Efficacy of Sialic Acid GNE Related Thrombocytopenia (SA-thrombo)

January 29, 2018 updated by: Hadassah Medical Organization

A Phase 2 Study to Evaluate the Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Related Thrombocytopenia

Sialic Acid-Extended Release (SA-ER, aceneuramic acid, UX001) is an extended release formulation of sialic acid (SA, also known as N-acetylneuraminic acid or NANA). The SA-ER is currently studied as a substrate replacement therapy for patients with GNE myopathy. The investigators plan to study the SA-ER compound in a cohort of five patients with GNE-related thrombocytopenia.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

The investigators identified 5 affected individuals (3 males and 2 females from three families, age 19-40 years) with GNE-related thrombocytopenia . All subjects will receive 2 gram SA-ER, three times per day for a total daily dose of 6 grams (6,000 mg). The dose should be administered with food (i.e. within 30 minutes of a meal or snack).

Efficacy will be evaluated by improvement in clinical and laboratory assessments. Results from Baseline assessments will be compared with those of post-treatment assessments with efficacy conclusions based on improvement between Baseline and the last scheduled assessment. Safety will be evaluated by the incidence and frequency of adverse events, including clinically significant changes from Baseline to scheduled time points in:

  • Vital signs.
  • History and physical examination findings.
  • Laboratory evaluations.
  • Serum uric acid levels and urinary excretion of uric acid.

Study Type

Interventional

Enrollment (Actual)

5

Phase

  • Phase 2

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 45 years (Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Patients with GNE-related macrothrombocytopenia in the investigated family

Exclusion Criteria:

  • non consenting for this study
  • pregnancy

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Intervention
Sialic acid-Extended release 2000 mg, three times per day (TID) for 3 months
Drug: Sialic Acid-Extended Release
Oral drug of Sialic acid
Other Names:
  • aceneuramic acid, UX001

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Increase in platelet count from baseline
Time Frame: 3 month
3 month

Secondary Outcome Measures

Outcome Measure
Time Frame
Incidence and frequency of AEs and SAEs (Safety)
Time Frame: 3 months
3 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hadassah Medical Organization

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2016

Primary Completion (Actual)

September 1, 2017

Study Completion (Actual)

September 1, 2017

Study Registration Dates

First Submitted

July 24, 2016

First Submitted That Met QC Criteria

July 26, 2016

First Posted (Estimate)

July 27, 2016

Study Record Updates

Last Update Posted (Actual)

January 30, 2018

Last Update Submitted That Met QC Criteria

January 29, 2018

Last Verified

July 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SA thrombo-HMO-CLIT

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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