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NCT Number: NCT00433147

A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy

This study was conducted to test the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease already receiving enzyme replacement therapy.

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Key information

Conditions

Gaucher Disease, Type 1 Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gaucher Disease Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Type 1 Gaucher Disease

Age range

18 year–74 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

San Francisco, California, United States

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About this study

This was a Phase 2, open-label study in participants with Gaucher disease, a lysosomal storage disorder. Afegostat tartrate (also known as AT2101 or isofagomine tartrate) is designed to act as a pharmacological chaperone by selectively binding to misfolded β-glucocerebrosidase (GCase) and helping it fold correctly, intended to restore GCase activity. The study consisted of a 14-day screening period, a 28-day treatment period, and a 7-day wash-out period. Participants received 1 of 4 dosing regimens for afegostat tartrate.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Had a confirmed diagnosis of type 1 Gaucher disease with a known documented missense gene mutation in at least 1 of the 2 gene-encoding β-glucosidase alleles
  • Clinically stable
  • Male or female participants, 18 to 74 years old inclusive
  • All participants of childbearing potential used adequate birth control
  • Provided written informed consent to participate in the study

Exclusion criteria

  • Clinically significant disease, severe complications from Gaucher disease, or serious illness that precluded participation in the study in the opinion of the Investigator that compromised the safety of the participant or precluded the participant from completing the study
  • During the screening period, any clinically significant findings, as deemed by the Investigator
  • Partial or total splenectomy (removal of spleen) within the 2 years prior to study entry
  • History of pulmonary hypertension or Gaucher related lung disease
  • History of allergy or sensitivity to the study drug or any excipients, including any prior serious adverse reaction to iminosugars (for example, N-butyldeoxynojirimycin or miglustat)
  • Pregnant or breast-feeding
  • Current/recent drug or alcohol abuse
  • Treatment with any investigational product in the 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 or symptoms of gastrointestinal, liver or kidney disease, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs

Treatment and study plan

Afegostat tartrate

Drug

Other names: isofagomine tartrate, AT2101

Primary outcomes

  1. Number Of Participants Who Experienced Severe Treatment-emergent Adverse Events (TEAEs)

    Time frame: Day 1 (after dosing) through Day 35

    TEAEs were defined as any adverse event (AE) with a start date on or after administration of the study drug (on Day 1). A severe AE was defined as an AE that was incapacitating and required medical intervention. The number of participants who experienced 1 or more severe TEAEs after dosing on Day 1 through 7 days after the last dose of study drug (Day 35) is presented. A summary of serious and all other non-serious AEs regardless of causality is located in the Reported Adverse Events module.

Secondary outcomes

  1. Change From Baseline To End Of Treatment In Beta-glucocerebrosidase (GCase) Levels In White Blood Cells (WBC)

    Time frame: Baseline, Day 28

    GCase is a biomarker used to assess the PD effects of afegostat tartrate. Blood samples were collected to assess GCase levels in WBC. The baseline value was defined as the last non-missing value before the start of study drug.

Sponsors and collaborators

Lead sponsor

Amicus Therapeutics

Industry

Registry information

Official study title

A Randomized, Open-label Study to Assess the Safety and Tolerability of Multiple Dose Levels and Multiple Dosing Regimens of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy

Important dates

Study start
2007
Primary completion
2008
Study completion
2008
First posted
Feb 9, 2007
Registry last updated
Sep 25, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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