Aromatic L-amino acid decarboxylase deficiency (AADC-M) is a rare, autosomal recessive neurometabolic disorder caused by pathogenic variants in the DDC gene, leading to a severe impairment of dopamine and serotonin synthesis. The severe form of the disease is characterized by pronounced extrapyramidal movement disorders, oculogyric crises, autonomic dysregulation, and global developmental delay. Eladocagen exuparvovec is [...]
WE NEED YOUR HELP! PATIENT REPORTED OUTCOME MEASURES (PROMS) FOR NEUROTRANSMITTER RELATED DISORDERS QUESTIONNAIRE! The patient organization Hrabrisa (Home - Hrabriša) has developed a questionnaire in collaboration with iNTD to collect patient-reported outcomes (PROMs) (https://www.proms-ntd.org/). We want to understand better the experience of patients, families, and caregivers face with neurotransmitter-related disorders. Through this questionnaire, you [...]
The International Neurotransmitter Disorders Conference (INDConf) will take place November 5–7 2025 in London, UK. It is a unique global event bringing together clinicians, researchers, industry leaders, and families to share knowledge, foster collaboration, and advance care for rare neurotransmitter disorders. INDConf 2025 will feature cutting-edge research, real-world clinical updates, powerful family-led sessions, and interactive workshops—all [...]
Rare Neurotransmitter Diseases (RND) Researchers Forum Connecting the Network: from basic research and clinical phenotypes to patient voice 16th May 2025, Movenpick hotel Zagreb We are looking forward to welcoming you to Zagreb, Croatia, for the Rare Neurotransmitter Diseases (RND) Researchers Forum, the event developed within The Chan Zuckerberg Initiative, Rare As One Network [...]
International Neurotransmitter Disorders Conference, London 2025 Please save the date! November 5th-7th, 2025 Goodenough College, London, UK ‘Bridging Scientific Innovation and Clinical Advances for Patients’ Key conference themes: ❖ Expanding spectrum of primary and secondary neurotransmitter disorders ❖ Advances in laboratory diagnostics ❖ Genetics ❖ Functional genomics and disease modelling ❖ Gene therapy and [...]
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents the results of the first standardized study on levodopa-refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities in [...]
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied [...]
JIMD Special Issue Communication was also the main goal of the conference “Rare-neurotransmitter-related diseases—Research to treatment (RNTD-R2T)” which took place in the city of Belgrade, Serbia, with 184 participants from 24 countries. With funding from the European Joint Programme Rare Diseases (EJPRD) and with the aim of fostering involvement of and exchange between all stakeholders, [...]
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied [...]
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents the results of the first standardized study on levodopa-refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities in [...]
