Gene therapy project about LGMD2E funded by GFB PDF Print E-mail



In 2012 the beta-sarcoglycan gene transfer project for treatment of Limb Girdle Muscular Dystrophy Type 2E had already been started at the Research Institute by Nationwide Children’s Hospital - Columbus Ohio.

Dr. J.R. Mendell and Dr. L. Rodino Klapac had started their work, the scientific way to be followed is based on their experiences, gained by completing a similar trial for the treatment, throughout a gene transfer therapy, of the Limb Girdle Muscular Dystrophy Type 2D.

Dr. Mendell explained in details aims and phases of the pathway to be followed:

Aim 1. Determination of pre-clinical efficacy of the transfer of human b-sarcoglycan gene, using recombinant adeno-associated virus to act as delivery vehicle, in b-sarcoglycan deficient mice. Time required: one year.

Aim 2. Regulatory preparation for a “recombinant adeno-associated virus human b-sarcoglycan” gene transfer intramuscular clinical trial, including formal toxicology/biodistribution study and clinical vector production. Time required: about one year.

Aim 3. Perform an intramuscular clinical gene therapy trial with recombinant adeno-associated virus human b-sarcoglycan transfer (into the “extensor digitorum brevis” muscle) in LGMD2E patients. Time required: about one year starting since the closing of the previous aim.



Currently the second phase of the project is finished. On August 2015 was published the first and the second steps of the project on Gene Theraphy magazine. Beta-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice .

read the abstract



On March, 17th GFB ONLUS took part to the congress Myology 2016 in Lyons, where we met Prof. Mendell. Present were Beatrice Vola (President of GFB), Marco Perlini (Vice President), Dr. Francesca De Santis (Polyclinic Hospital of Milan) and an interpreter.



SEPTEMBER 2016Another big effort for the association with its offices in Talamona in the province of Sondrio. On Friday, 9th September GFB ONLUS sent another contribution to Columbus Ohio, of 202.500 $. From 2012 up to now we have financially supported the American laboratories with a total of 1.322.500 $. GFB is at the moment the only financier of the project.

On April 2017 was published the second article about  the Gene Therapy project.

"Systemic AAV-Mediated Beta-sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorated Histological and Funcional Deficits in LGMD2E Mice"

read the abstract


MAY 2017 : Myonexus Therapeutics Company is finally born - the journey towards the clinical trial

The aim of Myonexus Therapeutics Company, born in Columbus in May 2017, is to develop the gene therapy for Limb-girdle muscular dystrophy (LGMD) types 2B, 2C, 2D, 2E and 2L (within year 2027).
GFB Onlus is entered in the Myonexus. Our association, which represents one of the Company backers, sent on June 15th 2017 a total amount of 225.000 $. Together with GFB Onlus, both LGMD2D Foundation and KURT + PETER Foundation have contributed in this project as well.
Particularly, as regarding LGMD2E, two different clinical trials are planned, respectively for years 2017 and 2020; the last one (of 2020) will take place in Milan, too.


MAY 2018GFB Onlus Announces that Myonexus, a Biotechnology Company in which it has Invested, Signed an Exclusive Partnership with Sarepta Therapeutics for the Advancement of Multiple Gene Therapy Programs Aimed at Treating Distinct Forms of Limb-Girdle Muscular Dystrophies

On May 3rd, 2018 Sarepta Therapeutics, Inc. (NASDAQ:SRPT), a commercial-stage biopharmaceutical company focused on the discovery and development of precision genetic medicine to treat rare neuromuscular diseases, and Myonexus Therapeutics, Inc., a clinical-stage biotechnology company developing transformative gene therapies for various forms of Limb-girdle muscular dystrophies (LGMDs), entered into an exclusive partnership to advance multiple gene therapy programs aimed at treating distinct forms of LGMDs.

GFB Onlus took part at the signing of this agreement between Sarepta and Myonexus, two biotechnology companies headquartered in the United States. GFB Onlus financed most of the pre-clinical work on MYO-101, the LGMD2E Gene Therapy.

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Myonexus Therapeutics has announced the start of a systemic gene therapy clinical trial for Beta-sarcoglycanopathy, or LGMD2E. The first patient of the Trial was treated in October 2018 and all the patients of the first group will be treated in 2018, the first results will be announced in early 2019. Michael Triplett, president of Myonexus, has declared that Myo-101 can be the first complete therapy for LGMD2E patients. Myo-101 is the culmination of years of hard work and experiments, added Dr. Jerry Mendell.



On  February 27, Sarepta published preliminary results on the first gene therapy trial performed on patients with LGMD2E in Columbus Ohio, USA. Program in which the first three patients treated demonstrated the robust and widespread expression of the beta-sarcoglycan protein. Following these promising results Sarepta announced that it will acquire Myonexus Therapeutics.
Here the results published


OCTOBER 2019 Gene Therapy SRP-9003 Showing Very Encouraging Results at 9 Months in LGMD , Sarepta Reports

New nine-month data from a Phase 1/2 trial show that a single administration of the gene therapy SRP-9003 (formerly, MYO-101) at low dose significantly improved functional measures and lowered the levels of a biomarker of muscle damage in three children with limb girdle muscular dystrophy (LGMD) type 2E.

Read more



If you or anybody else is interested in this project and wishes to get more information about it, please contact us to: This e-mail address is being protected from spambots. You need JavaScript enabled to view it



In 2015 the GFB ONLUS had to change its accounting system so to be able to to finance, for the first time, the American projects directly from the association’s bank account. For this purpose a special FUND FOR RESEARCH was created on its bank account of Banca Prossima. All donations on the account will be used to finance theAmerican projects and the scientific researches on the LGMD2E.

HEADING FOR RESEARCH FUND: Gruppo Familiari  Beta-sarcoglicanopatie Onlus

IBAN:  IT33X0335901600100000076500


The GFB ONLUS is the only association in the world existing for LGMD2E, this project for the gene therapy is the only ongoing project in this moment for this pathology and the only hope for these patients.



November 8th-11th 2011: Participation of Beatrice Vola in the TREAT-NMD INTERNATIONAL CONFERENCE in GENEVA; 8-11 NOVEMBER 2011 meeting: Beatrice Vola and Prof. Jerry Mendell, Columbus USA.

May 16th 2012: first conference call with Dr. Mendell and Dr. Rodino, participation of Dr. Cerletti and Bonetti, Fam. Gonella Andrea, Beatrice Vola and Perlini Marco.

July 24th 2012: second conference call with Dr. Mendell and Dr. Rodino, participation of Dr. Cerletti and Bonetti, Fam. Gonella Andrea, Beatrice Vola and Perlini Marco. Start of the first phase with a funding of $ 172,500

November 1st-2nd  2012: Meeting: Dr. Massimiliano Cerletti in Columbus OHIO USA and Dr Jerry Mendell for discussing the state of gene therapy on sarcoglycan and the ongoing project on the beta.

April 19th 2013: First National Conference GFB Milan, meeting: the GFB, Dr. Mendell and Dr. Rodino.

First National Congress GFB, april 19th 2013, Milan Italy. From left Gonnella A.,

Dr.ssa Rodino Klapac L., Prof. Mendell J., Vola B., Dr.ssa Bonetti P., Perlini M.


October 28th 2013: Third Conference Call of the GFB, Dr. Mendell and Dr. Rodino, participation of Dr. Cerletti and Bonetti, Fam. Gonella Andrea, Beatrice Vola and Perlini Marco for discussing on the report of the first phase. Start of the second phase with the second contribution of $ 373,750.

September 2014: Fourth conference call with Dr. Mendell (participating Dr. Rodino, Dr. Cerletti, Bonetti, Vola, Perlini, Gonnella) for an update on the progress of the second phase. An additional contribution of $ 373,750.

January 15th 2015: meeting "Gene Therapy and clinical trials for MD" with Dr. Alessandra Govoni, Policlinico of Milan (Participants Gonella, Dr. Bonetti, Perlini, Vola). Dr. Alessandra Govoni worked in 2014 in Columbus with Prof. Mendell.

august 20th 2015: the article  "Beta-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice" of Prof. Mendell and Rodino was pubblished on the scientific magazine Gene Therapy.

November 20th 2015: fifth conference call with Prof. Mendell (partecipating Dr.ssa Rodino, Dr. Pozgay, Cerletti, Bonetti, Torrente, Vola, Perlini, Gonnella) for discuss the start of the clinical trial for LGMD2E. Start of the first clinical trial for LGMD2E with the fourth contribution of $ 200,000.

March 17th 2016: Myology 2016 Congress, Lyon (Partecipating Prof. Mendell, Perlini, Vola, De Santis Francesca for Yvan Torrente), for discussing the systemic clinical trial for LGMD2E.

From  left Dr.ssa De Santis F., Vola B., Prof. Mendell J., Perlini M.


March 24th 2016: sexth conference call with Prof. Mendell (partecipating Prof Mendell, Dr.ssa Rodino, Torrente, Bonetti, Vola, Perlini, Gonella), for discussing the systemic clinical trial for LGMD2E.

May 5th 2016:     GFB ONLUS Scientific-medical Comittee meeting at Policlinico of Milan (partecipating Prof Torrente, Dr. Bonetti, Vola, Perlini, Gonella, Rigoni), for discussing the fifth report of Columbus.

GFB ONLUS families and sponsors meeting (partecipating families Vola, Perlini, Gonnella, Rigoni, Ferrari, Gazzola, Adamczyk, Vinci for Walter Vinci Onlus association), for discussing the american gene therapy projects.

September 8th 2016: seventh conference call with Dr. M. Triplett (partecipating Dr. Bruce Halpryn, Vola, Perlini, Gonnella) for discussing the Myonexus Therapeutics Company. An additional contribution of 202.500 $.

April 4th 2017:  the article  "Systemic AAV-Mediated Beta-sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorated Histological and Funcional Deficits in LGMD2E Mice" of Prof. Mendell and Rodino was pubblished on the scientific magazine Gene & Cell Therapy.

April 20th  2017: eight conference call  with Dr. M. Triplett (partecipating Rev1 Ventures, Dr. Bruce Halpryn, prof. Torrente, Vola, Perlini, Gonnella)  for discussing the Myonexus Therapeutics Company.

May 15th 2017: The Myonexus Therapeutics Company was born.

June 15th 2017: GFB ONLUS enter into the Myonexus Therapeutics Company with 225.000 $.

April 30th 2018:  ninth conference call  with Dr. M. Triplett (partecipating Vola, Perlini, Gonnella)  for discussing the agreement between GFB Onlus - Myonexus - Sarepta for Myo-101 develop.

May 2th 2018:  GFB Onlus participates in the signing of the Myonexus - Sarepta agreement.

May 17th 2018:  first meeting of SAB (Scientific Advisor Board) in Chicago, the GFB is represented by Yvan Torrente, it is the first meeting of the scientific medical committee of Myonexus.

June 13th 2018:  tenth telephone call with the PAB (Patient Advisor Board), (participates Vola Perlini), it is the first meeting of the Myonexus patient committee. The role of patient associations is discussed.

October 2018: the first gene therapy treatments on LGMD2E patients start in Columbus. The project for the creation of an Italian patient registry for LGMD2E begins at the Milan Polyclinic.

November 30th 2018: eleventh telephone call for the patient register (Vola, Perlini, Dr. Torrente Yvan, Marchetti Giulia, Bruce Halpryn, Chris Jones participate). Coordination for the creation of registries for LGMD2E and other LGMD2D-2C dystrophies starts.

February 27th  2019: twelfth telephone call (Vola, Perlini, Michael Triplett participate). The preliminary results of the clinical trial for LGMD2E and the early acquisition of Myonexus in Sarepta are discussed.

March  11th   2019: webinar of Sarepta with members of the PAB  Myonexus Patients Advisor Board.

May 1st 2019: ASCGT congress in Washington, Dr. Torrente meet Sarepta Staff and prof. Mendell.

May 21st-23th 2019: webinar (Tamara Wyzansky, other Sarepta Members, other american patient foundations, Beatrice Vola, Perlini Marco, Marchetti Giulia). Patients role  and clinical trials structure  are discussed.

July 31th 2019: fourteenth telephone call (Tamara Wyzansky-Sarepta, Beatrice Vola, Marco Perlini). The creation of a mosaic with patients photographs  with Lgmd and their cargivers was discussed.

October 4th 2019: Sarepta Reports - Gene Therapy SRP-9003 Showing Very Encouraging Results at 9 Months in LGMD2E.




Gene Therapy SRP-9003 Showing "Very Encouraging" Results at 9 Months in Limb Girdle MD, Sarepta Reports

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Distrofia dei cingoli 2E, nuovi risultati positivi per la terapia genica SRP-9003

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How an Ohio Kids' hospital Quitly Became Groung Zero for Gene Therapy

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Distrofia dei cingoli 2E, primi risultati clinici favorevoli per la terapia genica

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Distrofia muscolare dei cingoli, Sarepta decide di acquisire Myonexus

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Clinical Update: Micro-dystrophin Study-101

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Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D  (LGMD2D)

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Myonexus Therapeutics announces accelerated acquisition by Sarepta Therapeutics.

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Clinical upadate: Myo-101 for LGMD type 2E

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Myonexus Therapeutics recieves orphan drug designation for Myo-102

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Myonexus Therapeutics announced the initiation of a trial for the first-ever Gene Therapy for  Beta-Sarcoglycanopathy

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MDA Funds Creation of Limb-Girdle Muscular Dystrophy Clinical Research Network to Speed Therapy Development

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Atrofia Muscolare Spinale: a luglio avvio in Italia sperimentazione di terapia genica.


Positive preliminary results from the first three children dosed in phase 1/2A gene Therapy micro-dystrophin trial


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Myonexus  Therapeutics receives  FDA  Rare Pediatric Disease Designation


Sarepta Therapeutics Announces Partnership with Myonexus Therapeutics for the Advancement of Multiple Gene Therapy Programs Aimed at Treating Distinct Forms of Limb-Girdle Muscular Dystrophies


Myonexus Therapeutics receives FDA orphan drug designation for LGMD type 2E treatment

Pioneering, corrective gene therapies have potential to transform quality of life


Limb Girdle Muscular Dystrophy Type 2E Recruitment Study


MDA Clinical Conference Keynote Adress by Dr. Jerry Mendell - March 2018


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How Myonexus Therapeutics is developing the first treatment for Limb Girdle Muscular Dystrophies


Young Boy Becomes First DMD Patient to Receive Investigational Systemic Microdystrophin Gene Therapy


First Duchenne Patient Dosed in Microdystrophin Gene Therapy!


Myonexus Therapeutics Secures $ 2,5 Million Seed Financing to Clinically Advance Limb-Girdle Muscular Dystrophy (LGMD) Gene Theraphies


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Sarepta & Nationwide Announce FDA Clearance of IND for Micro-Dystrophin Gene Therapy Program for the Treatment of Duchenne


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Gene Therapy Continues to Show Promise for Limb-Girdle Muscular Dystrophy


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Myonexus Therapeutics, Inc. Launches to Develop Pioneering, Clinical-Stage Gene Therapies Targeting Limb-Girdle Muscular Dystrophies


Myonexus Launches Development of Gene Therapies Targeting Limb-Girdle MD


AveXis Receives FDA Breakthrough Therapy Designation for AVXS-101 (Gene Therapy) for SMA

New Gene Therapy Results Announced at World Muscle Congress


Good news from the second patients treated in Columbus with the gen therapy into the legs.



Clinical trial for Max

Dr. Jerry Mendell discusses Gene Therapy. Dr. Jerry Mendell shares his experiences from a decade of research and the challenges in developing gene therapy for muscular dystrophy at the Jain Foundation USA patient conference.


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AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models;jsessionid=C126B52A2B26047B