Evaluating the Safety of Anesthesia for Children with Rare Diseases

An IV drip chamber appears in sharp focus in the foreground, with blurred medical staff and patient in the background.

Natural history studies—studies that follow a group of people with a specific medical condition or disease over time—are essential to understand how rare pediatric neurometabolic diseases develop and to assess potential treatments. Certain research procedures, such as collecting cerebrospinal fluid samples, may require sedation, especially for young study participants with neurocognitive impairment. Some parents and caregivers may be reluctant to enroll their children in research studies because of concerns about anesthesia side effects and potential worsening of disease.

To evaluate the safety of sedation for research procedures, researchers led by An N. Dang Do, M.D., Ph.D., of the Porter Research Group reviewed medical records from two natural history studies being conducted at the NIH Clinical Center (CC). The work was facilitated by collaborations with scientists at the National Human Genome Research Institute and the CC. The two studies focus on CLN3 and GM1 gangliosidosis, genetic disorders that lead to decline of brain and nervous system functions. Between April 2017 and October 2019, 22 children and adolescents with CLN3 underwent anesthesia a total of 28 times, while 15 with GM1 gangliosidosis had 19 anesthetic events.

There were no major adverse effects related to sedation in either group. Minor adverse events occurred in 28% of anesthetic events for children with CLN3 and 32% for children with GM1 gangliosidosis, frequencies that are expected for children with mild-to-severe systemic disease. Some children with CLN3 became combative or irritable during recovery from sedation. A small number of children with CLN3 who were given the sedative dexmedetomidine had no behavioral problems during recovery.

Overall, the results indicate that sedating children and adolescents with rare neurometabolic diseases for research procedures is safe and enables collection of data to advance the understanding and treatment of these conditions. The findings also suggest that pre-anesthesia evaluations can help determine features, such as a history of behavioral problems, that may inform improved post-anesthesia care.

Learn more about the Developmental Endocrinology, Metabolism, Genetics and Endocrine Oncology Group: https://www.nichd.nih.gov/about/org/dir/affinity-groups/DEMG-EO

top of pageBACK TO TOP