|
Alltrna presents preclinical data demonstration proof of concept for first trna development candidate
(English)
|
|
Author(s): Alltrna Press Release on prnewswire
|
Rating:
No Rating
Read Reviews
|
|
Link
|
|
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
(English)
|
|
Author(s): Muntau, Ani; Longo, Nicola; Ezgu, Fatih, Schwartz, Ida Vanessa D; Lah, Melissa; Bratkovic, Drago, Smith, Neil; MacDonald, Anita; Kiykim, Ertugrul; Zori, Roberto; Campistol Plana, Jaume; Bélanger-Quintana, Amaya; Lund, Allan; Guilder, Laura;
|
Rating:
No Rating
Read Reviews
|
|
Description: https://pubmed.ncbi.nlm.nih.gov/39368841/
|
|
PDF
|
Link
|
|
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
(English)
|
|
Author(s): Khan Sophia M., Heister Robyn R, Keathley Justine R.
|
Rating:
No Rating
Read Reviews
|
|
Description: Phenylketonuria (PKU) is an autosomal recessive genetic condition that results in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway, which is involved in the metabolism of phenylalanine (Phe) into tyrosine (Tyr). Without dietary intervention, individuals with PKU exhibit significantly elevated levels of Phe, which is presumed to cause severe neurological dysfunction and other associated health risks. Carriers of PKU are heterozygotes for a PAH gene mutation and are typically described in the literature as “unaffected.” However, decades of existing research challenges this classical thinking and it is plausible that these individuals currently classified as carriers may present with an intermediate phenotype or may be “moderately affected.”
|
|
PDF
|
Link
|
|
Youth and family involvement in the development of a plain language trial results communication tool: CommuniKIDS
(English)
|
|
Author(s): Ami Baba, Dawn P. Richards, Maureen Smith, Nicole Pallone, Shelley Vanderhout, Matthew Prebeg, Ellen B. M. Elsman, Beth K. Potter, Martin Offringa & Nancy J. Butcher
|
Rating:
No Rating
Read Reviews
|
|
Description: Pediatric trials are possible through voluntary participation of children, youth (age ? 18 years), and their families. Despite important arguments for trialists to provide trial progress or results, and evidence that participants desire it, this information remains rarely shared with youth and their families. Little guidance exists on how trialists can best communicate trial results back to participants and their families. Guided by Liabo et al.'s framework, we describe how we developed a pediatric-specific, "plain language summary" clinical trial results template called CommuniKIDS with an adult patient partner, family partner (parent), youth advisors, and parent advisors, taking into account their unique knowledge needs and preferences.
|
|
PDF
|
PDF
|
PDF
|
|
