Clinical Trials

Dear Patients,

Below is a list of ongoing clinical trials that are relevant to LGMD2B/Miyoshi. As you will notice, only a few of the trials are recruiting LGMD2B/Miyoshi patients, while most of them are directed towards other forms of muscular dystrophy (for example – Duchenne muscular dystrophy - DMD). It is also important to realize that not all clinical trials are designed to test a potential treatment. Some clinical trials are done to study clinical aspects of the disease which can be equally important. Regardless of the disease being studied or the reason for the trial, the information gained from any of the trials listed below could directly impact the progress towards a treatment trial for LGMD2B/Miyoshi.

The goal of the Jain Foundation is to expedite and plan for clinical trials for LGMD2B/Miyoshi today so that we can initiate these as soon as possible, if we hear promising results from any of the trials below.

There are two essential steps in preparing for LGMD2B/Miyoshi specific trials:
  1. Conduct all background experiments in animal models to identify therapeutic approaches and test their safety.
  2. Identify patients with dysferlin mutations so that any identified therapeutic approach can be tested in patients confirmed for dysferlinopathy.
Rest assured that we are doing what we can to further the first step. In addition to funding scientific research projects related to the trials below, we are also funding research that will lead us to other strategies to combat dysferlinopathy.

The second step we cannot do without your help. LGMD2B/Miyoshi is a very rare disease, so finding enough patients with appropriate dysferlin mutations within this small group is next to impossible without your help. You can help by doing the following:
  • Register with the Jain Foundation patient registry. This will help us confirm your diagnosis and contact you when relevant clinical trials are available. Register by clicking here.
  • Confirm your diagnosis by identifying your dysferlin gene mutations. The identification of dysferlin mutations is the only way to definitively confirm your LGMD2B/Miyoshi diagnosis and will be required for inclusion in most clinical trials. The Jain Foundation can help you obtain dysferlin mutational analysis (for more information click here).
  • Tell everyone you know with LGMD2B/Miyoshi about the Jain Foundation.
Let's work together to find a cure for this disease.

Sincerely,

Plavi Mittal
President, Jain Foundation Inc.



Clinical trials recruiting LGMD2B/Miyoshi patients

  • Evaluation of Limb-Girdle Muscular Dystrophy
    http://www.clinicaltrials.gov/ct2/show/NCT00893334

    This study is recruiting the following types of patients: LGMD2B/Miyoshi, LGMD2A, LGMD2I, and BMD. The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It consists of a one day clinical evaluation that involves strength and muscle functional testing, various other clinical tests, and two blood draws. Please note: Genetic confirmation of your diagnosis is required for participation.

    The results of this study could increase our understanding what is going on molecularly in LGMD2B/Miyoshi and identify possible outcome measures that could be used in future clinical trials.


  • Dysferlinopathy disease progression study
    Coming soon - Patient recruitment starting early 2012

    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.

    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.


Clinical trials for other types of muscular dystrophy patients that could be relevant to LGMD2B/Miyoshi

  • Study of Ataluren (PTC124) for previously treated patients with nmDBMD in the US
    http://www.clinicaltrials.gov/ct2/show/NCT01247207

    This study is being conducted by PTC Therapeutics (http://www.ptcbio.com/3.1.1_genetic_disorders.aspx) 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.


  • Study of ACE-031 in Subjects with Duchenne Muscular Dystrophy
    http://www.clinicaltrials.gov/ct2/show/NCT01099761

    This study was being conducted by Acceleron Pharma (http://www.acceleronpharma.com/content/products/ace-031.jsp) in DMD patients, but has been terminated due to preliminary safety data. The purpose of this study was to determine whether ACE-031 is safe and well-tolerated in children with DMD and to select the optimal doses of ACE-031 in terms of safety and pharmacodynamic (PD) activity for designing future studies.

    This therapy attempts to increase regeneration of muscle by blocking a protein called the ActRIIB receptor. When bound by particular molecules, the ActRIIB receptor normally transmits an “off” signal to stop muscle production. ACE-031 promotes muscle growth by inhibiting this “off” signal, which allows the muscle to grow. While this treatment will not affect the underlying cause of the muscular dystrophy, the hope is that by increasing muscle growth, you can make more muscle than you are losing and thereby maintain function. The Jain Foundation is currently funding a project (click here for details) to test the effects of increasing muscle growth via inhibition of ActRIIB signaling and other factors on dysferlinopathy mice to see if this could be a possible therapy for dysferlinopathy patients


  • Gene Transfer Therapy for Treating Children and Adults with LGMD2D
    http://www.clinicaltrials.gov/ct2/show/NCT00494195

    This study is currently only recruiting LGMD2D (caused by mutation in alpha sarcoglycan) patients. The purpose of this study is to evaluate the safety and effectiveness of gene therapy in treating patients with LGMD2D.

    Gene therapy also holds promise for the treatment of LGMD2B/Miyoshi patients. However, there are a number of dysferlin specific hurdles that need to be addressed before gene therapy could be an option. The Jain Foundation is currently funding two gene therapy projects that explore technologies to improve the efficiency of gene delivery (click here and here for details), which will help expedite the development of gene therapy for LGMD2B/Miyoshi. We plan to fund a clinical trial for LGMD2B/Miyoshi patients when the technique is ready.


  • Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy
    http://www.clinicaltrials.gov/ct2/show/NCT00873782

    This study is currently recruiting various types of muscular dystrophy patients which include LGMD2B/Miyoshi patients. The goal of the study is to test the safety and feasibility of limb perfusion as a delivery method for gene therapy.

    The genetic basis of many types of muscular dystrophies is well defined, which makes gene therapy a potential treatment option in the future. A key step to the development of gene therapy as a viable treatment option involves the identification of a safe and effective way of delivering the genetic material to the muscle. High pressure, high-volume transvenous limb perfusion has shown the greatest potential as a delivery method to date.