A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease
Condition: Gaucher Disease; Type 1 Gaucher Disease; Gaucher Disease, Type 1
MeSH terms: Gaucher Disease
Intervention: afegostat tartrate
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Allocation: Randomized
Intervention model: Parallel Assignment
Masking: None (Open Label)
Enrollment: 19.0
Sex: All
Minimum age: 18 Years
Maximum age: 74 Years
Healthy volunteers: No
Keywords: Amicus Therapeutics; afegostat tartrate; isofagomine tartrate; AT2101

Summary:

      This study evaluated the safety and tolerability of afegostat tartrate in participants with
      type 1 Gaucher disease who were not receiving enzyme replacement therapy (ERT) or substrate
      reduction therapy (SRT).
    

Eligibility criteria:

        Inclusion Criteria:

          -  Confirmed diagnosis of type 1 Gaucher disease with a known genotype and a documented
             missense gene mutation in at least 1 of the 2 gene-encoding β-glucosidase (GBA)
             alleles

          -  Clinically stable

          -  Treatment naïve to ERT and SRT or had not received ERT or SRT in the 12 months before
             screening

          -  Willing to not initiate ERT or SRT treatment during study participation

          -  Male or female participants, 18 to 74 years old, inclusive

          -  At the screening period (Day -21 to Day -1), participants must have met at least 2 of
             the following criteria: platelet count of ≤150,000 per microliter, hemoglobin ≤12
             grams/deciliter (g/dL) for females and ≤13 g/dL for males, liver volume ≥1.25
             multiples of normal (MN), and spleen volume ≥2 MN

          -  All participants of reproductive potential were required to practice an acceptable
             method of contraception

          -  Provided written informed consent to participate in the study

        Exclusion Criteria:

          -  A clinically significant disease other than Gaucher disease, severe complications from
             Gaucher disease, or serious intercurrent illness that precluded participation in the
             study in the opinion of the investigator

          -  During the screening period, had any clinically significant findings as deemed by the
             investigator

          -  Partial or total splenectomy

          -  Documentation of moderate or severe pulmonary hypertension, defined as pulmonary
             arterial pressure >35 millimeters of mercury (mmHg) or significant Gaucher-related
             lung disease

          -  History of allergy or sensitivity to the study drug or any excipients, including any
             prior serious allergic reaction to iminosugars

          -  Pacemaker or other contraindication for magnetic resonance imaging (MRI) scanning

          -  Pregnant or breast-feeding

          -  Current/recent drug or alcohol abuse

          -  Treatment with any investigational product in the last 90 days before study entry

          -  Treatment in the previous 90 days with any drug known to have a well-defined potential
             for toxicity to a major organ

          -  Presence of symptoms of gastrointestinal, liver or kidney disease, or other conditions
             known to interfere with the absorption, distribution, metabolism, or excretion of
             drugs