January 6 2010
Dr. Jim Collins at Cincinnati Children’s Hospital Medical Center (CCHMC) will launch a 1 year trial, Jan/2010- Dec/2010, to identify biomarkers in Merosin Deficient CMD (MDC1A). Dr. Collins and Dr. Carsten Bonnemann at the Children’s Hospital of Philadelphia (CHOP) will enroll infants and children, 0-10 years, with Merosin Deficient CMD.
Contact: Shengyong Hu or Paula Morehart (Division of Neurology, Cincinnati Children’s Hospital Medical Center)
Phone: 513-636-3202 or 513-636-7451
Email: shengyong.hu@cchmc.org
Cure CMD would like to inform you of an important upcoming Merosin Deficient CMD clinical study with a start date of Feb 1st, 2010.
What is the purpose of the study?
The goal of the study is to find a marker of disease (biomarker) in the blood or urine.
Why is it important to have a biomarker specific to MDC1A?
A biomarker is a critical tool to make clinical trials in MDC1A a reality. A biomarker will allow a clinical trial expert to determine if a drug is having a positive effect on improving disease.
How will an MDC1A biomarker provide useful information?
Merosin deficient CMD (MDC1A) is a slowly progressive disease. Clinical trials are expensive. Trials typically run for less than 18 months. It can be difficult to see a “positive” drug effect that produces subtle but important changes on an affected child’s functional abilities. Furthermore, each enrolled child with Merosin Deficient CMD may have slightly different functional abilities at the beginning of a clinical trial. A biomarker can level the playing field and allow a clinical trial expert to determine how a drug is affecting each child based upon changes in that child’s biomarker levels over the course of the trial. Given the limited number of children with MDC1A who can participate in future clinical trials, it is critically important to identify objective changes and increase the sensitivity and power of a study.
How have biomarkers been used in prior neuromuscular clinical trials?
In the current Ataluren trial (PTC Therapeutics) in Duchenne muscular dystrophy, a drug effect was measured by testing enrolled boys’:
a. Pulmonary function (outcome measure)
b. Ability to walk (outcome measure) using the 6 min Walk Test
c. Blood work (no proven Duchenne biomarker)
d. Serial punch muscle biopsies (the gold standard biomarker).
Why is it important to enroll infants in this study?
Merosin deficient CMD has a typical course. Within the first 0-2 years, an affected infant’s muscles show strong inflammation and breakdown. After 3 years of age, the muscle disease tends to stabilize. Disease biomarkers may change significantly between the 0-2 and 3-10 year window.
One of the important goals of Dr. Collins’ study is to use the expert resources at CCHMC to identify biomarkers in Merosin Deficient CMD in blood or urine which would potentially reduce the need for serial muscle biopsies in future MDC1A clinical trials. Based upon the results of this pilot study, Dr. Collins plans to submit an NIH grant application to request funds to expand the current study.
In order for this pilot study to be successful, Dr. Collins needs to enroll 14 children between the ages of 0-10 years with MDC1A between February and June 2010. There are a limited number of children with MDC1A who fall within this age range within the United States.
Participating in a clinical trial is a parent and child’s individual and confidential choice. Your and your child’s decision regarding participation will neither be known to Cure CMD or the CMD community.
Your child’s participation in this study would involve a half day visit to either CCHMC or CHOP, an evaluation by Dr. Collins or Dr. Bonnemann respectively, a blood draw (2 test tubes) and a urine specimen. Travel reimbursement will be discussed on a case by case basis for one parent and the affected child for out of state travel.
Cure CMD supports CMD biomarker research as an important step in launching successful CMD clinical trials. Dr. Collins’ grant was funded by a partnership between Cure CMD and S.A.M. Travel reimbursements have been funded through CCHMC.
