SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R535H

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease

This is a multicenter study to assess the safety and efficacy of taliglucerase alfa (60 units/kg) in previously untreated subjects of any age with Type 3 GD. Subjects will receive an infusion of taliglucerase alfa every 2 weeks for 12 months. Subjects who tolerate the infusions well, and who are treated in centers where home therapy is the SOC will be allowed to switch from site to home treatment at the discretion of the PI but after no less than 3 uneventful infusions at the site.

NCT04002830
Conditions
  1. Gaucher Disease, Type 3
Interventions
  1. Drug: Elelyso
MeSH:Gaucher Disease

At least one allele of: - N370S (N409S in recent nomenclature) - R496H (R535H in recent nomenclature) 4. Presence of calcification in heart valves or arteries in echocardiography. 5. Presence of untreated iron, folic acid, vitamin B12 deficiency and/or hypothyroidism. --- N370S --- --- N409S --- --- R496H --- --- R535H ---

Primary Outcomes

Description: Percent change from baseline

Measure: Percent change from baseline in spleen volume measured by MRI

Time: from baseline to month 12

Secondary Outcomes

Description: Percent change from baseline

Measure: Percent change from baseline in liver volume measured by MRI

Time: from baseline to month 12

Description: Percent change from baseline

Measure: Percent change in hemoglobin

Time: from baseline to Months 3, 6, 9, and 12

Description: Percent change from baseline

Measure: Percent change in platelet count

Time: from baseline to Months 3, 6, 9, and 12

Description: Percent change from baseline

Measure: Percent change in Lyso-GB1

Time: from baseline to Months 3, 6, 9, and 12


HPO Nodes