View clinical trials related to Classic Galactosemia.
Filter by:This study is a 12-month open-label extension (OLE) study of AT-007 in adult subjects with CG who previously participated in Study AT-007-1001 Part D and/or Part D Extension. The study is designed to assess the long-term safety of AT-007 in subjects with CG as well as the pharmacodynamics (PD) (inhibition of galactitol) and PK of AT-007. The effect of 12-month treatment with AT-007 on the levels of galactose and other galactose metabolites in subjects with CG will also be evaluated.
This study is designed to assess the clinical benefit as well as the safety, pharmacokinetics (PK), and pharmacodynamics (PD) (reduction of galactitol levels) of AT-007 in pediatric subjects with Classic Galactosemia (CG).
This study is a first-in-human, randomized, placebo-controlled, 4-Part, single ascending dose (SAD) and multiple ascending dose (MAD) study in healthy adult subjects and adult subjects with Classic Galactosemia.
A critical knowledge gap is whether proactive intervention can improve speech and language outcomes in infants at known risk for communication disorders. Speech and language assessments and treatments are usually not initiated until deficits can be diagnosed, no earlier than age 2-3 years. Preventive services are not available. Children with classic galactosemia (CG) hold the keys towards investigating whether proactive services are more effective than conventional management. CG is a recessively inherited inborn error of metabolism characterized by defective conversion of galactose. Despite early detection and strict adherence to lactose-restricted diets, children with CG are at very high risk not only for motor and learning disabilities but also for severe speech sound disorder and language impairment. Delays are evident from earliest signals of communication and persist into adulthood in many cases but speech/language assessment and treatment are usually not initiated until deficits manifest. However, because CG is diagnosed via newborn screening, the known genotype-phenotype association can be leveraged to investigate the efficacy of proactive interventions during the acquisition of prespeech (2 to 12 months) and early communication skills (13 to 24 months). If this proactive intervention is more effective than standard care regarding speech and language outcomes in children with CG, this will change their clinical management from deficit-based to proactive services. It will also motivate investigating this approach in infants with other types of known risk factors, e.g., various genetic causes and very low birth weight. The Babble Boot Camp is a program for children with CG, ages 2 to 24 months. The intervention is implemented by a pediatric speech-language pathologist (SLP) via parent training. Activities and routines are designed to foster earliest signals of communication, increase coo and babble behaviors, support the emergence of first words and word combinations, and expand syntactic complexity. The SLP meets with parents online every week for 10 to 15 minutes to provide instruction, feedback, and guidance. Close monitoring of progress is achieved via regularly administered questionnaires, a monthly day-long audio recording, and the SLPs weekly progress notes. At age 24 months, the active phase of the Babble Boot Camp ends. The children receive a professional speech/language assessment at ages 2 1/2, 3 1/2, and 4 1/2 years.
Rationale: Classic galactosemia is a rare inherited metabolic disease that presents in neonatal patients with a life-threatening multi-organ toxic syndrome. Although the current standard of care - a galactose-restricted diet - quickly relieves the severe neonatal clinical picture, it fails to prevent brain and gonadal sequelae. There is a need for new therapeutic strategies. As arginine is an amino acid that is therapeutically widely used with no side effects described, we propose to use it in a pilot-clinical study. We aim to evaluate the effects of arginine in classic galactosemia patients, in order to determine its potential therapeutic role in this disease. Objective: To evaluate the possible effect of arginine on the whole body galactose oxidative capacity in classic galactosemia patients. Study design: Interventional pilot-clinical study with pre-post single arm design. Study population: We aim to include 5 classic galactosemia adult patients homozygous for the p.Q188R mutation. Intervention: All participants will receive arginine in the form of Asparten ® (arginine aspartate) during 1 month, by oral administration. The main study parameter is whole body galactose galactose oxidative capacity.