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Conference Roundup
Metabolic

New Data on the Natural History of MoCD Type A at SSIEM Conference

Posted on March 15, 2020

BridgeBio Pharma, Inc, a subsidiary Origin Biosciences announced today the presentation of a study on the natural history of patients with Molybdenum Cofactor Deficiency (MoCD) and isolated sulfite oxidase deficiency (ISOD). The study was presented at the 2019 SSIEM Annual Symposium held in Rotterdam, Netherlands.

In this comprehensive natural history study, 65 patients with MoCD and ISOD were enrolled from 27 participating centers across 14 countries. The majority of patients had MoCD Type A (n=37), followed by MoCD Type B (n=16) and Other (n=12). Data were collected retrospectively for all patients and prospectively for patients in the living cohort for up to one year. The primary endpoint was survival at 1 year of age.

For MoCD Type A patients, the probability of survival at 1 year of age was 0.72 (0.535-0.845) and median survival was 3.98 years. Nearly all patients (n=57) had first presenting symptoms by Day 28 with median onset for MoCD Type A patients at 2 days. The most common initial symptoms were seizures and feeding difficulties. Other subsequent symptoms included developmental delay, truncal hypotonia with limb hypertonia, and cortical blindness. Median urinary S-sulfocysteine and xanthine concentrations were extremely high, and uric acid levels were drastically low in the first few days of life. Additional biochemical and neuroimaging data were collected. These data were presented during the Disorders of vitamins, cofactors and trace elements poster session at SSIEM. See below for a detailed summary of the data.

Read the full press release here.

Source: BridgeBio Pharma
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