Rare Disease Report

New Documentary Follows 3 AADC Patients Receiving Gene Therapy

AUGUST 23, 2017
Mathew Shanley
The documentary Kiseki no Kodomotachi, which translates to Miracle Children, has recently been completed by director Hidetaka Inazuka.

Inazuka, who is best known for his piece on the double atomic-bomb survivor Twice Bombed, Twice Survived, follows 3 Japanese children who suffer from aromatic L-amino acid decarboxylase (AADC) deficiency in his latest work. The documentary provides insight to the many highs and lows that the children face over a 10-year period while suffering from the chronic rare disease.

AADC deficiency is the result of mutations in the ADDC gene, and is inherited in an autosomal recessive manner. It affects the production of signals that allow cells, or neurotransmitters, in the nervous system to communicate with each other. Symptoms most commonly include coordination issues, especially in the head, face and neck, as well as difficulty controlling blood pressure, heart rate and body temperature.

In the film, viewers are taken from the children’s earliest stages, when they were bed-ridden and unable to speak, to recent years in which they have shown dramatic improvement thanks to gene therapy. The impetus behind the documentary was Inazuka’s introduction to a boy from Tokyo who had been diagnosed. At the time, the boy, now 20, was told he had been suffering from brain paralysis.

“As the disorder is extremely rare, it is difficult to even get a correct diagnosis. I thought I would make the film to, first of all, let people know about the existence of such an illness,” said Inazuka in an interview with the Japan Times. “I hope the film will cheer up patients with a similar disease.”

In the decade since his introduction to the featured AADC patients, Inazuka has visited with each of them in their Yamagata Prefecture more than 30 times.

In 2015, the children were recipients of gene-repair brain surgery that led to a dramatic progress in their condition, including the ability to sit up and show clear facial expressions. The documentary enlightens viewers on the children’s daily processes, including their interactions at home, visits to doctors, and interactions with the teachers and nurses at their schools for handicapped children.

“I feel like I am their uncle nowadays,” Inazuka says. “I hope people recognize the potential of this medical development.”

Details of the gene therapy used in these 3 children are currently unknown, but it is likely the same treatment in development by Hwu et al at the National Tawain University Hospital. The group is working with Japanese and American researchers and Agilis Biotherapeutics on clinical trials in which adeno-associated virus (AAV) vector containing the AADC gene is inserted directly into the brain.

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