News

Sarepta Therapeutics’ Investigational Gene Therapy SRP-9003 for the Treatment of Limb-Girdle Muscular Dystrophy Type 2E Shows Sustained Expression and Functional Improvements 2 Years After Administration

 

3/18/21

-- Protein expression in muscle was sustained for two years following treatment in the low dose cohort, with mean beta-sarcoglycan expression of 54% at 24 months, compared to 36% at Day 60, as measured by western blot --

-- Mean NSAD score improvement of 5.7 points from baseline was sustained through 24 months in low-dose cohort, and mean NSAD score improvement of 4.0 points from baseline at one year in high-dose cohort --

-- Results in both cohorts continue to reinforce the safety and tolerability profile of SRP-9003 --

 

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ATAMYO THERAPEUTICS: THE NEW WEBSITE IS NOW ONLINE

The Atamyo Therapeutics website is now accessible! Atamyo's mission is to provide a new generation of quality gene therapies for patients with neuromuscular diseases.

 
Currently, the pipeline focuses on 5 subtypes of LGMD:
- LGMD-R9 / LGMD2I
- LGMD-R5 / LGMD2C
- LGMD-R1 / LGMD2A
- LGMD-R2 / LGMD2B
- LGMD-R3 / LGMD2D
 
Here the Atamyo website:    https://atamyo.com
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sarepta community bulletin: covid-19 vaccination and gene therapy

sarepta community bulletin

SAREPTA COMMUNITY BULLETIN: COVID-19 VACCINATION AND GENE THERAPY

Sarepta has received many questions related to COVID-19 vaccines and gene therapy. Here, we provide current answers to some of these frequently asked community questions. Answers are based on the information available as of December 18, 2020, and are subject to change based on new information. For more on COVID-19 vaccines, please view the CDC’s COVID-19 website.

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LET'S PARTICIPATE WITH GFB AT THE RARE DISEASE DAY - FEBRUARY 28th 2021

World Rare Disease Day will reach its fourteenth edition on February 28th 2021 and promotes equity worldwide as access to equal opportunities that can enhance the potential of people with rare diseases.

 

PARTICIPATE IN THE PROJECT LET'S TURN THE LIGHTS ON RARE DISEASES

We ask you to join the awareness campaign "Let's turn the lights on rare diseases", promoted by Uniamo Italian Federation of Rare Diseases,  italian national coordinator of the Day. The initiative will take place on  February 28th  and will be picked up by the local and national press as well as on the Federation’s official social networks.
In particular, we ask you to illuminate a monument in your city, in the colors of the day (blue, pink, purple, green or one of your choice). GFB is organizing the event in some Italian cities, participating is simple, we give you a form to fill out and you have to deliver it to your municipality.
To participate: This email address is being protected from spambots. You need JavaScript enabled to view it. or +39 349 3374060.
 
GFB SUBSCRIPTIONS:

LOMBARDY:
  1. CAIOLO  SO Italy, city hall
  2. CASTIONE ANDEVENNO   SO Italy, Leone Trabucchi auditorium - San Rocco 
  3. CASTIONE ANDEVENNO   SO Italy, car dealership Motori Sondrio srl - via Vanoni 57
  4. PIURO   SO Italy, Acquafraggia Waterfalls  
  5. PONTE IN VALTELLINA   SO Italy, city hall
  6. PONTE IN VALTELLINA   SO Italy, Learning Bridge Cultural Centre 
  7. ROGOLO   SO Italy, city hall
  8. SONDRIO   SO Italy, car dealership Motori Sondrio srl - via Trento 20
  9. TALAMONA   SO Italy, city hall 
  10. VALDISOTTO   SO Italy, "Oga" Shrine - Beata Vergine del Caravaggio 
  11. VILLA DI TIRANO   SO Italy, Stone Bridge 
  12. AZZATE   VA Italy, city hall 
  13. BESOZZO   VA Italy, war memorial "Il Faro" 
  14. GAVIRATE   VA Italy, city hall  

VENETO:

  1. BREGANZE   VI Italy, city hall
  2. CASTELGOMBERTO   VI Italy, city hall
  3. CHIAMPO   VI Italy, Corinthian Column in Piazza Zanella
  4. MALO   VI Italy, San Bernardino Church 
  5. SCHIO   VI Italy, Statue of the Weaver in Piazza Rossi
  6. SCHIO   VI Italy, Firm Ecor S.p.A.
  7. THIENE   VI Italy, fountain in Piazza Chilesotti 
  8. ZANÈ   VI Italy, Firm UNIVER 2000 srl
  9. ZANÈ   VI Italy, P.le Aldo Moro social-cultural center  

TRENTINO-SOUTH TYROL: 

  1. CANAZEI   TN Italy, city hall 

EMILIA-ROMAGNA: 

     1. MODENA   MO Italy, "Del Graziosi" Fountain in Largo Garibaldi 

LAZIO:

  1. ALBANO LAZIALE   RM Italy, war memorial "Cecchina"
  2. MARANO EQUO   RM Italy, "Della Pietà" Church 

 

LOOK AT ALL THE MONUMENTS  IN  ITALY 

 

LOOK AT THE PHOTOGRAPHS OF THE CAMPAIGN  LET'S TURN THE LIGHTS ON RARE DISEASES

 

TAKE PART IN THE  PROJECT  adopt a rare disease day tulip

Do you want to receive a tulip bulb for rare disease day? Some European associations, including GFB, are sending them to their patients/supporters. Participation is free for everyone. Then you will have to undertake to take care of it and when it is in bloom you will send us your photograph with the tulip.
Send your request to: This email address is being protected from spambots. You need JavaScript enabled to view it. or +39 333 7965652.
bouquet 20 tulipani
 

PARTICIPATE IN OTHER NATIONAL INITIATIVES...

UNIAMO SOCIAL CAMPAIGN

Join the #UNIAMOleforze campaign and receive the official t-shirt of Rare Disease Day! Wear it and post a photo on your social channels tagging @uniamomalattierare.

MAGLIETTA 1 300x300

Starting from January 18th you can get your t-shirt by requesting it on the designated page on Uniamo website Giornata delle Malattie Rare 2021 – Uniamo FIMR Onlus . For any further information don’t hesitate to contact us: This email address is being protected from spambots. You need JavaScript enabled to view it. or +39 349 3374060.

You can also show your support on social media using the campaign graphic materials for Facebook and Instagram which you can download from the Uniamo website page above.

Don’t forget to use the campaign official hashtags: #rarediseaseday #UNIAMOleforze and tag @uniamomalattierare and @eurordis.   

UNIAMO PRESS CONFERENCE: LAUNCH OF THE SPOT rare disease day  

The following 29th January at 12.00am a press conference will be held on Zoom for the launch of the spot created by UNIAMO FIMR and directed by Maurizio Rigatti for Rare Disease DayYou can join this event by registering at the following link:  Webinar Registration 

UNIAMO SPOT RARE DISEASE DAY 2021 IS NOW ONLINE!

Watch the spot here  #UNIAMOleforze - Spot Giornata Malattie Rare 2021 - UNIAMO - YouTube   and share it using the hashtags #UNIAMOleforze #RareDiseaseDay and tag @uniamomalattierare. Uniamo spot, starring Italian actress Diana del Bufalo and directed by Maurizio Rigatti, will be broadcasted soon on Mediaset and Sky networks. 

UNIAMO OFFICIAL PAGE FOR RARE DISEASE DAY IS NOW ONLINE! 

You will find all the information about Rare Disease Day, you will be able to receive the official t-shirt and become part of UNIAMO SOCIAL WALL: a space where we can finally be close to one another, UNITED not to leave anyone behind. Discover the page  UNIAMO LE FORZE – Uniamo FIMR Onlus  and upload and share your photo using the hashtags #UNIAMOleforze #RareDiseaseDay and tag @uniamomalattierare.

RARE DISEASE DAY 2021 MAIN EVENT 

On Monday, 22nd February 2021 at 10.00am Rare Disease Day 2021 Main Event will be held on Zoom. The event will be coordinated by UNIAMO FIMR onlus, the Italian Ministry of Health and by the Rare Dieseases National Center of Istituto Superiore di Sanità. Join this event by registering hereWebinar Registration - Zoom

CLOSING PRESS CONFERENCE "RARE DISEASE DAY: UNIAMO LE FORZE"

On Thursday, 4th March 2021 at 10.00pm UNIAMO FIMR closing press conference for Rare Disease Day 2021 will be held on Zoom. Join this event by registering hereWebinar Registration - Zoom

 

PARTICIPATE IN THE EUROPEAN AND GLOBAL INITIATIVES...

GLOBAL CAMPAIGN “MEET OUR HEROES!”

6 continents, 6 portraits, 6 heroes, 6 lives. Rare Disease Day shines a light on the global and diverse community of over 300 million people - men, women and children, adolescents, young-adults, adults, seniors.

Here are the stories that will feature in this year's Rare Disease Day global campaign: each of these 6 stories present individuals living with a different rare disease, each of them facing similar challenges. Find out more about them on  Rare Disease Day ® 2021  at the page Rare Disease Day ® 2021 - News

AND DO YOU WANT TO TELL YOUR STORY?

You can also join Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your personal experience and also submit photos or a video testimonial by visiting the designated page Rare Disease Day ® 2021 - Tell your story!

EURORDIS BLACK PEARL AWARDS 2021 – 10th EDITION  

BLACK PEARL AWARDS is the annual global event held by EURORDIS to recognise the outstanding achievements and exceptional work of people making a difference for the rare disease community.

The 10th edition of the EURORDIS Black Pearl Awards will take place fully online on 24th February 2021, from 17:00. BLACK PEARL AWARDS is a free event open to everybody from all over the world. Registration has already opened. For any further information we advise you refer to the event’s official website EURORDIS Black Pearl Awards Rare Disease or feel free to contact us: This email address is being protected from spambots. You need JavaScript enabled to view it. or +39 349 3374060.

 

 

 

With the Patronage of

Patrocinio comune di Modena

 
 
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parent project usa: watch covid-19 vaccination & duchenne what you need to know

PARENT PROJECT USA: WATCH COVID-19 VACCINATION & DUCHENNE WHAT YOU NEED TO KNOW

We all have spent the last several months doing our best to keep ourselves and our families safe, while adjusting to this new virtual world. PPMD recognizes this has been nothing short of challenging, and we remain committed to providing support, community engagement, and the most accurate and up-to-date information possible during a time of unknowns. This extends to new learnings of COVID-19 vaccines, which PPMD believes to be the best form of protection against the virus, and we hope is a potential solution to alleviate this pandemic.

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