Gene/phenotype/disorder under study
OMIM # 300523 , ORPHA code 59
Abstract
Part of the clinical trials aimed at demonstrating the value of Emcitate in the treatment of patients with MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, has now been completed. In the Triac I trial, the drug showed significant effects on serum T3 thyroid hormone levels as well as on several secondary clinical parameters, such as weight, heart rate, and arrhythmias. A marketing authorization for Emcitate has been granted by the European Medicines Agency (EMA): “treatment of peripheral thyrotoxicosis in patients with monocarboxylate transporter 8 (MCT8) deficiency (Allan-Herndon-Dudley syndrome), from birth.”
However, the drug was administered to patients who were already severely affected, and we know that treatments in neurodevelopmental disorders need to be given as early as possible to achieve the greatest benefit. It would therefore be highly relevant to be able to initiate treatment from birth, which could potentially be done through a compassionate use program (free of charge) in collaboration with the company. If you are aware of families for whom personal or religious beliefs would lead the parents to choose not to pursue termination of pregnancy despite the risk of having an affected boy, please feel free to contact us.
Coordinating clinician
Laurence Faivre – laurence.faivre@chu-dijon.fr
Institution
Genetics, CHU Dijon, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No