Developing PMD therapies and treatments and proving that they work requires documented evidence of how different PMD genetic defects affect the central nervous system and body over time. Accurately recording this information for a statistically significant number of PMD families and affected children (in a Patient Registry) is critically important to all forms of treatment research.
Many of you have responded to the PMD Foundation request to update your contact information with the names and birthdates of your PMD affected children. Many have included the formal agreement for the PMD Foundation to contact you about PMD research opportunities and (when it becomes time) to participate in building the first PMD Patient Registry. If you haven’t already done so, please reply soon.
Dr. Adeline Vanderver is a neurologist and clinician at Children’s National Medical Center in Washington, DC. She specializes in Leukodystrophies and she collaborated with Dr. Garbern. Dr. Vanderver started a Leukodystrophy Patient Registry and Sample Repository to support her research work 10 years ago. She has agreed to work with the PMD community to include as many PMD Families and children as are willing to participate for research. Within the next several months, we will provide information about participating to all who have agreed.
Dr John Kamholz (a member of the PMD Foundation’s Scientific Advisory Committee) is directing two PMD studies at Wayne State Medical Center in Detroit, Michigan. Dr Kamholz provided the following description of each study with specific patient qualifications and contact information for those at Wayne State University. Conducting and documenting the results of studies such as these is important to the future development of potential treatments and evaluating the benefits and risks. If you are interested in participating in either or both of these studies, then I encourage you to contact Dr. Kamholz for further information.
PMD Foundation, Board Chair