{"id":21971,"date":"2025-02-11T05:14:59","date_gmt":"2025-02-11T06:14:59","guid":{"rendered":"http:\/\/medexperts.pro\/?p=21971"},"modified":"2025-02-11T11:29:11","modified_gmt":"2025-02-11T11:29:11","slug":"future-generations-need-cure-for-brain-disorder","status":"publish","type":"post","link":"https:\/\/medexperts.pro\/?p=21971","title":{"rendered":"‘Future generations need cure’ for brain disorder"},"content":{"rendered":"
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5 hours ago<\/div>\n
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\"Sharon<\/div>\n
Sharon Barbour<\/span><\/p>\n

Health Correspondent, North East and Cumbria<\/span><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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A woman who is at least the fourth generation of her family to suffer a “cruel” brain disorder, which leaves people trapped in their own bodies, is hoping a drug trial can give hope to future patients. <\/p>\n

Samantha Dennison, 58, has neuroferritinopathy, a rare disease that mainly affects a small number of families with roots in Cumbria.<\/p>\n

She is taking part in a trial to see if an existing drug, deferiprone, can remove the build-up of iron in the brain which causes the disease.<\/p>\n

The condition, discovered by medics in Newcastle in 2001, usually results in patients losing the ability to talk or move while remaining fully aware of the world around them.<\/p>\n<\/div>\n

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Scientists believe that worldwide there may only be about 100 people with neuroferritinopathy, but by the time they are diagnosed they may have children also carrying the gene. <\/p>\n

Those who discovered and named the condition said it had often been misdiagnosed as Parkinson’s or Huntington’s disease prior to 2001.<\/p>\n<\/div>\n

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One of the Newcastle scientists, Prof Patrick Chinnery, was so moved by the impact the condition had on patients and their families he became determined to find a treatment or, better still, a cure. <\/p>\n

He is leading the DefINe trial at the University of Cambridge<\/a> and described the condition as “cruel” because it left patients “trapped in”, unable to communicate with those around them.<\/p>\n

Whole families can be affected at once, including four sisters in Cumbria<\/a> whose story the BBC featured last year, ahead of the Cambridge trial.<\/p>\n<\/div>\n

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\"Samantha<\/div>\n<\/div>\n<\/figure>\n
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Mrs Dennison, from Bradford, was the first person to have her brain scanned for the study and recently returned to Cambridge for another MRI. <\/p>\n

She now finds walking and talking difficult and said the condition had left a trail of destruction to her family.<\/p>\n

“My brother has it, my father had it, his mother had it and so did her mother,” she said.<\/p>\n<\/div>\n

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\"Steph<\/div>\n<\/div>\n<\/figure>\n
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Samantha’s daughter, Steph, knew she was at risk of carrying the same gene and saw her grandfather deteriorate after he had been wrongly diagnosed with Parkinson’s.<\/p>\n

Witnessing her mother lose her ability to walk and talk, she said: “She used to love going out for long walks… she was bubbly and chatty.”<\/p>\n

Steph was terrified of finding out if the same thing was going to happen to her, to the extent that she feared having children of her own.<\/p>\n

“I don’t want them growing up and seeing me go through what my mum’s gone through,” she explained. <\/p>\n

But she said not knowing was so stressful that she eventually agreed to be tested.<\/p>\n

When the call came to say she did not have the gene, her and her partner burst into tears.<\/p>\n

They are now expecting a baby.<\/p>\n<\/div>\n

‘Potential cure’<\/h2>\n
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The Cambridge trial, approved by the Medicines and Healthcare Products Regulatory Agency, is being supported by \u00a3750,000 from the LifeArc Rare Diseases Translational Challenge. <\/p>\n

If successful, Prof Chinnery said doctors may be able to give deferiprone to people before they develop symptoms. <\/p>\n

For patients, that means “a potential cure” and could pave the way for treating other conditions linked to the build-up of iron in the brain.<\/p>\n

“If we can show in this condition that reducing iron stops the nerve cells being damaged, it is not a big jump to suggest a similar approach might be helpful in Parkinson’s disease or Alzheimer’s disease,” Prof Chinnery added.<\/p>\n

The trial is a double-blind study, so no one knows who is on the drug and who is taking the placebo, with researchers monitoring changes in iron levels in all participants.<\/p>\n<\/div>\n

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Cambridge University is still recruiting trial subjects and if deferiprone<\/a> – as an existing approved drug – works, it is hoped doctors will be able to prescribe it quickly.<\/p>\n

With her own speech now slowing down, Samantha Dennison said her big wish was for future generations.<\/p>\n

She said: “If they can have the disease stopped in its tracks, that would be absolutely amazing.”<\/p>\n<\/div>\n

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Related stories<\/span><\/div>\n<\/div>\n
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Related internet links<\/span><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

5 hours agoSharon BarbourHealth Correspondent, North East and Cumbria<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"close","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[33],"tags":[],"class_list":["post-21971","post","type-post","status-publish","format-standard","hentry","category-health"],"_links":{"self":[{"href":"https:\/\/medexperts.pro\/index.php?rest_route=\/wp\/v2\/posts\/21971","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medexperts.pro\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medexperts.pro\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medexperts.pro\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/medexperts.pro\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=21971"}],"version-history":[{"count":3,"href":"https:\/\/medexperts.pro\/index.php?rest_route=\/wp\/v2\/posts\/21971\/revisions"}],"predecessor-version":[{"id":21979,"href":"https:\/\/medexperts.pro\/index.php?rest_route=\/wp\/v2\/posts\/21971\/revisions\/21979"}],"wp:attachment":[{"href":"https:\/\/medexperts.pro\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=21971"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medexperts.pro\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=21971"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medexperts.pro\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=21971"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}