The team @ RCH have been extremely busy working on exciting new projects for neuromuscular patients.
CINRG research:

  • The Prednisone (high-dose vs daily) in Duchene muscular dystrophy study has now been completed. All parents and participants will shortly receive information from the team regarding the results of the study’s findings. Study results will also soon become published and available from the CINRG team in Washington DC.
  • The UCD (University of California, Davis campus) Longitudinal study of the relationship between impairment, activity limitation, participation and quality of life in persons with confirmed Duchenne muscular dystrophy.

This study is in its ninth month and running fantastically. We have around 15 boys participating and are currently seeking boys aged 2, 3, 6, 7, 9, 13-18 who are interested in participating. This is a five year study collecting information from boys and men with DMD and their families. Information to be collected will include studies of patient’s physical abilities, medical problems and use of healthcare services. A second goal is to look for an association between modifying genes (which contain instructions for how the body works) and response to treatment of DMD.  Participants in this study will undergo strength and lung function testing at variable intervals during the 5 year study.

  • Clinical trial of coenzymeQ10 and prednisone in Duchenne muscular dystrophy. A hold has currently been placed on this study. The CINRG team in Washington DC has decided to review this study and is currently working hard at improving it for all participants. Unfortunately there is no estimated date at this stage on when this information will be available.

 PTC THERAPEUTICS

We will be starting a new study in patients with nonsense mutations within the next few months. This study will look at the effectiveness of PTC 124 in patients with nonsense-mutation-mediated Duchenne & Becker muscular dystrophy . PTC 124 is an orally administered drug that targets nonsense mutations, hopefully making it possible for the body to produce more dystrophin and increasing muscle strength.

Boys who are eligible to be included to participate in the study must be males aged over 5 years old with either DMD or BMD (this includes adults with BMD).
They must be able to walk unassisted for greater than 75 meters in 6 minutes or less.
It is also vital that they have documented nonsense (point) mutation in the dystrophin gene as determined by gene sequencing from an accredited laboratory.

Unfortunately, boys who are not eligible to participate in the study include those who

  • Have had treatment with a systemic aminoglycoside (type of antibiotic) or  any change of treatment for congestive heart failure within 3 months prior to starting the trial;
  • Commenced corticosteroid treatment within 6 months or changed steroid does within 3 months;
  • Due to have major surgery (including scoliosis surgery) within 12 months;
  • Has daytime ventilator assistance

This is a 12 month study that has a fairly demanding schedule involving lab vists, a muscle biopsy pre and post study and 12 2-day visits for the whole 12 month period.

There are several sites around the world also completing the study with only 155 spots open for participants.

If you are interested in obtaining any further information regarding this clinical trial or any of the above studies please feel free to contact Daniella Villano, MDA Neuromuscular Clinical Nurse Coordinator on either 03 9345 4633 or daniella.villano@rch.org.au or Dr. Monique Ryan & A/Prof Andrew Kornberg on 03 9345 5641.

 MDA NEUROMUSCULAR CLINIC
Thanks to the wonderful support from the MDA, the MDA Neuromuscular Clinic is up to its sixth clinic. So far around 70 patients have visited our clinic, seeing over 13 different specialties. Families have loved coming into our clinic and having all of their appointments sorted out in one afternoon.

To enquire about making an appointment in the MDA Neuromuscular Clinic please feel free to contact Daniella Villano, MDA Neuromuscular Clinical Nurse Coordinator on either 03 9345 4633 or daniella.villano@rch.org.au