA • Sponsor: Cionic, Inc. • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:04 UTC

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