Efficacy of Sialic Acid GNE Related Thrombocytopenia

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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Thrombocytopenia

Intervention / Treatment
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* Drug: Sialic Acid-Extended Release


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with GNE-related macrothrombocytopenia in the investigated family Exclusion Criteria: non consenting for this study pregnancy

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 45 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Intervention<br>Sialic acid-Extended release 2000 mg, three times per day (TID) for 3 months | Drug: Sialic Acid-Extended Release<br>* Oral drug of Sialic acid<br>* Other names: aceneuramic acid, UX001;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Increase in platelet count from baseline |  | 3 month | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence and frequency of AEs and SAEs (Safety) |  | 3 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Congenital macrothrombocytopenia, Sialic acid, Bleeding