Gene therapies have huge potential in the field of rare disease. The fact that these therapies could offer a potential cure otherwise fatal diseases has given families incredible hope. Unfortunately, research for these therapies is extremely expensive due to the small patient populations and it can be difficult to get scientists on board. Families become advocates, fundraisers, and press for the rare disease they’re affected by.
This is the reality for the Landsman family. Rise Landsman has become a huge advocate for her two grandsons named Benny (3) and Josh (2) who are both diagnosed with Canavan disease.
But the family is not just fighting for Benny and Josh anymore. They’re fighting for the global community of Canavan disease patients.
Canavan Disease
Canavan disease is caused by a mutated ASPA gene. This gene is responsible for creating aspartoacylase, which is a critical enzyme. When ASPA activity is not present, N-acetyl-aspartate accumulates in the brain, damaging neurons. Patients fail to reach certain developmental milestones and face intellectual disabilities, seizures, and a decline in mobility. Most children diagnosed with Canavan disease don’t live past age 10.
For Canavan disease, a research team is already well on their way to investigating gene therapy. This study is being lead by doctor Paola Leone. She has been working on gene therapy for the condition for over 20 years. Her primary goal has been trying to find a safer way to introduce the new genes to the patients, after seeing a 1999 study fail to deliver the expected results. The patients in the 1999 gene therapy investigation did experience some improvements but they were not cured of the condition.
This new study is based at Rowan University and necessitates 1 million in funding this month and 1.5 million by the end of December 2019 in order to continue. Why its it so expensive? It’s because this research its being completed by a small group of passionate scientists who have no federal funding and minimal resources to complete the investigation. But what they do have his knowledge, expertise, and a willingness to fight.
Likewise, these families affected by the condition, like the Landsmans, are determined to make sure the study goes through.
The Landsmans
Benny is the older of the two boys and unfortunately, his symptoms are more severe because the family was unaware he had the disease for the first 6 months of his life. Josh on the other hand was given his diagnosis soon after birth. It is known that breast milk contains the missing enzyme so Josh was exclusively breast fed knowing his diagnosis.
Benny is unable to communicate and lives with a feeding tube. He cannot sit or stand on his own. However, despite it all his family describes him as a very happy boy. He has already started school and his grandmother reports that he is doing well.
Josh is able to sit and hold up his own head. He even reaches for things and engages with the environment he is in.
The family also has a baby boy named Evan, just a few months old, who does not have the condition.
Knowing how difficult it is to get one child into a trial, the family was stressed, wondering how they were going to get both of their boys involved. They went straight to Dr. Leone, asking her to expand the study to a group of children. The request was filled.
With a team of patients and families on board, the fundraising process began. Families from Poland, Italy and Russia have already raised 2 million dollars. The families in the United States have raised 1.5 million dollars. But more is needed.
The Timeline
The FDA gave their approval for the research team to produce plasmids. These are genetically engineered molecules located within a healthy ASPA gene. This production will be complete in a few weeks and the team believes the lab will be ready to begin producing vectors by October or November at the latest.
Vector production is then expected to be completed by the end of December. In January/February FDA approval for the surgery needed to administer the therapy his expected.
As Canavan disease affects the brain, the therapy must be administered directly to the brain cells. This surgery involves the drilling of four different holes into the skull. The vector is inserted into the brain cells through these holes. The researchers already have conditional approval for the surgery by the hospital.
Ultimately, the Landsman family hopes that the treatment will be available next February.
An IND will be submitted to make the gene therapy procedure available for any patient with Canavan disease. Additionally, the platform will be able to be utilized for other conditions such as amyotrophic lateral sclerosis and Alzheimers disease. This research could be life changing for so many patients across the world, allowing them not only to live but to thrive, despite their rare diagnosis.
Donate to the Cure Canavan Fund here.
You can read more about this investigation here.
