Talk:Friedreich's ataxia

Separating "Treatments" section into "Treatments" and "Research"
There was a statement in the article that said "first human trials began in 2012", but it was completely unrelated to anything around it. I added some context to what drug was being referenced. That done, the drug it referenced is still in the research phase. I think the "treatment" section should have some of the pharmaceuticals mentioned pulled into a research section. Though I'm new here, so I still need to read through the medical article guidelines. TimeAlwaysSlides (talk) 06:29, 1 June 2014 (UTC)

External links modified
Hello fellow Wikipedians,

I have just modified 4 external links on Friedreich's ataxia. Please take a moment to review my edit. If you have any questions, or need the bot to ignore the links, or the page altogether, please visit this simple FaQ for additional information. I made the following changes:
 * Added archive https://web.archive.org/web/20110726071056/http://www.fortnet.org/fapg/PTarticleFA.htm to http://www.fortnet.org/fapg/PTarticleFA.htm
 * Added archive https://web.archive.org/web/20110927111223/http://www.mdausa.org/publications/fa-fried-qa.html to http://www.mdausa.org/publications/fa-fried-qa.html
 * Added archive https://web.archive.org/web/20120317063800/http://www.curefa.org/_pdf/PressRelease03-15-12.pdf to http://www.curefa.org/_pdf/PressRelease03-15-12.pdf
 * Added archive https://web.archive.org/web/20060224152629/http://www.mdausa.org/experts/responses.cfm?id=92 to http://www.mdausa.org/experts/responses.cfm?id=92
 * Added tag to http://www.lacaf.org/index.php?option=com_frontpage&Itemid=1&lang=english

When you have finished reviewing my changes, you may follow the instructions on the template below to fix any issues with the URLs.

Cheers.— InternetArchiveBot  (Report bug) 06:54, 30 December 2017 (UTC)

New sections
I would like to reorder the sections to bring more order. I like the Cystic fibrosis organization. The CF page was a Featured Article and flows well. Specifically, I would first move the existing content to the following sections. Also, because Management is a better wording than Treatment. I am leaving these references here for my benefit to refer to. WP:SECTIONS MOS:LAYOUT WP:MEDMOS

Management Procedures Research Small molecules Large molecules Gene therapy --Akrasia25 (talk) 20:37, 14 December 2018 (UTC)

Pathology section has too much jargon
Needs a rewrite or removal

Clinical research section
I tried to add an image of the clinical pipeline that I have complete copyrights to but it was removed. I don't know another way to show all the many treatments that have been tried, are being tried and have failed trials. I would like to remove the section called Treatment strategies proven to be inefficient completely as this is nowhere near an exhaustive list and does not add to knowledge of the disease. Thoughts? --Akrasia25 (talk) 14:13, 1 January 2019 (UTC)

- I think the most recent treatment attempt/research path on pharmaceuticals bears inclusion for the sake of being relevant to the current situation of development of the disease, especially if citable to make it notable. I agree, however that it is not appropriate to have something like an exhaustive list of all past strategies/drugs. Anything further back than the newest/current/relevant work should be pruned. RCHM (talk) 17:31, 1 April 2019 (UTC)


 * Thanks I have added all top drugs on the FARA pipeline and am adding secondary references. I removed the ones that have been dropped.--Akrasia25 (talk) 21:18, 8 April 2019 (UTC)

Revision of edits
X-rays are a valid diagnostic and used to test for Scoliosis. I am adding reference as I continue to clean up the article.--Akrasia25 (talk) 15:21, 23 February 2019 (UTC)

Prognosis
“Where decline to complete disability was once thought to be inevitable, recent research proves that a period of inpatient rehabilitation may reverse or halt the downward decline in function seen in most patients[2] and that, with continued exercise, benefits can be maintained indefinitely.[16]

The estimated life expectancy has been found to be about 40–50 years”

1. I read the article cited for the above rehabilitation conclusion:

“Rehabilitation therapy is a cornerstone of present-day ataxia therapy and there is evidence that physical therapy improves symptoms of cerebellar degeneration in the short-term and that, with continued exercise, benefits can be maintained long-term. .....

.....Due to disease progression, subjects experienced a decline of motor function and an increase of ataxia symptoms after 1 year; however, the results implied long-term rehabilitation therapy impedes the natural disease progression, allowing patients to retain motor function and coordination longer than they otherwise would have [72].”

That language does not support the statement that “recent research proves that a period of inpatient rehabilitation may reverse or halt the downward decline in function seen in most patients[2] and that, with continued exercise, benefits can be maintained indefinitely.[16]”

2. Also took a look at the cited article for the statement that “The estimated life expectancy has been found to be about 40–50 years.” That article, below, uses an older cohort and its title makes clear it presents “a European Perspective.”  The estimated life expectancy of FA patients worldwide is not 40-50 years.

Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009;5:222-34--Akrasia25 (talk) 10:06, 11 March 2019 (UTC)

Outdated statement in Prognosis section
I removed the following from the article.

Studies investigating FRDA have often provided inconclusive and contradicting results arising from inhomogeneity in trial populations, non-validated measures used in older studies, and low availability of study participants.

Have just read through a good bit of the first article (Feb 2016) the statement does injustice to the thrust of the article and is outdated, as indicated in the statement immediately following the quoted segment:

“Future studies can be expected to evaluate treatments in homogenous populations. The use and development of model clinical instruments and technologies such as computerized gait monitoring, speech evaluation, and imaging along with molecular indices adds precision and new avenues for capturing ataxic symptoms and physiologic functions. Thereby, resulting in more precise and extended measurement of disease progression and therapeutic effects.”

and by the article’s earlier statement about the FARS:

“The FARS, developed specifically for evaluating FRDA patients and consists four main sections: functional staging, activities of daily living subscale (ADLs), neurological exam, and quantitative timed activities. The functional staging section of the FARS examines patient mobility, and the ADLs section assesses ability to complete daily tasks such as speaking, dressing, and walking. The neurological exam targets specific areas impacted by FRDA including bulbar function, upper limb coordination, lower limb coordination, peripheral nerve, upright stability and gait functions. The quantitative timed activities include the 25-foot walk, 9-hole peg test, and PATA speech rate. Studies have demonstrated the validity of the FARS in the evaluation of FRDA patients [10,11].”

and by the article’s conclusions:

“In older studies, non-validated measures were used. Future studies can be expected to evaluate treatments in homogenous populations. The use and development of model clinical instruments and technologies such as computerized gait monitoring, speech evaluation, and imaging along with molecular indices adds precision and new avenues for capturing ataxic symptoms and physiologic functions. Thereby, resulting in more precise and extended measurement of disease progression and therapeutic effects.”

In the more than three years since this article was published, outcome measures and clinical trials have made real strides along the pathway predicted by the above.

I could not access the second article referenced (Filla, etc.) but note it was published more than four years ago and would be even more outdated than the first. Also, the Filla trials were even longer ago, were of EPO in Italy and, if they suffered from “low availability of study participants” that seems to be only one example and not the rule.

Separately, I see a copyright violation and will also remove the section which is copied verbatim from the article.

"development of model clinical instruments and technologies such as computerized gait monitoring, speech evaluation, and imaging along with molecular indices adds precision and new avenues for capturing ataxic symptoms and physiologic functions. Thereby, resulting in more precise and extended measurement of disease progression and therapeutic effects.”--Akrasia25 (talk) 12:12, 3 April 2019 (UTC)

Erythropoietin?
Why is a hormone that promotes the production of erythrocytes mentioned as a potential therapeutic here? There is no obvious relevance. Error? IAmNitpicking (talk) 11:08, 20 April 2021 (UTC)
 * It is not Epo but epo mimetics a very active area of research. "EPO mimetics are orally available peptide imitations of erythropoietin. They are small molecules erythropoietin receptor agonists designed to activate the tissue-protective erythropoietin receptor."  --Akrasia25 (talk) 14:05, 20 April 2021 (UTC)

Non-Mendelian inheritance: anticipation
I don't know how to edit it: In the part of "Non-Mendelian inheritance: anticipation" appears Friedreich's ataxia and Myotonic Dystrophy type II. Both, although are a genetic repeat disorders, are not characterised by anticipation. — Preceding unsigned comment added by Laura prokop (talk • contribs) 20:03, 6 November 2021 (UTC)
 * Are the other diseases "anticipation"?--Akrasia25 (talk) 14:59, 8 November 2021 (UTC)