Clinical Studies and Trials for LGMD2B/Miyoshi Myopathy/Dysferlinopathy Patients

rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies

Status: Currently recruiting individuals with genetically confirmed LGMD2B/Miyoshi/Dysferlinopathy

 

 

Click here for information about the gene therapy trial and how to participant.

 

This first phase of the trial is small and evaluates mainly safety; patients enrolled are not expected to show improvement in their symptoms.  If the initial trial is successful, we anticipate that a Phase 2 trial will be scheduled, which will look for efficacy (improvement in symptoms) as well as safety. Each phase would include more patients. So, it is a process and we are pacing ourselves as we support this major milestone in the field of therapeutic intervention for people suffering from dysferlinopathy.  

 

The current gene therapy study is being done by Dr. Jerry Mendell at Nationwide Children's Hospital in Columbus, OH.

 

Below is a quick summary of the inclusion/exclusion criteria.  Please review this information carefully prior to making any decision regarding participating.

Inclusion Criteria:

  • Must be Non-ambulant (cannot walk 10 meters in ≤ 30 sec) and age 18 years or older
  • Established mutations of the dysferlin gene on both alleles
  • Impaired muscle function but with sufficient muscle preservation to ensure muscle transfection based on magnetic resonance image of the EDB showing sufficient muscle preservation to permit transfection
  • Willingness of sexually active subjects with reproductive capacity to practice reliable method of contraception (If appropriate), during the first six months after gene transfer (females) or until two negative sperm samples are obtained post gene transfer (males).

Exclusion Criteria:

  • Active viral infection based on clinical observations or serological evidence of HIV, or Hepatitis A, B or C infection
  • The presence of dysferlin mutations without weakness or loss of function
  • Symptoms or signs of cardiomyopathy, including:
  • Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs
  • Echocardiogram with ejection fraction below 40%
  • Diagnosis of (or ongoing treatment for) an autoimmune disease
  • Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count < 1.5K/µL
  • Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer
  • Pregnancy
  • AAVrh74 or AAV8 binding antibody titers > 1:50 as determined by ELISA immunoassay
  • Abnormal laboratory values in the clinically significant range in the table below, based upon normal values in the Nationwide Children's Hospital Laboratory: GGT, Total Bilirubin, Cystatine, Hemoglobin, White Blood Cells

 

This first phase of the trial will be small and will only evaluate safety; patients enrolled are not expected to show improvement in their symptoms.  If the initial trial is successful, a Phase 2 trial will be scheduled, which will look for efficacy (improvement in symptoms) as well as safety. Each phase would include more patients. So, it is a process and we are pacing ourselves as we support this major milestone in the field of therapeutic intervention for people suffering from dysferlinopathy.

 

The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies (FSHD)

 

Status: This study is completed

 

 

Click here for more information about this study

 

Pharmaceutical company aTyr Pharma, Inc. sponsored a clinical trial in LGMD2B (dysferlinopathy) and Facioscapulohumeral MD (FSHD).  This study was a combination of Phase 1 (safety) and Phase 2 (safety and efficacy) and tests various doses of ATYR1940, also known as Resolaris.  Information about the results of this study can be found here:  http://investors.atyrpharma.com/news-releases/news-release-details/atyr-pharma-reports-promising-signals-clinical-activity-multiple

 

This prospective treatment was developed by aTyr, Inc. independently of the Jain Foundation's research program, and was initially targeted at FSHD.  When the company chose dysferlinopathy as a second disease for clinical trials they contacted the Jain Foundation and their leadership team visited the Jain Foundation offices in Seattle.  The company has begun forging a relationship with the Jain Foundation.   

 

It is important to note that ATYR1940 does not target the underlying genetic mutations in LGMD2B or FSHD, but seeks to modify the involvement of the immune system, which is believed to play a significant role in the disease process in both types of muscular dystrophy. Further information on the drug is given on the company’s website:  http://www.atyrpharma.com/physiocrines/ or http://www.atyrpharma.com/programs/resolaris/

 

 

If you would like to get more information about this study please contact aTyr Pharma by email at clinicaltrials@atyrpharma.com or phone at 1-877-215-5731.


Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

 

Status: Currently recruiting LGMD 2B, 2C, 2D, 2E, 2F, 2I, 2L, Miyoshi Myopathy, BMD

 

 

Click here for more information about this study and about how to sign up.  You can also find information about this study by downloading the study leaflet here.

 

Click here to read about patient experiences in the study.

 

Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects the ability of muscles to contract and relax, which causes movement problems. Researchers are looking at several muscle molecules that are released from fragile muscle membranes. By studying changes in the blood levels of these molecules, they may be able to better understand how muscular dystrophy progresses. Researchers want to collect biomarkers (molecules from blood samples) from people with one of the fragile sarcolemmal muscular dystrophies (FSMDs). This information may provide new insights into the progression of an FSMD. 

 

To be eligible for participation, patients must have a confirmed genetic diagnosis of one of the FSMDs, which includes LGMD 2B, 2C, 2D, 2E, 2F, 2I, 2L, Miyoshi Myopathy and BMD. If you do not have a genetic diagnosis, the Jain Foundation can help. Please contact Sarah Shira and the Jain Foundation can provide guidance and support to help you obtain a diagnosis at the genetic level.  In addition, individuals must be at least 18 years of age and be able to walk 33 feet without walking aids. The study consists of four 5-day stays at the National Institutes of Health in Bethesda, MD spaced about 3 months apart. During the study, patients will provide frequent small blood samples collected while at rest and after physical exercise. Participants will also have a physical therapy assessment. No treatments are provided as part of this study.  All study-related tests are provided at no cost to you.

 

If you would like to get more information about his study and/or are interested in participating, please email Ivonne Morales at moralesbenaviij@mail.nih.gov or contact Dr. Joshua Zimmerberg by email at zimmerbj@mail.nih.gov or by phone (301) 496-6571.


 

 

Limb Girdle Muscular Dystrophy (LGMD) Natural History

 

Status: This study is completed


 

Click here for more information about this study

 

Study Description:

The purpose of this study was to understand more about limb-girdle muscular dystrophy. Therefore, the investigators tracked the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life questionnaires, muscle strength, motor function, routine examination, assessment of patient (or parent) understanding of LGMD, and serum (blood) for growth factors, cytokines, and biomarkers (all parts of your blood). By tracking this information, they hoped to be able to understand more about the diagnosis, progression and natural history of this disorder.


International Clinical Outcome Study for Dysferlinopathy

 

Status: This study is ongoing, but not recruiting participants.

 

   

Click Here for more information about this study.

 

This study is being sponsored by the Jain Foundation. The goal of the study is to define the natural progression of dysferlinopathy (LGMD2B/Miyoshi) in a large group of genetically confirmed patients and study a selection of possible outcome measures for use in future treatment trials. Please note: Genetic confirmation of your diagnosis is required for participation. If you do not have a genetic diagnosis, the Jain Foundation can help. Please contact Sarah Shira and the Jain Foundation can provide guidance and support to help you obtain a diagnosis at the genetic level.


The results of this study will provide us with a better understanding of the clinical aspects of dysferlinopathy and identify the best outcome measures to test the efficacy of potential therapies in future clinical trials.