a long-term extension study of at2101 (afegostat tartrate) in type 1 gaucher patients

Conditions: Gaucher Disease; Type 1 Gaucher Disease; Gaucher Disease, Type 1

Summary: this study evaluated the long-term safety and efficacy of afegostat tartrate in participants with gaucher disease who were enrolled in a previous phase 2 study of afegostat tartrate.

this was an open-label, long-term extension study of afegostat tartrate in participants with type 1 gaucher disease who successfully completed study gau-cl-202 (nct00446550). participants could enter the study immediately upon completion of participation in the lead-in study gau-cl-202, or at any later time point. participants received 225 milligram (mg) afegostat tartrate, administered orally for 30 months, and remained in 1 of the 2 randomized treatment regimens of study gau-cl-202: afegostat tartrate once daily (qd) for 3 consecutive days, then no afegostat tartrate for 4 consecutive days (consecutive 3-days-on/4-days-off) or qd for 7 consecutive days, then no afegostat tartrate for 7 days (consecutive 7-days-on/7-days-off). amendment 2 removed the 7-days-on/7-days-off regimen and added an alternative 3-days-on/4-days-off regimen: afegostat tartrate qd on monday, wednesday, and friday, then no afegostat tartrate on tuesday, thursday, saturday, and sunday (mwf 3-days-on/4-days-off). once amendment 2 was implemented at a site, participants assigned to the 7-days-on/7-days-off regimen switched to a 3-days-on/4-days-off regimen; those on the original 3-days-on/4-days-off regimen could switch to the mwf 3-days-on/4-days-off regimen. amendment 4 removed the original 3-days-on/4-days-off regimen and any participants still on that regimen switched to the mwf 3-days-on/4-days-off regimen. study visits occurred every 3 months for 30 months. participants were contacted approximately 1, 3, and 6 months after the end of treatment (eot) or early termination for follow-up assessments.

Eligibility criteria:
inclusion criteria: * male or female participants, 18 years of age or older * completed study gau-cl-202 with no significant protocol violations or safety concerns * clinically stable * had not received enzyme replacement therapy (ert) or substrate reduction therapy (srt) in the past 12 months and was willing not to initiate ert or srt during study participation * agreed to practice an acceptable method of contraception * provided written informed consent to participate in the study exclusion criteria: * during the screening period, had any clinically significant findings which would compromise the safety of the participant, or preclude the participant from completing the study as deemed by the investigator * had a clinically significant disease, severe complications from gaucher disease, or serious intercurrent illness that may preclude participation in the study, in the opinion of the investigator * had a history of allergy or sensitivity to the study drug or any excipients, including any prior serious allergic reaction to iminosugars (for example, miglustat) * had a pacemaker or other contraindication for magnetic resonance imaging scanning * was pregnant or breast-feeding * had current gastrointestinal, liver, or kidney disease, sequelae of these diseases, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs * participant was otherwise unsuitable for the study in the opinion of the investigator

Keywords: amicus therapeutics at2101 afegostat tartrate isofagomine tartrate