Natalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, Salvador Ibáñez-Micó, Beatriz Muñoz-Cabello, Olga Alonso-Luengo, Víctor Soto-Insuga, Deyanira García-Navas, Laura Cuesta-Herraiz, Patricia Andreo-Lillo, Sergio Aguilera-Albesa, Antonio Hedrera-Fernández, Elena González Alguacil, Rocío Sánchez-Carpintero, Fernando Martín Del Valle, Erika Jiménez González, Lourdes Cean Cabrera, Ines Medina-Rivera, Marta Perez-Ordoñez, Roser Colomé, Laura Lopez, María Engracia Cazorla, Montserrat Fornaguera, Aida Ormazabal, Itziar Alonso-Colmenero, Katia Sofía Illescas, Sol Balsells-Mejía, Rosanna Mari-Vico, Maria Duffo Viñas, Gerarda Cappuccio, Gaetano Terrone, Roberta Romano, Filippo Manti, Mario Mastrangelo, Chiara Alfonsi, Bruna de Siqueira Barros, Mathilde Nizon, Cathrine Elisabeth Gjerulfsen, Valeria L Muro, Daniela Karall, Fiona Zeiner, Silvia Masnada, Irene Peterlongo, Alfonso Oyarzábal, Ana Santos-Gómez, Xavier Altafaj, Ángeles García-Cazorla
GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial (NCT04646447) designed to evaluate tolerability and efficacy of L-serine in children with GRIN genetic variants leading to loss-of-function. In this phase 2A trial, patients aged 2-18 years with GRIN loss-of-function pathogenic variants received L-serine for 52-weeks. Primary endpoints included safety and efficacy by measuring changes in the Vineland Adaptive Behavior Scales, Bayley Scales, age-appropriate Wechsler Scales, Gross Motor Function-88, Sleep Disturbance Scale for Children, Pediatric Quality of Life, Child Behavior Checklist and the Caregiver-Teacher Report Form following 12 months treatment...
February 21, 2024: Brain