HCT & Gene Therapy in the Treatment of Inherited Metabolic Disorders (231)

2:15–3:15 pm Saturday, September 7

Inherited metabolic disorders (IMDs) are a diverse group of diseases caused by genetic mutations that result in potentially lethal enzymatic abnormalities. Some IMDs such as adrenoleukodystrophy and mucopolysaccharidosis can be diagnosed by routine newborn screen, while others will present later in life when symptoms appear.

Early recognition and immediate referral to an IMD specialist is crucial for the care of this vulnerable population. IMDs often have debilitating sequelae, affecting multiple systems. Symptoms may include difficulty swallowing, impaired hearing and vision, muscle spasms, seizures, impaired neurologic and cognitive function, and premature death. Treatment recommendations are based on the specific IMD, its phenotype, rate of progression, the prior extent of disease, and family values. Treatment options also need to carefully balance the risk and potential benefits. Enzyme replacement therapy, allogeneic hematopoietic cell transplantation (HCT), and most recently gene therapy play an important role in the treatment of IMDs. Gene therapy utilizes autologous hematopoietic cells that are gene-modified in the laboratory to express the deficient enzyme. A multidisciplinary approach at an experienced center is highly recommended; nursing plays a crucial role in facilitating their complex care. Harmonized follow-up in a specialized center is crucial because some of the patients will face residual disease burden after successful cell or gene therapy.

Victoria Szenes, MS RN CPNP
CNE Hours: