Introduction?
Is there any treatment?
Recent and Current Research

Introduction

The BDSRA funds research to find a treatment and ultimately a cure for Batten Disease.  No Government funding is provided and we are trying to fundraise to ensure that many worth research areas continue to be investigated by the scientists.   The BDSRA annually funds these studies and and in some areas, clinical trials are nearing (except where some organisations are self-funded).  Currently, we are raising funds to allow this clinical trial for ………….. become a reality

Is there any treatment?

As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can be reduced or controlled with anti-convulsant drugs, and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy can help patients retain function as long as possible.

Some reports have described a slowing of the disease in children with Batten disease who were treated with vitamin supplements. Attention is being focussed on controlling some of the cell chemistry through dietary trials including fish oils and anti-oxidants. There are other studies also being carried out in the USA, UK, Australia and the Netherlands. However, so far these treatments have not prevented the final outcome of the disease.

Support and understanding can help patients and families cope with the profound disability and loss of cognitive function caused by NCLs. Often, support groups enable affected children, adults, and families to share common concerns and experiences.

Meanwhile, scientists pursue medical research that could someday (hopefully in the near future), yield an effective treatment. More government and public support are needed to provide the resources to help them.

Click here to return to the top of the page

Recent and Current Research

Through the work of several scientific teams in different countries, the search for the genetic cause of NCLs is gathering speed.

We have moved into the next decade of research since the first breakthrough of isolating the infantile gene.

Some scientists are investigating the theory that children with Batten disease have a shortage of a key body enzyme. Investigators are searching for enzymes that might be scarce, defective, or completely missing.

Trials of treatments are a reality …. Stem Cell transplants and Gene Therapy. For more information regarding these trials, please visit the BDSRA, USA via our Contacts page. Both these trials are dependent upon public funding and support.

Many animal models are available to researchers now, such as dogs (used in Australia), cow (used in Australia), sheep (used in New Zealand), fly, worm, fish and of course, mice.

Overall, while many scientists are still trying to discover the whys of Batten Disease, several others are forging ahead developing treatments.

 

Stem Cell research relating to Late Infantile and Infantile forms of Batten Disease

StemCells, Inc. Demonstrates Protection Of Neurological Function In Batten Mouse

Preclinical Proof-of-Concept Data for the Company’s Neural Stem Cells Published in Cell Stem Cell

PALO ALTO, Calif.,
StemCells, Inc. (NASDAQ: STEM) today announced the publication of preclinical data demonstrating for the first time that transplantation of its proprietary, purified human neural stem cells delays the loss of motor function in a mouse model of infantile neuronal ceroid lipofuscinosis (NCL). NCL, commonly referred to as Batten disease, is a fatal neurodegenerative disorder in children. This paper, “Neuroprotection of Host Cells by Human Central Nervous System Stem Cells in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis,” was published online today in the peer-reviewed journal Cell Stem Cell, and will be featured in the September 2009 print edition. To read the entire story, please visit: http://www.stemcellsinc.com/news/090903a.html

Extract from the StemCells, Inc. website.9/09

These are just a handful of the important scientific work that has been supported in 2009:

. J Alfred Rider Memorial Research Award:
Shannon L MacAuley (Mark Sands, PhD) – Washington University in St. Louis
“Activated Astrocytes as Therapuetic Targets in INCL” –This is also a BDSRA Postdoctoral Fellowship

2. Krystyna Wisniewski Memorial Research Award:
Su Xu (Peter Lobel, PhD) – Center for Advanced Medicine and Biotechnology/Rutgers University
“Intrathecal Enzyme Replacement Therapy for LINCL” –This is also a BDSRA Predoctoral Studentship

3. Sandra Hofmann, MD, PhD – University of Texas Southwestern
“Enzyme Replacement Therapy for Palmitoyl Protein Thioesterase Deficiency (INCL)” –The purpose of this study is to develop enzyme replacement therapy for Infantile Batten Disease

4. Anil B. Mukherjee, MD, PhD – NIH/NICHHD
“The development of a treatment strategy for patients with INCL, caused by PPT1 nonsense mutations”

5. Martin L. Katz, PhD – University of Missouri
“A Possible Canine Model for Infantile NCL Therapy Development”

6. Sunita Biswas, PhD – Massachusetts General Hospital, Boston
“Generation of Human NCL iPS cells for study of NCL disease biology” –This is a BDSRA Postdoctoral Fellowship

 

The first formal clinical drug trial specific to the Juvenile form

‘CellCept’ is known for its Organ Transplant use, and there is sufficient Phase I data at this time.  What is needed now is to continue to Phase II of the trial to determine whether it’s safe and tolerable.  It is expected to be a 2 year trial and the total cost is in the vicinity of $900,000 - $1,000,000 to complete due to the number of personnel that is needed.  NOTE that this trial is funded by BDSRA and NINDS and the required amount has not been reached at this point in time. 

 

 

 

 

 

 

 

 

 

Click here to return to the top of the page