3 Result(s)
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Article
Open AccessThe parent and family impact of CLN3 disease: an observational survey-based study
CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been ...
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Article
Open AccessThe challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers
Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
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Article
Open AccessRegulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders
Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these diseases have no treatments, are incurable, and have a devastating impact on patients and their families. Regulator...
