The Neuronal Ceroid Lipofuscinoses Research Alliance (NCLRA) is
a united group of foundations whose purpose is to aid in the coordination
of bringing potential therapies to clinical trials for the three
major forms of NCL (CLN1, CLN2, CLN3). The goal of this organization
is to assist in the collaboration of researchers and aggressively
assist science to develop a therapy for the NCLs. Phil Milto is
a lead member of this group directing the efforts of the CLN2 research,
Nathan's version of the disease, to progress to a clinical trial
The NCLRA conducted a conference hosted at the National Institutes of Health, Bethesda, Maryland on May
11, 2000 and May 12, 2000. This conference was tremendously productive in fostering collaboration and
propelling research toward a clinical trial for CLN1/CLN2. The "Clinical Trial Initiative Conference"
was the first of its kind. Never before had a group been assembled that contained competing biotech
companies, research scientist, clinicians, a neuro-surgeon, universities, clinical centers, the FDA, the
NIH, and a parent group (the NCLRA). The success of the meeting was mainly due to the open
collaboration between each party interested in achieving a common goal, a treatment for CLN1/CLN2
children. This meeting was organized and conducted by the NCLRA
Conference Accomplishments and Notable information:
Informed that a biotech company is pro-actively pursuing developing therapies for metabolic diseases of the nervous system.
Information presented that displayed the reversal of damage in the CNS after receiving gene transfer in a LSD. Recovery of functional deficits presented.
||Informed moderately to severely effected patients should be included in NCL clinical trials in order to more easily determine therapeutic benefit of a treatment. This is especially relevant with NCL disorders due to the markers for the trial will be heavily weighted on clinical review.
||Confirmed that a mouse model is not necessary or required by the FDA to proceed.
||Generated pharmaceutical interest in therapeutic approaches to treat CLN1
and CLN2 through open collaboration with researchers in the field.
||Established open lines of communications between attendees
||Key attendees: Avigen, Cell Genesys, Genzyme, Iowa University, Targeted
Genetics, University of Minnesota, Peter Lobel, Jon Cooper, Mark Sands, FDA, NIH, NCLRA, and BDSRA.
||Confirmed the need to identify markers and endpoints (gather clinical
histories, imaging technology, obtain quantitative measures).
||Confirmed need to quickly establish a clinical center.
||Obtained an understanding from the FDA to keep them involved as early and
as often as possible in the IND development process.
||Obtained scientific updates from NCL researchers, providing
disease specific information and data to company representatives.
||Obtained research and development updates from leaders in the fields of
ERT and gene therapy.
||Confirmed need to lobby government to show support of gene and
stem cell therapy.
||Identified potential roles of attendees in the strategic development of
initiating a clinical trial.
* A conference summary is available "Clinical Trial Initiative".
In November 1999 the "Action For Therapy" conference was held with the leading researchers on Batten
disease at the National Institute for Health (Conference Summary) . The objective of the conference was
to get viable therapies to clinical trials as quickly as possible. Each researcher presented their
latest findings. By getting the researchers to work together and understanding what obstacles that they
are facing, hopefully we can get their obstacles addressed so a treatment can be developed. A
representative from the FDA was also present to assist us in understanding the steps necessary for us to
get a treatment to clinical trial. The most viable option for Nathan is Gene therapy.
Gene therapy is a cure for Nathan. A virus (AAV virus) is injected into the brain that infects the
neurons. This virus will have corrected genes attached to them to produce the enzyme in which Nathan is
deficient. We believe that we have all the components necessary to go forward with a clinical trial and
have begun compiling the proper paper work for submission to the FDA. We potentially have the cure for
Nathan. We just have to get it through to a clinical trial. The non-science factors currently stand
in our way. We have some obstacles in our way, the current known obstacles for a gene therapy clinical
We do not have sponsor for our trial. A sponsor is typically a biotech company who ensures that the
clinical trial is being performed according to the protocols defined in the Investigational New Drug
application. By definition, a sponsor is an individual, partnership, corporation, scientific
institution, or governmental agency. The FDA would rather have a company be the sponsor of the drug.
It doesn't mean that we cannot be creative. I have developed a business plan (Business Plan)
outlining the tremendous financial returns that could potentially be gained to try to attract companies
to be the sponsor for this clinical trial. So if you know anyone interested please have them contact
We need a "Good Manufacturing Practices" facility to produce clinical grade virus vector for us to be
used in the toxicity testing and in the clinical trial.
We need to get a hospital to host our clinical trial as the center for the inter cranial injections and
clinical evaluations. Stanford has tentatively committed to be a potential site but the FDA would like
for us to have at least two sites to eliminate any bias in the test results.
We will also need clinicians to participate in our trial. This would typically be a neurologist with
preferably, but not necessarily, Batten's experience.
Again if you know anyone involved in these fields (enzyme replacement, gene therapy, stem cell therapy,
Neurotrophic factors) or a biotech company that will sponsor our clinical trial or produce clinical
grade virus forward Nathan's story to them and their name to me. Any connections we have will help push
research forward. At this point who you know makes a huge difference. Remember we are all just six
people from everyone.
© 2001 Nathan's Battle Foundation | All Rights Reserved