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Rescooped by Filippo Buccella from Duchenne Nation Research News
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Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in DMD

Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in DMD | Duchenne scoop page | Scoop.it
Int J Mol Sci. 2016 Aug 13;17(8). pii: E1334.

In conclusion, miR-206 has potential as a "liquid biopsy" for carrier detection and genetic counseling in DMD.

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Rescooped by Filippo Buccella from Duchenne Nation Research News
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Summit Announces Publication on Biomarkers to Quantify Utrophin Protein and Regeneration of Muscle Fibres in DMD

Summit Announces Publication on Biomarkers to Quantify Utrophin Protein and Regeneration of Muscle Fibres in DMD | Duchenne scoop page | Scoop.it
EconoTimes is a fast growing non-partisan source of news and intelligence on global economy and financial markets, providing timely, relevant, and critical insights for market professionals and those who want to make informed investment decisions.

Via Deb Robins
Filippo Buccella's insight:
Relevant measures ahead of March 18 Summit Webinar.
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Deb Robins's curator insight, March 16, 8:16 AM
Relevant measures ahead of March 18 Summit Webinar.
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The Breakthrough of 2015 - CRISPR

The Breakthrough of 2015 - CRISPR | Duchenne scoop page | Scoop.it
CRISPR is a gene editing tool that is revolutionizing medical care with prospective cure for genetic diseases like cancer, diabetes, DMD, eye diseases, obesity.
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Duchenne Muscular Dystrophy Drugs Face Tough Path to Approval | Life Sciences Connect

Duchenne Muscular Dystrophy Drugs Face Tough Path to Approval | Life Sciences Connect | Duchenne scoop page | Scoop.it
Highly anticipated as new disease-modifying treatments for Duchenne muscular dystrophy (DMD), therapeutics by BioMarin Pharmaceutical (Kyndrisa; drisapersen) and Sarepta Therapeutics (eteplirsen; AVAVI-4658) both recently received negative FDA...
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Rescooped by Filippo Buccella from Duchenne Nation Research News
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The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype.

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype. | Duchenne scoop page | Scoop.it

Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotype is not respected, even if carrying a typical Duchenne mutation (exon 44 deletion) a Becker-like phenotype was observed. Here we report that in this patient, partial restoration of an in-frame transcript occurs by natural skipping of exon 45 and that this is due to the lack of Celf2a, a splicing factor that interacts with exon 45 in the dystrophin pre-mRNA. Several experiments are presented that demonstrate the central role of Celf2a in controlling exon 45 splicing; our data point to this factor as a potential target for the improvement of those DMD therapeutic treatments, which requires exon 45 skipping.


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Deb Robins's curator insight, January 24, 4:41 PM

A tweak for exon 45 skipping.

Rescooped by Filippo Buccella from Duchenne Muscular Dystrophy Research
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European Commission Grants Orphan Medicinal Product Designation for CAT-1004, Catabasis Pharmaceuticals’ Investigational Therapy for the Treatment of Duchenne Muscular Dystrophy

Catabasis Pharmaceuticals, Inc. (NASDAQ:CATB), a clinical-stage drug development company built on a pathway pharmacology technology platform, today announced that the European Commission (EC) has granted orphan medicinal product designation to CAT-1004 for the treatment of Duchenne muscular dystrophy (DMD). CAT-1004 is designed to inhibit activated NF-kB, a protein that plays an important role in muscle health. CAT-1004 is a potential disease-modifying therapy being developed to reduce muscle inflammation and degeneration and promote muscle regeneration in patients affected by DMD regardless of the underlying dystrophin mutation. The U.S. Food and Drug Administration (FDA) has previously granted Fast Track, Orphan Drug, and Rare Pediatric Disease Designations for CAT-1004 for the treatment of DMD.


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Rescooped by Filippo Buccella from Duchenne Muscular Dystrophy Research
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Ad Comms Update: Defining Unmet Medical Need - PPMD Community

Ad Comms Update: Defining Unmet Medical Need - PPMD Community | Duchenne scoop page | Scoop.it
After yesterday’s news regarding the Ad Comms for both BioMarin and Sarepta, the community continues to ask questions. PPMD has been working around the clock…

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ParentProjectMD's curator insight, October 15, 2015 4:06 PM

After yesterday’s news regarding the Ad Comms for both BioMarin and Sarepta, the community continues to ask questions. PPMD has been working around the clock to get some answers and will continue to share information with you as it becomes available. One topic of discussion is the question of ‘unmet need’ – if one therapy is approved does that hurt the potential of the other therapy because there is no longer the urgency of unmet need?

Rescooped by Filippo Buccella from Digital Health
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Apple Expands ResearchKit To Autism, Epilepsy And Melanoma Studies

Apple Expands ResearchKit To Autism, Epilepsy And Melanoma Studies | Duchenne scoop page | Scoop.it

Apple is expanding its ResearchKit program with three new studies and three new partner universities. This time, Apple will help research studies on autism, epilepsy and melanoma.As a reminder, ResearchKit is a set of tools for collecting participant consent, conducting surveys and assigning active tasks to participants that they can perform to help researchers achieve specific study goals. It lets researchers leverage Apple devices for their studies.If users agree to share these sets of data, researchers can collect data from iPhones, Apple Watches and now iPads as well as iOS accessories, which is great if you want to measure blood pressure, glucose levels and more. Researchers can take advantage of the accelerometers, gyroscope, heart monitor, GPS sensor, microphone and more.


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Rescooped by Filippo Buccella from Duchenne Nation Research News
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Mouse model of Duchenne muscular dystropy identifies potential new approaches to therapy

Mouse model of Duchenne muscular dystropy identifies potential new approaches to therapy | Duchenne scoop page | Scoop.it
Genetic ablation of P2RX7 can improve muscle function and partially correct cognitive impairment and bone loss in a mouse model of Duchenne muscular dystrophy, according to a study published this week in PLOS Medicine. The study, conducted by Dariusz Gorecki of the School of Pharmacy and Biomedical Sciences, University of Portsmouth, UK and colleagues, additionally suggests that P2RX7 antagonists can reduce certain DMD phenotypes in these mice.

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Rescooped by Filippo Buccella from Healthtrends
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E-santé : Imedicup, une coupelle à médicaments connectée pour les personnes âgées et malvoyantes — Silver Economie

E-santé : Imedicup, une coupelle à médicaments connectée pour les personnes âgées et malvoyantes — Silver Economie | Duchenne scoop page | Scoop.it
Imedicup est une coupelle à médicaments connectée destinée aux personnes âgées ou aux personnes malvoyantes conçue par la société Medissimo.

Via Thierry Kermorvant
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Rescooped by Filippo Buccella from Duchenne Nation Research News
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Simvastatin Associated With Functional Improvement in Muscular Dystrophy

Simvastatin Associated With Functional Improvement in Muscular Dystrophy | Duchenne scoop page | Scoop.it
Read how Simvastatin is Associated With Functional Improvement in Muscular Dystrophy

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First treatment for muscular dystrophy to be offered to an NHS patient next month

First treatment for muscular dystrophy to be offered to an NHS patient next month | Duchenne scoop page | Scoop.it
Studies suggest that the revolutionary drug can slow the progression of Duchenne's muscular dystrophy (DMD) by correcting the genetic faults that cause the devastating symptoms.

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Deb Robins's curator insight, October 12, 2015 7:36 AM

Prof Katie Bushby comments so appropriately, to capture the significance of the event for her countrymen.

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News from 2015 World Muscle Society: Day 1 - PPMD Community

News from 2015 World Muscle Society: Day 1 - PPMD Community | Duchenne scoop page | Scoop.it
Dr. John Porter and Kathi Kinnett from the PPMD team are attending the World Muscle Society (WMS) meeting in Brighton, UK and will be reporting back over the…
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Rescooped by Filippo Buccella from Duchenne Nation Research News
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Capricor Awarded $3.4 Million Grant from California Institute for Regenerative Medicine

Capricor Awarded $3.4 Million Grant from California Institute for Regenerative Medicine | Duchenne scoop page | Scoop.it
LOS ANGELES, March 17, 2016 /PRNewswire/ -- Capricor Awarded $3.4 Million Grant from California Institute for Regenerative Medicine. Funds Will Provid

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Rescooped by Filippo Buccella from Duchenne Nation Research News
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Marathon Pharmaceuticals Announces Nationwide Expanded Access Program 

Marathon Pharmaceuticals Announces Nationwide Expanded Access Program  | Duchenne scoop page | Scoop.it
NORTHBROOK, Ill., March 9, 2016 /PRNewswire-USNewswire/ -- Marathon Pharmaceuticals Announces Nationwide Expanded Access Program for Patients with...

Via Deb Robins
Filippo Buccella's insight:
Choice will be good. Not sure there's a great gap in outcomes however. 
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Deb Robins's curator insight, March 10, 11:22 PM
Choice will be good. Not sure there's a great gap in outcomes however. 
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WCRS Holds Duchenne Dash Photography Exhibition | LBBOnline

WCRS Holds Duchenne Dash Photography Exhibition  | LBBOnline | Duchenne scoop page | Scoop.it
Little Black Book, WCRS Holds Duchenne Dash Photography Exhibition . 24-hour London to Paris charity cycle ride aids charity 'Duchenne Children's Trust
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Rescooped by Filippo Buccella from Digital Health
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Do Patients Rely on Mobile Healthcare Apps More Than Their Doctors?

Do Patients Rely on Mobile Healthcare Apps More Than Their Doctors? | Duchenne scoop page | Scoop.it

In the not-so-distant past, patients had only one source for healthcare expertise — their personal physicians. They relied on doctors to monitor their symptoms, track changes in their health, manage their diseases and personalize their care. But in recent years, mobile technology and the Internet of Things (IoT) has changed all that.Now, armed with wearables and mobile healthcare apps, individuals can monitor their own health data and get continuous guidance and information from the devices they carry with them every day.But the availability of digital health tools is a double-edged sword for the medical industry. Patients are becoming more engaged in their own wellness and taking greater responsibility for staying healthy, which leads to better outcomes. On the other hand, as they rely more on these tools, are they relying less on the robust insights and expertise of medical professionals?


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Rescooped by Filippo Buccella from Duchenne Nation Research News
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Adaptive Licencing White Paper

Adaptive Licencing White Paper | Duchenne scoop page | Scoop.it

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Deb Robins's curator insight, November 24, 2015 7:15 AM

A very interesting read informing any discussions of the prior trajectory of early access.

Rescooped by Filippo Buccella from Duchenne Muscular Dystrophy Research
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Marathon Pharmaceuticals Receives Rare Pediatric Disease Designation from FDA for Deflazacort as a Potential Treatment of Duchenne Muscular Dystrophy | Business Wire

Marathon Pharmaceuticals Receives Rare Pediatric Disease Designation from FDA for Deflazacort as a Potential Treatment of Duchenne Muscular Dystrophy | Business Wire | Duchenne scoop page | Scoop.it
Marathon Pharmaceuticals announced that the FDA has granted rare pediatric disease designation for deflazacort, a potential treatment for patients wit

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Rescooped by Filippo Buccella from e-Santé Marketing Santé innovant
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Transformation in Healthcare

Transformation in Healthcare | Duchenne scoop page | Scoop.it
NHIT Week is all about healthcare transformation. This infographic highlights how today’s patient demands are driving IT transformation.

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Rescooped by Filippo Buccella from Duchenne Nation Research News
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PTC Results from Phase 3 ACT DMD Clinical Trial of Translarna™ (ataluren) in Patients with DMD

- PTC plans to complete rolling NDA submission to the FDA by end of 2015 

- Totality of clinical data demonstrate Translarna's ability to slow disease progression for patients with nonsense mutation Duchenne muscular dystrophy 

- 15 meter benefit observed in 6MWD in overall study population (p=0.213, n=228) 

- 47 meter benefit observed in 6MWD in pre-specified subgroup of 300 - 400 meters at baseline (p=0.007, n=99) 

- Pre-specified meta-analysis of combined ACT DMD and Phase 2b studies demonstrated benefit in Translarna-treated patients across primary (p=0.015, n=291) and key secondary efficacy endpoints 

- Strong safety profile of Translarna confirmed, consistent with previous studies 

 


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Deb Robins's curator insight, October 15, 2015 9:40 PM

PTC narrowing down the likely candidates for best outcomes. View the Oct 15 presentation:  (cut & paste in your browser)

http://files.shareholder.com/downloads/PTCT/867165279x0x854777/D3E48095-4972-4E6E-A533-E143B1090571/PTC_2015-10-15_ACT_DMD_slides_public_call_Thurs_5pm.pdf

 

Rescooped by Filippo Buccella from Healthtrends
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46% of Clinicians Believe mHealth Apps Will Improve Patient Engagement

46% of Clinicians Believe mHealth Apps Will Improve Patient Engagement | Duchenne scoop page | Scoop.it
46 percent of clinicians believe mHealth apps will improve the clinician-patient relationship and plan to introduce mobile health apps to their practice.

Via Thierry Kermorvant
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Rescooped by Filippo Buccella from Healthtrends
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Digital transformation improving the healthcare experience

Digital transformation improving the healthcare experience | Duchenne scoop page | Scoop.it
Digital transformation improving the healthcare experience http://t.co/nyX3DQD2ZE

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Rescooped by Filippo Buccella from Duchenne Muscular Dystrophy Research
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PPMD’s PRO Project: Adding more tools to help with upcoming clinical trials in Duchenne

PPMD’s PRO Project: Adding more tools to help with upcoming clinical trials in Duchenne | Duchenne scoop page | Scoop.it
What’s a PRO?

Several patient-report outcomes (PROs) have been validated for use in people with Duchenne and their caregivers. Patient-report outcomes are a…

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ParentProjectMD's curator insight, October 13, 2015 1:48 PM

PPMD’s DuchenneConnect, with support from Bristol-Myers Squibb, is working to identify areas that are important to our community but have been previously underrepresented in clinical trials. 

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News from 2015 World Muscle Society: Days 2-3 - PPMD Community

News from 2015 World Muscle Society: Days 2-3 - PPMD Community | Duchenne scoop page | Scoop.it
Dr. John Porter and Kathi Kinnett from the PPMD team recently attended the World Muscle Society (WMS) meeting in Brighton, UK and will be reporting back over…
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