wissenschaftliche VeröffentlichungeN

Okt
28
2016

Vitamin könnte DMD mildern

 Siehe auch http://www.univadis.de/medical-news/173/Vitamin-koennte-Duchenne-Muskeldystrophie-mildern#?     siehe auch http://ww...

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Sep
23
2016

Sondernewsletter Duchenne Patientenregister

Quelle „Sonder-Newsletter des deutsch-österreichischen Duchenne Patientenregisters, September 2016“ FDA erteilt Zulassung für Eteplirsen (EXONDYS 51™, Firma Sarepta Ther...

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Jun
27
2016

Infos zur Genschere CRISPR

Zum Lesen der Berichte klicken Sie auch auf nachfolgende Links. http://www.zeit.de/zeit-wissen/2016/03/crispr-gentechnik-duchenne-gendefekt-veraenderung-dna http://www.zeit.de/thema/crispr ...

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Jun
07
2016

Zulassungsverfahren für Drisapersen wird eingestellt

Hier können Sie die Pressemitteilung von Biomarin über die Einstellung des Zulassungsverfahrens für Drisapersen lesen.

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Mai
04
2016

Santhera informiert über die Zulassung von Raxone®

Neue Daten von Santheras Phase-III-Studie (DELOS) in Duchenne-Muskeldystrophie (DMD) in Neuromuscular Disorders Raxone® reduziert bronchopulmonale Komplikationen bei Patienten mit DMD Lies...

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Apr
28
2016

7. Newsletter Patientenregister

   Da Dystrophinopathien selten sind, zählt jeder einzelne Patient!     Herzlich Willkommen zum 7. Newsletter des Deutsch-Österr...

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Apr
07
2016

Informationen zu CRISPR Cas 9

Mittels Gentherapie werden durch Virus-Fähren die Mutation in der Zelle per Exon-Skipping repariert. http://derstandard.at/2000028354768/Muskeldystrophie-bei-Maeusen-mit-Crispr-behandelt &n...

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Mär
18
2016

Informationen zu Utrophin

Summit Webinar zu Utrophin

https://www.youtube.com/watch?v=DQW5tJNrmY8

 

 

Mär
04
2016

Erfreuliche Entwicklung des Forschungspreises 2009

Forscher wollen Muskelschwund mit Immunglobulinen stoppen.

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Feb
23
2016

Tadalafil

Update zu TADAFIL Die Lilly-Studie zeigt leider keine positiven Ergebnisse. Von daher sind die weiteren Untersuchungen eingestellt.  

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Jan
08
2016

PTC Therapeutics

Veröffentlichung vom 08.01.2016

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Dez
10
2015

Biomarkeridentifizierung und Anwendung bei der Muskeldystrophie Typ Duchenne

Zwischenbericht Juli - Dezember 2015 Biomarkeridentifizierung mithilfe der systematischen Muskelproteom-Analyse und die diagnostische Anwendung und verbesserte Evaluierung neuer Therapieansätz...

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Dez
01
2015

Familienratgeber

Der Familienratgeber "Diagnose und Behandlung der Muskeldystrophie Duchenne" ist nun auch online verfügbar. Durch klicken auf den nachfolgenden Link öffnet sich die Internetseite d...

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Nov
16
2015

Beitrag der Ärzte Zeitung

Muskeldystrophie Bei Duchenne Stammzellen beeinträchtigt Bei der Muskeldystrophie Duchenne spielt auch eine Dysfunktion der Muskelstammzellen eine entscheidende Rolle. OTTAWA. Einem...

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Aug
01
2015

BioMarin Update

August 2015

BioMarin: Quarterly Update to the Duchenne Community

In an effort to provide regular communication on our DMD programs to the Duchenne community, we are circulating a quarterly update. This update is the first of its kind for BioMarin, and we welcome your feedback to this new communication channel, which you may do by contacting BioMarin Patient Advocacy (contact details below). 

Who We Are

BioMarin focuses on developing first-in-class or best-in-class treatments for patients with rare genetic diseases. We are based in Marin County in Northern California and began operations in 1997. Since that time, we have developed and commercialized five products. BioMarin remains steadfast to its original mission—to bring new treatments to market that will make a big impact on small patient populations. 

Our acquisition of Prosensa in January 2015 fits strategically with our mission of delivering therapies that address serious unmet medical needs. It is a privilege to collaborate with the Duchenne community, and we look forward to updating you as our programs progress.  

Regulatory Updates

We are thrilled by the progress we have made on the regulatory milestones for drisapersen in the short time since we completed our acquisition of Prosensa.  

  • New Drug Application (NDA) for drisapersen in the United States

Drisapersen is an investigational exon-skipping drug candidate for the treatment of the largest genetically defined subset of DMD, those amenable to skipping exon 51.

On June 27, 2015 the Food & Drug Administration (FDA) accepted for filing our New Drug Application (NDA) for drisapersen.  The Prescription Drug User Fee Act (PDUFA) goal date for a decision is December 27, 2015.  The FDA has granted drisapersen Priority Review status, which is designated to drugs that offer major advances in treatment, or provide a treatment where no adequate therapy exists.  A Priority Review designation directs FDA’s overall attention and resources to the evaluation of applications for treatments that, if approved, would be significant improvements in the safety or effectiveness of the treatment, diagnosis, or prevention of serious conditions.  We expect an Advisory Committee panel to convene later in the year to review the drisapersen NDA. 

As the first NDA submitted for a potentially disease modifying therapy for Duchenne, this is an important milestone for the community, and we are grateful for the dedication of the families and their sons who have helped make this possible. 

 

  • Marketing Authorization Application (MAA) for drisapersen in the European Union

On June 25, 2015 the European Medicines Agency (EMA) validated the Marketing Authorization Application (MAA) for drisapersen for the treatment of DMD amenable to exon 51 skipping. Validation of the MAA confirms that the submission is complete and starts the EMA's standard review process.  This puts drisapersen in line for a potential Committee for Medicinal Products for Human Use (CHMP) opinion in the first half of 2016 and a European Commission Decision by the third quarter of 2016.

 

Extension Studies of Continued Administration of Drisapersen

Maintenance of dosing for chronic disease through approval has been a hallmark of all BioMarin’s programs to date, and we are committed to re-initiate investigational therapy in previously treated boys and young men where possible. There are three separate clinical trials underway for providing extension treatment of drisapersen for those who previously participated in clinical trials. In addition to the standard subcutaneous route of administration, we will be introducing an IV formulation to provide another option for patients in each of these studies.

Study

Number

Protocol

Highlights

Countries

Eligibility  

Study Purpose

Status

DMD115501

(initiated via protocol amendment)

No biopsies; weekly visits with possibility of home dosing option where feasible

United States,

Canada

Prior

DMD114876

subjects

Prior

DMD114349

subjects from US & Canada

Assess long-term safety, tolerability and efficacy

Study Ongoing

DMD114673

(initiated via protocol amendment)

No biopsies

Belgium &

Sweden

Prior

DMD114673

subjects

Assess effect, safety & tolerability of longterm treatment and safety, tolerability & PK of IV administration

Study Ongoing

BMN051-302

(new protocol)

No biopsies

Global

Prior

DMD114349

subjects

Prior

DMD114118

subjects

Assess effect, safety & tolerability of longterm treatment and safety, tolerability & PK of IV administration

Protocol finalized; Regulatory submissions in progress; recruitment to begin in Q3

 

                

Additional Studies with drisapersen:

We plan to initiate additional studies for drisapersen, in both younger populations in addition to nonambulant populations, to begin in the 4th quarter and 1st half of 2016. In order to provide more choice to patients, an IV option may also be available in these studies. The protocols for these studies are being developed, and we will provide updates on timelines as soon as we can.

Additional DMD Programs:

While our priority at the moment is to provide as many patients as possible with access to drisapersen through extension treatment and a potential regulatory approval, we are committed to our follow-on exon skipping compounds and have a team that is actively working on these. Though the chemistries of these compounds are similar to drisapersen, we cannot assume that the same dose, schedule and mode of administration applies to these populations. Therefore, we are working on a development program looking at different dose regimens and schedules for each of these compounds, and are continuing to evaluate the data that are emerging. We will continue to update the community as we make progress on these. 

Below is the status of the follow-on exon skipping compounds that are currently in clinical trials:

  • BMN 044 (Enrolling) o Extension study from (PRO044-CLINI-01/NCT01037309) was initiated in December 2014 in Europe (Belgium, Italy, Netherlands, Sweden) and is currently ongoing. 
    • Only patients who previously participated in the dose escalation phase (PRO044-CLIN-

01/ NCT01037309) are eligible for this extension study o The study is expected to complete in December 2016.

  • We are working on the protocol for a Phase II study of BMN 044, which will include sites in the US. We plan to initiate this in early 2016.

 

  • BMN 045 (Active, not currently recruiting) o This Phase I/II study began in January 2013 with the dose escalation phase and is ongoing in Europe (Belgium, France, Italy, Netherlands, UK)
    • Treatment has been investigated in 15 patients, and boys have been treated for up to 100 weeks. 
    • Data are emerging from these first dose finding cohorts, and we are reviewing the data with academic experts to determine the most appropriate next steps. Final conclusions have not been reached and further analysis and interpretation are ongoing. We will make a decision on next steps following the full evaluation.

 

  • BMN 053 (Active, not currently recruiting) o This Phase I/II study began in August 2013 with the dose escalation phase and is ongoing in Europe (Belgium, France, Italy, Netherlands, UK)
    • Data are emerging from these first dose finding cohorts, and we are reviewing the data with academic experts to determine the most appropriate next steps. Final conclusions have not been reached and further analysis and interpretation are ongoing. We will make a decision on next steps following the full evaluation.

 

  • Natural History Study (Enrollment Complete) o Nearly 270 pediatric patients between the ages of 3-18 were enrolled
    • We recently presented the results from 77 ambulatory boys who have been followed for 12 months.
    • These results further describe the relationship between baseline characteristics (how boys function at the beginning of a study), including age and six-minute walking distance and how the disease progresses. These findings are consistent with that reported in other natural history studies.[1]

 

We are grateful for the continued support from the Duchenne community and look forward to continuing our work together and fostering our relationships with the patient community as we move forward. 

 

Kind regards,

 

BioMarin Patient Advocacy

 

Aug
18
2015

Studie zu Psychomotorik bei Jungen mit DMD

Bewegungsförderung ist aktuell Gegenstand wissenschaftlicher Studien im Bereich Muskelerkrankungen. Ebenso wird das Selbstkonzept als ein bedeutsamer Resilienzfaktor in der Gesundheitsförderung von Menschen mit neuromuskulären Erkrankungen diskutiert. Ziel dieser Studie war die Entwicklung und Evaluation einer psychomotorisch orientierten Selbstkonzeptförderung von Jungen mit Duchenne Muskeldystrophie (DMD).

Mai
26
2015

Slides zu Ataluren

Webinar "Neue Therapieoptionen in der Behandlung der DMD"    Hier könnt ihr euch die Präsentation des Webinars vom 26.03.2015 anschauen. Auf insgesamt 40 Seit...

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Mär
26
2015

Cardio Carrier

Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging

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Feb
23
2015

Biomarkeridentifizierung und Anwendung bei der Muskeldystrophie Typ Duchenne

K. Ohlendieck Muscle Biology Laboratory, Department of Biology, National University of Ireland, Maynooth, Ireland Die progressiv verlaufende Muskeldystrophie vom Typ Duchenne ist gekennzeichn...

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Feb
17
2015

Neuigkeiten aus dem Greifswald

Zum Pathomechanismus der Duchenne-Muskeldystrophie: Neue Erkenntnisse zur Muskelfaserdegeneration und Fibrose Muskeldystrophien sind erblich bedingte Erkrankungen, die zu fortschreitendem ...

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Mär
18
2014

Globe Newswire

Prosensa Announces Full Year 2013 Financial Results and Recent Corporate Developments Prosensa Committed to Defining a Path Forward for Its Lead Product, Drisapersen LEIDEN, The Netherlands, Mar...

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Mär
17
2014

Globe Newswire

Prosensa Announces 48-Week Data from a U.S. Phase II Placebo-Controlled Study of Drisapersen in 51 DMD Boys Clinically meaningful improvement from 24-week treatment period was maintained for 24 wee...

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Nov
07
2013

Globe Newswire

Prosensa Enrolls 100th Patient to its Natural History Study of Duchenne Muscular Dystrophy Leiden, The Netherlands, Nov. 7, 2013 (GLOBE NEWSWIRE) Prosensa Holding N.V. (NASDAQ: RNA), the Dut...

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Jun
01
2013

forum bochum Ausgabe-Nr. 3

Das Magazin "forum bochum - Gesundheit und Lebensqualität für unsere Stadt" hat in ihrer Ausgabe Nr. 3 über unsere Forschungspreisverleihung berichtet.

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Apr
01
2013

Gepflegt durchatmen Ausgabe-Nr. 20

In der Fachzeitung für außerklinische Intensivversorgung "Gepflegt durchatmen" wurde über die Deutsche Duchenne Stiftung berichtet:

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