{"id":20238,"date":"2024-06-27T16:33:17","date_gmt":"2024-06-27T14:33:17","guid":{"rendered":"https:\/\/ela-international.preprod.melisagency.fr\/?post_type=news_research&p=20238"},"modified":"2024-07-09T15:09:30","modified_gmt":"2024-07-09T13:09:30","slug":"1st-clinical-trial-for-cach-syndrome","status":"publish","type":"news_research","link":"https:\/\/elainternational.eu\/en\/actualites_recherche\/1st-clinical-trial-for-cach-syndrome\/","title":{"rendered":"1st Clinical trial for CACH syndrome"},"content":{"rendered":"\n\n
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1st<\/sup> Clinical trial for CACH syndrome<\/strong><\/h3>\n <\/div>\n
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Marjo van der Knaap – <\/em>2021<\/p>\n <\/div>\n <\/div>\n<\/section>\n\n\n\n

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Description of the project<\/strong><\/h5>\n <\/div>\n
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The disease <\/strong><\/p>\n

CACH (Childhood Ataxia with Central Nervous System Hypomyelination) <\/em>is a rare genetic disease of the hypomyelinating leukodystrophy family, also known as leukoencephalopathy with vanishing white matter (VWM). It is characterised by a progressive degradation of the white matter in the brain, leading to various cognitive disorders and muscle stiffness. These disorders may go unnoticed at first, making early diagnosis difficult. When suspicion is high, the diagnosis can be confirmed by genetic testing. The disease often manifests itself in early childhood, but some patients do not show symptoms until adulthood. There is currently no treatment, only symptomatic treatment is offered for the treatment.<\/p>\n

Hope for families <\/strong><\/p>\n

Research teams have been working for years to speed up diagnosis, understand the mechanisms of the disease, find new markers, move towards new therapies, and improve patient management.
\nMarjo van der Knaap<\/em>\u2019s team at the VUmc (Center for White Matter Disorders of the VU University Medical Center in Amsterdam, the Netherlands) has been interested in leukodystrophies, but also specifically in CACH syndrome for several years. The gene associated with this disease was identified by the team in 2001 and for the past 20 years, with the support of ELA, researchers have focused on understanding the mechanisms of the disease. As a result of this research, a promising molecule has been identified that could improve the condition of these patients. This molecule, guanabenz, has been marketed for many years in the United States and Europe for the treatment of hypertension in adults. It acts on the cellular stress response (cell defence mechanism) which is involved in CACH syndrome.
\nThe team of researchers led by Marjo van der Knaap<\/em> (ms.vanderknaap@amsterdamumc.nl<\/em><\/a>) has set up a clinical study with the aim of testing the effectiveness of the molecule<\/strong> in the disease as quickly as possible<\/strong>.<\/p>\n

Who can take part in the trial? <\/strong><\/p>\n

A patient is eligible for participation in the trial if he\/she meets the following criteria:<\/p>\n