Barth syndrome causes problems with the heart, muscles and immune system. The diagnosis sounds terrifying, but for Dryden, who lives in Colorado, it actually brought relief, as her newborn son lay in a hospital bed in heart failure.<\/p>\n
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\u201cWhen we got his diagnosis, I think that was the first time I felt hope because his doctor said, \u2018You know, I hate to have to give you a diagnosis, but there\u2019s a treatment,’\u201d Dryden recalled.<\/p>\n
Elamipretide is an investigational drug. When Gilbert was diagnosed, the drug maker was in the process of seeking approval from the FDA. Gilbert receives Elamipretide under the expanded access program, also called compassionate use. <\/p>\n
\u201cWe attribute Elamipretide to that being the reason he is home with us,\u201d his mom said.<\/p>\n
The future of the drug is in jeopardy, though. The FDA recently declined to approve it, despite what Barth syndrome researchers felt were positive signs during the consideration process. <\/p>\n
\u201cThe Advisory Committee voted 10 to 6 in favor that Elamipretide is efficacious for the treatment of Barth syndrome,\u201d explained Lindsay Marjoram, the director of research for the Barth Syndrome Foundation.<\/p>\n
Dr. Todd Cade, professor and division chief of physical therapy at Duke University, has been researching Barth syndrome for nearly 20 years. He and Majoram both say they believe that Elamipretide has shown benefits. <\/p>\n
\u201cExpanded access has been used on a lot of infants born with heart failure, and it had really amazing results,\u201d Cade noted.<\/p>\n
\u201cThe drug has an excellent safety profile,\u201d Marjoram added.<\/p>\n
Both say it\u2019s challenging to study drugs for ultra-rare diseases. <\/p>\n
\u201cBecause this is the very first trial in Barth syndrome; they [the drug maker] really didn\u2019t know the timeframe this drug was going to work; they didn\u2019t really know the perfect outcomes to use,\u201d Cade noted. <\/p>\n
He explained that data from the initial trial period did not show the drug making a statistically significant difference in patients\u2019 physical function, as it was measured, but patients who remained on the drug after that initial period did show significant improvements.<\/p>\n
Marjoram added that the very limited numbers of patients participating in drug trials also present a challenge. <\/p>\n
\u201cDrug trials for things like chronic heart disease, lung disease, diabetes, those have the benefit of having thousands and thousands of patients in the trial, and so you can do really elegant statistics,\u201d she said. \u201cWe don\u2019t have the luxury of that. We don\u2019t have a current standard of care, and we don\u2019t have a lot of patients.\u201d<\/p>\n
Barth syndrome isn\u2019t the only rare disease facing these challenges. <\/p>\n
\u201cThere are other conditions like MPS and Sanfilippo syndrome that are also in the same boat,\u201d Marjoram stated.<\/p>\n
Sanfilippo syndrome is another ultra-rare genetic condition, sometimes known as childhood dementia. The neurodegenerative condition causes children to regress until most die in their mid-teens. <\/p>\n
\u201cThey lose speech, mobility, ability to feed themselves,\u201d noted Ashley Haywood, the mother of a child with Sanfilippo syndrome.<\/p>\n
Haywood and her daughter, Sadie, live in Albemarle, North Carolina. Sadie was diagnosed with Sanfilippo syndrome as a baby. A few years ago, she loved to sing and talk. Now, at age nine, she\u2019s lost many of her abilities. <\/p>\n
\u201cShe has lost most of her words. She would probably be considered nonverbal,\u201d Haywood noted.<\/p>\n
She added that an investigational treatment in clinical trials, known as UX111,\u00a0gave hope to many families dealing with Sanfilippo syndrome. <\/p>\n
\u201cThey submitted their letters to the FDA; all of the data looked really good,\u201d Haywood said.<\/p>\n
The FDA declined to approve the drug. The company that makes UX111 has said it plans to address the issues the FDA noted and resubmit an application. The maker of Elamipretide has already resubmitted an application to the FDA, and according to the drug maker, federal officials are considering it and hope to provide an answer by the end of September. <\/p>\n
In both cases, advocates say time is of the essence. When it comes to Elamipretide: \u201cWe\u2019re now entering month 19, and the sponsor is on the brink of bankruptcy,\u201d Marjoram cautioned.<\/p>\n
\u201cIn Sanfilippo, six months \u2013\u00a0that\u2019s life or death,\u201d added Haywood. \u201cThat\u2019s the difference between a kid communicating in full sentences to being nonverbal, so our argument to the FDA is \u2018our kids don\u2019t have time; we can\u2019t wait.’\u201d<\/p>\n
More than 45,000 people signed a petition urging the FDA to act quickly when it comes to drugs for rare diseases, and to take into account the limited patient population and resource constraints clinical trials face when considering these treatments. \u00a0<\/p>\n
Although they\u2019re dealing with different diseases, families like the Haywoods and Drydens are working together to get their message across, recording videos and sharing stories online. Gilbert\u2019s mom started this webpage<\/a> to share her son\u2019s story, while Sadie\u2019s mom chronicles her journey for hundreds of thousands of followers on Facebook<\/a>. \u00a0<\/p>\n The two families recently made a video together about applications for Elamipretide and UX111 being declined. <\/p>\n \u201cIt\u2019s our last chance,\u201d Haywood said. \u201cWe don\u2019t have anything else, so we\u2019re going to push, and we\u2019re going to press the buttons if we need to, \u00a0and we\u2019re going to do whatever we can for our kids because it\u2019s our only option.\u201d<\/p>\n Last summer, the FDA announced the creation of a Rare Disease Innovation Hub to focus on these rare and ultra-rare diseases.\u00a0CBS 17 reached out to the FDA about Elamipretide, UX111 and the approval process for drugs for these ultra-rare diseases. We received\u00a0the following statement: \u201cThe FDA continues to be a strong advocate of development of drugs for ultra-rare diseases. However, the FDA is unable to comment on the status of ongoing regulatory files.\u201d<\/p>\n According to Marjoram, the FDA received 75 letters about Barth syndrome and Elamipretide, and one parent of a child with Barth Syndrome was recently granted a meeting with the FDA commissioner and high-level FDA staff. Several other families dealing with Barth syndrome, along with the executive director of the Barth Syndrome Foundation, and Marjoram were included in the meeting, during which they were able to share their experiences. <\/p>\n Marjoram said they also pointed out the experiences of families dealing with other rare diseases, including Sanfilippo syndrome.<\/p>\n Madison Dryden, fears what will happen if Gilbert loses access to the drug he\u2019s taken for most of his life. <\/p>\n \u201cJust the thought of this drug going away is absolutely terrifying,\u201d she said. \u201cHonestly, that\u2019s what I think about all day every day is how much time do we have with our baby because when we had the certainty of Elamipretide, when we\u2019ve had it, it\u2019s like maybe we have a chance of seeing him grow up, and now we\u2019re pretty much in fear that we don\u2019t have that chance anymore because of the process.\u201d<\/p>\n \t\t\t\tSuggest a Correction<\/p>\n \t\t\t\t\t\t\t\t\tClose Modal<\/p>\n \t\t\t\t\t\tSuggest a Correction<\/p>\n","protected":false},"excerpt":{"rendered":"RALEIGH, N.C. (WNCN) \u2013 Parents of children with ultra-rare diseases are encouraging the Food and Drug Administration to…\n","protected":false},"author":2,"featured_media":122956,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[97,243],"class_list":{"0":"post-122955","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-medication","8":"tag-health","9":"tag-medication"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/122955","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=122955"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/122955\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/122956"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=122955"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=122955"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=122955"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}