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Patients with increased PLP1 dosage have variable phenotypes ranging from severe connatal PMD to mild PMD/SPG2, but most have a classic form of disease (1-3).
The disease occurs only in males, and those with the most severe form of the disease, connatal PMD, are significantly disabled from birth and usually die, within the first decade of life.
The open-label Phase I trial, conducted between February 2010 and February 2012, enrolled four patients with the connatal form of PMD, between the ages of 14 months and 5 years, and was designed to assess safety and preliminary efficacy of the intervention.
The disease form in early infancy is referred to as connatal PMD and diagnosis in later childhood is most typically associated with the classic form.
The trial is expected to enroll four patients with connatal PMD, which is the most severe form of the disease.
Connatal PMD, the most severe form of the disease, is frequently diagnosed in early infancy with symptoms often present at birth.