NTSAD recognizes the URGENCY families have and the frustration that we aren’t yet in a clinical trial for our diseases, in this instance, Canavan.  Here are a few things we want to clarify about what happened (as far as we know), our limited role, and where we hope to go from here.

Expanded access:  This is a complicated, always evolving, topic. Expanded access is now a preferred term for compassionate use and is a single-patient process. More than one patient can use an investigational drug via expanded access, but each patient/physician group must apply to the FDA. It is not a clinical trial. There are no specific numbers of patients associated with it. There are often limits to the amount of drug available, which is one of the limiting factors of expanded use.  Note that there are risks to expanded access use for the researcher/company and the patient population. A serious complication in using a drug through expanded access could delay future trials or shut down the entire research program.

This FDA link explains the terminology about how Expanded Access works.  It does not use an FDA-approved treatment.  The web site states, “Wherever possible, use of an investigational medical product by a patient as part of a clinical trial is preferable because clinical trials can generate data that may lead to the approval of products and, consequently, to wider availability.”  As a patient advocacy organization, NTSAD’s goal is to partner with families, researchers, and companies to pursue a clinical trial so that there will be wider availability of any treatment. 

Yes, in this case, it appears that an agreement was worked out between a researcher and a clinician and their respective institutions along with the FDA to treat a single child by expanded access.  The institutions and family worked out this arrangement without NTSAD’s involvement. Yes, this family raised the money needed for this expanded access treatment.  They understandably desired privacy, which we respect.  In learning of this child’s treatment, our role is to follow-up with investigators and institutions to see how we can bring this treatment to a sponsored clinical trial (in which all costs are paid for by the sponsor), and therefore to families at large. That is happening now.

NTSAD’s role in funding Canavan gene therapy / all research:  NTSAD funds research in a competitive process with scientific reviews.  We invite researchers to our conference to share updates about the research.  Dr. Gao received a $40,000 NTSAD Research Initiative grant in 2011.  NTSAD has reported on the results of that grant and have periodically shared updates based on publications about the gene therapy.  Our role is not to spend funds for one specific patient nor to encourage treatment for one specific patient, but to encourage progress (which requires a clinical trial) for all patients. Both Dr. Gao and Dr. Gessler have attended many conferences, shared data in the research sessions, and talked at length with families about their ongoing work.

NTSAD’s role in making information available to the patient community: NTSAD’s role is to be a trusted partner for families, scientists, clinicians, and companies so that we can help advance research to treatments.  The ways we help advance research are funding, learning about the disease through direct contact with families, sharing knowledge about the disease, developing ways to gather information about our diseases, and connecting with our network.  Transparency is not the same as sharing everything we know as soon as we know it. NTSAD is sometimes asked to sign confidentiality agreements with companies or researchers.  If we want anyone to work with us, we must respect these arrangements.

If you have further questions or need further clarification, we hope you reach out. Especially if you see something posted that may not be accurate or is confusing. We are here to help decipher the news that is shared related to the diseases that impact our community, and we have the researchers and clinicians who are experts in their field who advise us on a daily basis.

Feel free to contact Sue Kahn, Executive Director This email address is being protected from spambots. You need JavaScript enabled to view it. or Diana Pangonis, Director of Family Services This email address is being protected from spambots. You need JavaScript enabled to view it..