Utah Family Loses 3 Children in 3 Consecutive Days to Batten Disease

Two parents in Springville, Utah, lost three children in three consecutive days this summer to Batten disease, also known as neuronal ceroid lipofuscinoses.

According to The Washington Post, Christopher Chappell, 20, Elizabeth, 19, and James, 15, passed away on a Friday, Saturday, and Sunday, respectively. Their joint obituary shares their character, interests, and the love their parents, Lester and Celeste Chappell, felt for them. The obituary states that the three children were survived by seven other siblings. The couple’s youngest son Samuel also has the disease.

The children’s parents began seeking answers to the symptoms they were seeing in three of their children back in 2005. At the time, James had begun complaining of vision problems and Christopher was suffering from seizures, while Elizabeth was experiencing both.

After hearing about Batten disease from a specialist they met, the parents were convinced their children were suffering from the disease based on their symptoms. Later, they all had their diagnoses medically confirmed, either by genetic tests or by the symptoms.

Elizabeth and James were already being tube-fed when Christopher needed intervention. The Chappell parents eventually decided it was too much to bear, seeing all three of their children suffering without a potential cure. They halted intervention completely and took the three children home to receive morphine and lorazepam, used to regulate seizures.

Lester and Celeste stayed by their bedsides, holding their children’s hands and sharing memories of Elizabeth’s dolls and James’ dreams of playing baseball for a professional team, according to another story about the family in Rare Disease Report. They recalled how they figured Christopher would be a doctor because of his inquisitive nature.

The three children were buried in July at the local Evergreen Cemetery. Christopher and Elizabeth were placed in the same burial plot because they were so close, and James is in another double-depth plot with a vacant space above him reserved for Samuel, the fourth sibling who also has Batten disease.

According to the National Institutes of Health (NIH), Batten disease and other forms of neuronal ceroid lipofuscinosis occur in about two to four of every 100,000 live births in the United States.

Based on which gene is mutated, Batten disease can have a multitude of forms. Juvenile Batten disease, which is the type shared by the Chappell children, is the result of a mutation in the CLN3 gene, also known as “battenin.”

Specifically for this subset of patients, Abeona Therapeutics is developing ABO-201, also known as scAAV-CLN3.

In patients with juvenile Batten disease due to a CLN3 gene mutation, the gene is deleted in about 90% of patients, who then have abnormally small and dysfunctional levels of CLN3 protein.

The experimental AAV-based gene therapy is designed to deliver a healthy copy of the CLN3 gene to the body, allowing the production of healthy CLN3 protein. ABO-201 could potentially become the first treatment for juvenile Batten disease.

In January 2017, the European Medicines Agency (EMA) granted orphan drug designation to ABO-201 for the treatment of juvenile Batten disease. More recently, in June 2017, the U.S. Food and Drug Administration (FDA) also granted ABO-201 orphan drug status.

Both in Europe and the U.S., these regulatory designations provide Abeona with incentives and benefits that include reduced fees and protection from market competition once the drug is approved.