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Project Cure SMA is a collaborative initiative between Families of SMA and clinical investigators designed to help facilitate the rapid translation of promising new therapies to individuals with SMA. The primary goal of Project Cure SMA is to develop safe and well-tolerated clinical protocols to help identify effective therapies for SMA.

Project Cure SMA - Update September 24, 2004

Project Cure SMA is an initiative Families of SMA began funding in 2000 to determine  reliable methods of measuring strength, motor function, pulmonary function and other measures, which contribute to the health of motor neurons in children with SMA. In addition, Project Cure is creating safe and effective process for identifying and testing drugs. The Project Cure SMA team is in the process of writing the study protocol for Phase II trials expected to be submitted for IRB approval at each individual institution by January 2005.

The Project Cure SMA team members are: Drs. Sandra Reyna, Project Cure SMA Clinical Trials Manager; Project Cure SMA Team Investigators: Drs. Gyula Acsadi,Thomas Crawford, Guy D’Anjou, Richard Finkel, John Kissel, Mary Schroth, , Louise Simard, Kathryn Swoboda (Principal Investigator); and Project Cure SMA Consultants: Joanne Maczulski, Kristin Krosschell, Charles Scott and Bernie La Salle.

Project Cure SMA is making great progress with SMA clinical trials. The first set of studies follow the natural history of SMA and are aimed at refining outcome measures which will be used in future drug trials. The Salt Lake City site, has collected data on over 100 SMA patients in the past three years of all types from birth to age and ages. They are nearly finished with their part of the natural history study and are in the process analyzing their data and preparing it for publication. Sites at Montreal, Canada, Columbus, Ohio and Baltimore, Maryland are also currently enrolling patients for the natural history study. Both sites are focusing on Type II patients between the ages of 2 and 12. Additionally, the Philadelphia site is open for enrollment and will be focusing their part of the natural history study on Type I children. A site in Madison, Wisconsin will be ready in the very near future.

The next phase of SMA clinical trials is also well underway with two initial drug safety studies on valproic acid (VPA) and sodium phenylbutyrate (PBA). Phase I trials are the earliest type of studies that are carried out in humans. These studies are typically conducted with only a small number of study subjects and are aimed at determining the safety and tolerability of the drug. The Salt Lake City site has enrolled 40 patients from ages 2 to 12 in their VPA trial which consists of three to four study visits over the course of a year. Enrollment for this study is full and is anticipated to be completed by summer of 2005. The PBA study consists of two groups of patients including those who are diagnosed prenatally and those who are diagnosed postnatally. While the postnatal group is full, they have room for a few more prenatally diagnosed subjects. This study is also on target to be completed during the summer of 2005 at which time data from both studies will be analyzed and prepared for publication. Preliminary results indicate that with careful monitoring both VPA and PBA can safely be used in SMA children, though VPA is unsafe for any child under the age of two.

While the focus of these Phase I clinical trials is to determine the safety and tolerability of these medications in SMA children, they are also a valuable source of information as we design and prepare for larger scale efficacy trials. Phase II, or efficacy trials are conducted in order to determine the best possible dosing for a study medication and to continue to ensure and monitor safety. The Project Cure SMA team is in the process of writing the study protocol for Phase II trials which should be ready to submit for IRB approval at each individual institution no later than January 2005. Enrollment at all six sites should begin early next year.

The members of the Neuromuscular Diseases Program at Marie-Enfant Hospital are proud to be participating in Project Cure SMA.

Project Cure SMA is a multi-centre study involving four sites in the USA and one site in Canada (Montréal). The objective of this study is to evaluate different measurements of SMA. Children participating in Project Cure SMA are seen on three different occasions and each visit is separated by a period of three months. A single visit consists of one evaluation at Sainte-Justine Hospital (SJH) that lasts 1 to 1.5 hours, usually occurring on a Thursday, followed by a second evaluation on Friday that is conducted at Marie-Enfant Readaptation Center (MERC). The second evaluation also takes about 1 to 1.5 hours. The Montreal site conducts the following measurements at the time of each visit.

Participant demonstrating how high he can lift his hands during videotaping

1. A physical therapy session will determine how well your child can sit, roll, lift his/her arms, and stand without assistance. This session is video taped for review by the therapists in the other centres. (MERC)
2. The ulnar nerve is stimulated with a small electric shock at the wrist and the response is measured by wires taped over a muscle in the hand. (SJH)
3. A sample of blood of about 12.5 ml is taken so that we can measure the amount of SMN protein and SMN mRNA. (SMN mRNA is produced by the SMN gene to provide the information necessary to make SMN protein.) (SJH)
4. We have included a session with a respiratory therapist who will obtain standard measures of height, weight, blood pressure, heart rate as well as measurements of pulmonary function such as the size of the biggest possible breath (inhaled and exhaled) measured by breathing into a spirometer. (MERC)
5. Finally, we use the DNA sample (genetic material) that is already available in a molecular diagnostic laboratory to determine the number of copies of the SMN2 gene.

There is no treatment that would cure or even slow down the evolution of SMA at this time. We hope that analysis of the data collected on all our SMA type 2 children will allow us to develop better measurements that can be used in clinical therapeutic trials expected to commence during the winter of 2005.

We have made good progress in this initial study targeting type II children between 2 to 12 years of age. At this time, we have 14 active subjects and 8 children have already completed their 3 visits. We are still recruiting new subjects as our objective is to enrol at least 20 children. Interested families can contact Monique Émond (Pht, M.Sc) (Centre de réadaptation Marie-Enfant de l’Hôpital Ste-Justine), the co-ordinator of this study, at (514) 374-1710 extension 8278. Ms Émond will be happy to answer your questions in either English or French.