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Completed

NCT Number: NCT02845609

Efficacy of Sialic Acid 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.

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Key information

Conditions

Thrombocytopenia Blood Platelet Disorders Cytopenia Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhage Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

18 year–45 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

About this study

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.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Patients with GNE-related macrothrombocytopenia in the investigated family

Exclusion criteria

  • non consenting for this study
  • pregnancy

Treatment and study plan

Sialic Acid-Extended Release

Drug

Oral drug of Sialic acid

Other names: aceneuramic acid, UX001

Primary outcomes

  1. Increase in platelet count from baseline

    Time frame: 3 month

Secondary outcomes

  1. Incidence and frequency of AEs and SAEs (Safety)

    Time frame: 3 months

Sponsors and collaborators

Lead sponsor

Hadassah Medical Organization

Other

Registry information

Official study title

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

Acronym: SA-thrombo

Important dates

Study start
2016
Primary completion
2017
Study completion
2017
First posted
Jul 27, 2016
Registry last updated
Jan 30, 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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