Talk:Friedreich's ataxia

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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)[reply]

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To DO

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)[reply]

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)[reply]

- 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)[reply]

Thanks @RCHM: 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)[reply]

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)[reply]

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)[reply]

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,[1] and low availability of study participants.[2]

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)[reply]

References

  1. ^ Cite error: The named reference ndm was invoked but never defined (see the help page).
  2. ^ Michele GD, Filla A (October 2015). "Friedreich ataxia today—preparing for the final battle". Nature Reviews Neurology. 11 (4): 188–190. doi:10.1038/nrneurol.2015.33. PMID 25752951.

References

GA Review

GA toolbox
Reviewing
This review is transcluded from Talk:Friedreich's ataxia/GA1. The edit link for this section can be used to add comments to the review.

Reviewer: Ajpolino (talk · contribs) 07:33, 10 March 2021 (UTC)[reply]

Hi Akrasia25, I'll take on this review. Give me a few days to find some time. Apologies for the very long wait in the GAN queue. I'm looking forward to the read! Ajpolino (talk) 07:33, 10 March 2021 (UTC)[reply]

Alright, I've begun. I'll mostly review the criteria in the order they're listed below. Feel free to address things as I go or to wait for me to finish. Let me know if you have questions/concerns or wish to discuss anything further. Ajpolino (talk) 04:39, 18 March 2021 (UTC)[reply]
Sorry it took so long. Feel free to work on things in any order, and let me know if I can help or clarify anything. I've marked the review as "on-hold" so the folks who watch the GAN queue know I haven't forgotten you. The review can stay open as long as you'd like, but if you feel you'll need more than a month or two to address these comments (or if you feel I've given an unfair or otherwise idiotic review), then we typically mark the review as "failed" and you can re-nominate anytime. Just let me know. That said, I hope all is well on your end! Thanks for the interesting read. Best, Ajpolino (talk) 17:32, 21 March 2021 (UTC)[reply]
Thanks for doing the review Ajpolino. Really good comments that I will use for future articles too. I am on these changes now.--Akrasia25 (talk) 00:13, 22 March 2021 (UTC)[reply]


GA review (see here for what the criteria are, and here for what they are not)

1. It is well written.

a (prose, spelling, and grammar): b (MoS for lead, layout, word choice, fiction, and lists):
  • Signs & symptoms - prose isn't always superior to a bulleted list, but in this case I think the section would be greatly improved by turning your bulleted list into paragraphy-style text and adding some context. Are these signs & symptoms common or rare? Early presentations or late? Does "vision impairment" mean their vision blurs, or they go completely blind? Et al. Also a paragraph-style presentation would force some kind of order into the list, which currently appears to be in a somewhat random order. Done--Akrasia25 (talk) 16:45, 27 March 2021 (UTC)[reply]
  • Management - We typically avoid recommendations in Wikipedia's voice. Wikipedia is not a clinical guideline (WP:NOTGUIDE), it's an encyclopedia. Recommendations (e.g. "strengthening exercises should be incorporated...") should be rephrased to state a fact. Depending on the sources, something like "treatment typically includes X...", "X is effective for improving Y", or "The Australian Society of Ataxiacs recommends X" are all common here. For folks used to writing in a clinical style, this can be hard to get used to. If you'd like to discuss this further, I'm more than happy to do so. Done--Akrasia25 (talk) 16:45, 27 March 2021 (UTC)[reply]
  • Management - Similar with "speech therapy is recommended"... by whom? You cite a Cochrane review here so perhaps this could be explained in more precise terms, e.g. "Speech therapy improves X". Done--Akrasia25 (talk) 18:00, 23 March 2021 (UTC)[reply]
  • Epidemiology - A slight reorganization might help this section flow better. The first sentence and the fourth paragraph are both on the topic of populations susceptible to FDRA, so maybe they could be brought together? The three single-sentence paragraphs on prevalence estimates could then be brought together into one paragraph? Done--Akrasia25 (talk) 00:42, 27 March 2021 (UTC)[reply]
  • Research - I like that this article has so much information on the pharmaceutical pipeline for this drug. That's a topic that's often poorly covered in our medicine article. That said, I think the detail could be trimmed slightly to make the section more readable. Also/alternatively the organization of the section could be improved. Now it's a bit of an odd mix. Some of the section headings are the mechanism of action of the product (e.g. "Modulation of transcriptional factor Nrf2"), others are the nature of the product ("Flavonoids" and "Gene therapy"). Perhaps you should decide if you'd like to organize this section by mechanism or by type of product. Done--Akrasia25 (talk) 18:04, 27 March 2021 (UTC)[reply]
Minor stuff
  • Genetics - I assume "Intron" is supposed to be lowercase? Would've changed it myself, but not sure if there's a capitalization convention in genetics I'm not aware of. Done--Akrasia25 (talk) 18:00, 23 March 2021 (UTC)[reply]
  • Genetics - The last paragraph can be appended to the one above it. They're on the same basic topic. Done--Akrasia25 (talk) 18:00, 23 March 2021 (UTC)[reply]

2. It is factually accurate and verifiable.

a (reference section): b (citations to reliable sources): c (OR): d (copyvio and plagiarism):
  • There are a few places where I can't tell what references support some content, particularly the bulleted lists in Signs & symptoms and Diagnosis. Also the first sentence in Epidemiology. Done--Akrasia25 (talk) 16:45, 27 March 2021 (UTC)[reply]
  • Could you fill out some more information for the URL-only references? It helps protect against WP:LINKROT. The ones I see are titled "RTA 408 capsules in patients...", "Part 2 of the Phase II MOXIe...", "Safety and efficacy of EPI-743...", "Bioelectron pipeline", "Epicatechin to Treat...", "STATegics, Inc. Announces...", "FARA - Rare Disease Day 2017 -...", "BioMarin Highlights...", and "Jupiter Orphan..." Done--Akrasia25 (talk) 18:00, 23 March 2021 (UTC)[reply]
  • In general, we strive to use recent, authoritative, secondary sources in medicine articles, as these are the most reliable indicators of the up-to-date mainstream thinking on topics (the community's thinking on what constitutes reliable sources in medicine is summarized at WP:MEDRS). Some of the medical information here is cited to reviews that are 10+ years old. That's certainly not the end of the world, but anywhere that you can replace an older reference with a newer one (where the newer one contains the same information, of course), you'll increase the reader's faith that our article is reliable and up-to-date. Done--Akrasia25 (talk) 16:45, 27 March 2021 (UTC)[reply]
  • Particular source issues to check:
  • About 20% of people have trouble metabolizing carbohydrates and 10% develop diabetes mellitus is referenced to this 1962 review. Is there more recent coverage of the topic? Done--Akrasia25 (talk) 18:16, 23 March 2021 (UTC)[reply]
  • Much of the first paragraph of the Pathophysiology section references a 20-year old review. Anything more recent that can take its place? Done--Akrasia25 (talk) 18:16, 23 March 2021 (UTC)[reply]

3. It is broad in its coverage.

a (major aspects): b (focused):

4. It follows the neutral point of view policy.

Fair representation without bias:

5. It is stable.

No edit wars, etc.:

6. It is illustrated by images and other media, where possible and appropriate.

a (images are tagged and non-free content have fair use rationales): b (appropriate use with suitable captions):
Pass. Not required for this review, but consider adding alternative text to the images. It allows visually impaired folks using screen readers to get a sense of what the image is conveying.  Done--Akrasia25 (talk) 17:20, 27 March 2021 (UTC)[reply]

Overall:

Pass/Fail:

Did you know nomination

The following is an archived discussion of the DYK nomination of the article below. Please do not modify this page. Subsequent comments should be made on the appropriate discussion page (such as this nomination's talk page, the article's talk page or Wikipedia talk:Did you know), unless there is consensus to re-open the discussion at this page. No further edits should be made to this page.

The result was: promoted by Cwmhiraeth (talk) 06:27, 16 April 2021 (UTC)[reply]

(
)
  • ... that Friedreich's ataxia is the most common inherited ataxia? Delatycki, Martin B.; Bidichandani, Sanjay I. (2019). "Friedreich ataxia- pathogenesis and implications for therapies". Neurobiology of Disease. 132: 104606. doi:10.1016/j.nbd.2019.104606. PMID 31494282. S2CID 201839487.
    • ALT1:... that symptoms of Friedreich's ataxia typically start between the ages of 5 and 15? Cook, A.; Giunti, P. (2017). "Friedreich's ataxia: Clinical features, pathogenesis and management". British Medical Bulletin. 124 (1): 19–30. doi:10.1093/bmb/ldx034. PMC 5862303. PMID 29053830.
    • ALT2:... that Friedreich's ataxia is a devastating monogenic, autosomal recessive progressive disease?
    • ALT3:... that symptoms of Friedreich's ataxia start most often around puberty, leads to severe disability by early adulthood, with substantial functional loss, wheelchair dependence and loss of quality of life?
    • ALT4:... that Kristen Stewart played a young woman with Friedreich's ataxia in the 2007 movie, The Cake Eaters? Holden S (13 March 2009). "The Cake Eaters". The New York Times. Retrieved 8 July 2009.
    • ALT5:... that Kristen Stewart played a young woman with Friedreich's ataxia, a disease which leads to severe disability with substantial functional loss and wheelchair dependence?

Improved to Good Article status by Akrasia25 (talk). Self-nominated at 17:38, 28 March 2021 (UTC).[reply]

  • @Akrasia25: New (via GA promotion) and long enough, within policy, I see only one previous DYK credit so QPQ not required, Earwig finds no copyvios. The hook facts are a bit technical; getting Kristin Stewart into one of the hooks would be interesting. Antony–22 (talk⁄contribs) 06:06, 6 April 2021 (UTC)[reply]
Thanks for the extra hook. ALT1 isn't quite right, as the source says "mean age of onset in classical FRDA is between 10 and 16 years". For ALT2, "devastating" and "monogenic" aren't explicitly in the article, and the former is usually a subjective term. The rest check out factually. Antony–22 (talk⁄contribs) 01:16, 16 April 2021 (UTC)[reply]

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)[reply]

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." [1][2]--Akrasia25 (talk) 14:05, 20 April 2021 (UTC)[reply]

References

  1. ^ Miller JL, Rai M, Frigon NL, Pandolfo M, Punnonen J, Spencer JR (September 2017). "Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo". Neuropharmacology. 123: 34–45. doi:10.1016/j.neuropharm.2017.05.011. PMID 28504123. S2CID 402724.
  2. ^ "STATegics, Inc. Announces a New Grant from Friedreich's Ataxia Research Alliance" (PDF).

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)[reply]

Are the other diseases "anticipation"?--Akrasia25 (talk) 14:59, 8 November 2021 (UTC)[reply]
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