A RandomIzed, Double-Blind, Placebo-CoNtrolled, Two-Part Study to Evaluate the Pharmacodynamic EffIcacy and Clinical Benefit of AT 007 in Patients with SoRbitol Dehydrogenase (SORD) DEficiency

Conditions

Sorbitol Dehydrogenase (SORD) Deficiency

Brief summary

Change from baseline to Month 12 in the level of blood sorbitol, Change from baseline to Month 24 on the 10MWRT

Detailed description

Change from baseline to Month 12 on the 10MWRT, Change from baseline to Month 12 on CMT-FOM total and subdomain scores, Change from baseline to Month 12 on CMTHI score, Correlation between change in sorbitol and changes in all clinical outcomes, Change from baseline to Month 12 in the percentage of fat in lower extremity muscle as assessed by MRI, Change from baseline to Month 24 on CMTHI score, Change from baseline to Month 24 on the CMT-FOM total and subdomain scores, Change from baseline to Month 24 in the level of blood sorbitol and correlation with all clinical outcomes, Change from baseline to Month 24 in the percentage of fat in lower extremity muscle as assessed by MRI (only if Month 12 between-group difference [AT-007 minus placebo] is not statistically significant), Assessment of the patients’ perspective on the impact of disease on their lives and the benefit or perceived harm during the study with an “exit interview”

Related papers

No related papers found yet.

Interventions

DRUGAT-007

DRUGAT-007 Placebo

DRUGoral suspension

Eligibility

Sex/Gender

All

Age

0 Years to 64 Years

Design outcomes

Primary

Measure	Time frame
Change from baseline to Month 12 in the level of blood sorbitol, Change from baseline to Month 24 on the 10MWRT	—

Secondary

Measure	Time frame
Change from baseline to Month 12 on the 10MWRT, Change from baseline to Month 12 on CMT-FOM total and subdomain scores, Change from baseline to Month 12 on CMTHI score, Correlation between change in sorbitol and changes in all clinical outcomes, Change from baseline to Month 12 in the percentage of fat in lower extremity muscle as assessed by MRI, Change from baseline to Month 24 on CMTHI score, Change from baseline to Month 24 on the CMT-FOM total and subdomain scores, Change from baseline to Month 24 in the level of blood sorbitol and correlation with all clinical outcomes, Change from baseline to Month 24 in the percentage of fat in lower extremity muscle as assessed by MRI (only if Month 12 between-group difference [AT-007 minus placebo] is not statistically significant), Assessment of the patients’ perspective on the impact of disease on their lives and the benefit or perceived harm during the study with an “exit interview”	—

Measure

Time frame

Change from baseline to Month 12 on the 10MWRT, Change from baseline to Month 12 on CMT-FOM total and subdomain scores, Change from baseline to Month 12 on CMTHI score, Correlation between change in sorbitol and changes in all clinical outcomes, Change from baseline to Month 12 in the percentage of fat in lower extremity muscle as assessed by MRI, Change from baseline to Month 24 on CMTHI score, Change from baseline to Month 24 on the CMT-FOM total and subdomain scores, Change from baseline to Month 24 in the level of blood sorbitol and correlation with all clinical outcomes, Change from baseline to Month 24 in the percentage of fat in lower extremity muscle as assessed by MRI (only if Month 12 between-group difference [AT-007 minus placebo] is not statistically significant), Assessment of the patients’ perspective on the impact of disease on their lives and the benefit or perceived harm during the study with an “exit interview”

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Countries

Czechia, Italy

Outcome results

None listed