Relevant Clinical Studies and Trials for Other Muscular Dystrophies

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 and about how to sign up. 

 

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.

 

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.


Study of Ataluren (PTC124) for previously treated patients with nmDBMD in the US, Europe, Israel, Australia, and Canada

 

Status: Currently recruiting DMD and BMD patients by invitation only

 

   

Click Here for more information about the study for US patients

Click Here for more information about the study for patients outside the US

 

http://www.jain-foundation.org/patient-physician-resources/clinical-stud...

This study is being conducted by PTC Therapeutics and is currently only recruiting DMD or BMD patients with nonsense mutations who previously participated in a study testing Ataluren. This study is a phase 3 clinical trial to evaluate the long-term safety of Ataluren. PTC is also testing Ataluren in patients with Cystic Fibrosis, Hemophilia A and B, and Methylmalonic Acidemia.

 
Ataluren holds promise for LGM2B/Miyoshi patients who have a stop mutation in at least one copy of their dysferlin gene. The drug works by "skipping" over the faulty stop in the gene, enabling the protein to be made. At the moment, it is difficult to analyze how effective this therapy will be for LGMD2B/Miyoshi, but we are keeping a close eye on what is happening with this drug.


 


Congenital Muscle Disease Study of Patient and Family Reported Medical Information (CMDPROS)

 

Status: Currently recruiting participants

 

 

Click Here for more information about this study or contact Rachel Alvarez at counselor@cmdir.org.

 

Study Description:

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). The CMDIR registers individuals with congenital muscular dystrophy, congenital myopathy and extends to the limb girdle and late onset spectrum for both disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The registry includes demographic, disease specific and diagnostic questions. Key care parameters are surveyed longitudinally by proxy and/or patient report, confirmed by medical records. Genetic reports are curated by a board certified genetic counselor with support provided to families to pursue molecular confirmation through referrals to national centers of excellence.

 

Study hypothesis:

  1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases.
  2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

Participants in CMDPROS will be selected from the CMD International Registry (CMDIR) and currently include patients and families with congenital muscle disease from 25 countries.


 


Clinical Trial Readiness for the Dystroglycanopathies

 

Status: Currently recruiting participants

 

   

Click Here for more information about this study or contact Carrie Stephan at (319) 356-2673. 

 

Study Description:

The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials.

 

Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct the body to make certain kinds of proteins.

 

In this study, researchers will examine the clinical presentation of muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan. Patients with dystroglycanopathies could have mutations in one of the following genes: FKRP, fukutin, POMT1, POMT2, POMGnT1 or LARGE. Symptoms range from congenital muscular dystrophy that can also involve the brain and eye, through an adult-onset limb girdle muscular dystrophy.

 

The study involves a clinical evaluation at the University of Iowa. The evaluation includes muscle strength and motor ability testing, lung function testing, quality of life and activity assessment, and a review of past medical history. Portions of this evaluation will be repeated on a yearly basis. Financial assistance is available for travel to Iowa City. Support is also available for genetic testing for people with a dystroglycanopathy diagnosis based on muscle or skin biopsy analysis.

Knowledge gained from this study will improve healthcare recommendations for people with dystroglycanopathies, and provide a baseline for further study, including potential treatment options.