Efficacy of Sialic Acid GNE Related Thrombocytopenia

Thrombocytopenia Clinical Trial

— SA-thrombo  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02845609
• Other study ID #: SA thrombo-HMO-CLIT
• Status: Completed
• Phase: Phase 2
• First received: July 24, 2016
• Last updated: January 29, 2018
• Start date: September 2016
• Est. completion date: September 2017

Study information

• Verified date: July 2016
• Source: Hadassah Medical Organization
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 5
• Est. completion date: September 2017
• Est. primary completion date: September 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 45 Years

Eligibility

Inclusion Criteria:

• Patients with GNE-related macrothrombocytopenia in the investigated family

Exclusion Criteria:

• non consenting for this study

• pregnancy

Related Conditions & MeSH terms

• Thrombocytopenia

Intervention

Drug:
• Sialic Acid-Extended Release
Oral drug of Sialic acid

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Hadassah Medical Organization

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Increase in platelet count from baseline		3 month
Secondary	Incidence and frequency of AEs and SAEs (Safety)		3 months