Roadmap for Children After Gene Therapy
Richard Poulin IIIAromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects how the brain produces certain important chemicals known as neurotransmitters—specifically dopamine, serotonin, norepinephrine, and epinephrine. These chemicals play a major role in movement, mood, and basic bodily functions.
Because of the lack of these neurotransmitters, children with AADC deficiency often face a range of serious challenges. These may include delays or absence of motor milestones like head control, sitting, or walking; episodes of abnormal eye movements (oculogyric crises); uncontrolled movements or stiffness (dystonia); feeding difficulties; low muscle tone; and trouble regulating basic functions like breathing or heart rate. Some children are also mistakenly diagnosed with seizures when, in fact, the episodes are related to movement. Diagnosis can be complex, but more awareness and access to testing are helping families get answers sooner.
Position Statement on Post Gene Therapy
In 2022, a new treatment brought hope to families facing this diagnosis. A gene therapy called eladocagene exuparvovec was approved in Europe and the UK. This therapy delivers a healthy copy of the AADC gene directly into the brain, allowing the body to start producing dopamine again. Clinical studies and real-life experiences have shown very encouraging results.
Children who were unable to meet basic milestones before treatment began to make noticeable progress—gaining head control, sitting up, and in some cases even walking independently. Improvements were often seen within the first three months and continued over the following years. Some children also showed growth in thinking and communication abilities. Most side effects were mild and temporary, such as fever or brief episodes of extra movement.
Life After Gene Therapy
However, gene therapy is only one part of the journey. To truly unlock a child’s potential after treatment, it’s essential to provide consistent, targeted rehabilitation. Think of gene therapy as giving your child the tools they need—it’s through therapy that they learn to use those tools.
Right now, there are no official, detailed guidelines for what therapy should look like after gene therapy for AADC deficiency. To address this, a group of professionals—including doctors, therapists, and parents—came together to share what they’ve learned from working with children who have gone through this process.
Based on these shared experiences, several key therapy recommendations have emerged. Therapy should begin as soon as your child is ready after gene therapy and should continue consistently, sometimes with intensive periods, balanced with rest. The focus should be on encouraging your child to actively move, rather than relying on passive movement.
Play-based approaches that motivate and engage your child can be especially effective. Therapy should also target functional goals—skills that help your child in daily life, such as sitting, reaching, standing, or walking. Progress may be slow or come in small steps, but every bit counts.
It’s also important not to overlook cognitive and communication development. Activities that support learning, attention, and speech should be part of your child’s therapy plan. Parents and caregivers play a central role, too.
Learning therapy techniques to use at home and being part of the planning process empowers you to support your child between formal therapy sessions. Working closely with your child’s therapists ensures that the home program is realistic, consistent, and personalized. Additionally, families are encouraged to explore supplemental therapies that their child enjoys, such as music therapy, water therapy, or animal-assisted therapy. These can enhance motivation and overall well-being.
Finally, every child with AADC deficiency is unique. Some children may make large gains, while others progress more slowly. The important thing is that therapy is tailored to your child’s individual needs and abilities, and that all members of the care team—including you—are working together.
