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Type 2 Gaucher Disease – Where do we go from here?

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The Changing Face of Type 2 Gaucher Disease: A Natural History Study

Background
Gaucher disease (GD), the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Neuronopathic type 2 GD is the rarest, as well as the most severe and progressive form. Traditionally, the clinical presentation is considered to
be stereotypic; however it can range from hydrops fetalis to the collodion baby phenotype to infants presenting after 6 months of life. Neurological involvement occurs very early on in the disease process, resulting in severe degeneration and death in infancy or early childhood.
However in the past decades, infants have been living longer due to more aggressive interventions. The purpose of this study is to delineate the changing clinical course of type 2 GD. Establishing this data may help with the management of these affected individuals as well as their families. Also, the collected information will provide an essential baseline for future treatmentprotocols.

Methods
A cohort of both living and deceased patients with clinically and molecularly confirmed type 2 GD is being identified from patient databases, patient support groups and referring physicians. A structured telephone interview consisting of in-depth medical questions will beconducted with parents of affected type 2 GD individuals. Questions asked duringthe telephone interview include information regarding disease presentation, disease progression, surgical history, medications, feeding issues, family history, treatment or interventions, disease complications, hospice care, cause of death and the impact of disease on other family members. Medical records will be reviewed when available.

Results
Currently available treatment options, while not curative, appear to be changing the clinical course of type 2 GD. Affectedindividuals are living longer, but interventions do not appear to markedly impact the neurological manifestations. This study is in its preliminary stages and is anticipated to highlight newer complications or disease manifestations seen in these patients.

Conclusion
Diagnosing and treating infants with type 2 GD has always been a challenge to clinicians. It is paramount that we understand the baseline and any changes in the clinical course of this disease, as it often impacts not just the patient, but also the entire family. The data generated will
be essential in the design of any future interventional protocols, helping to identify goals of treatment and milestones to determine efficacy.

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