About

Clinical science

iNTD is made up of an internationally leading team of scientists and clinicians. We set up an international registry for the documentation of clinical data from patients with neurotransmitter related disorders.

Biogenic amines neurotransmitter disorders
BH4 deficiencies
Cerebral folate deficiencies
Serine deficiencies
Disorders of glycine metabolism
GABA related disorders
Co-Chaperone deficiencies

Basic Sciences

As a collaboration of internationally renowned researchers, we perform cutting-edge research on neurotransmitter related disorders with the goal to transform our results into novel advanced clinical approaches. We want to identify and understand the pathomechanisms involved in neurotransmitter deficiencies.

Current projects

Patient registry
Guideline Development BH4 Deficiencies
Parkinson Dystonia Rating Scale

Patient registry

The major goal of Network I is to set-up a web-based patient registry for inherited defects of biogenic amines, pterin, folate, serine, glycine an GABA metabolism. This aims to provide a basis for improving our understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases, their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies (www.intd-registry.org).
Based on the evaluation of current known diagnostic and therapeutic strategies, consensus care guidelines will be developed.
Following diseases will be included:

Biogenic amines neurotransmitter disorders:

Aromatic amino acid decarboxylase (AADC) deficiency
Tyrosine hydroxylase (TH) deficiency
Dopamine beta-hydroxylase (DßH) deficiency
Monoamine oxidase A (MAOA) deficiency
Dopamine transporter (DAT) deficiency
Vesicular monoamine transporter 2 (VMAT) deficiency

BH4 deficiencies:

Autosomal recessive GTP cyclohydrolase deficiency
Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease)
6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency
Dihydropteridine reductase (DHPR) deficiency
Sepiapterin reductase (SR) deficiency

Cerebral folate deficiencies:

Folate receptor alpha (FOLR1) deficiency
Dihydrofolate reductase (DHFR) deficiency

Serine deficiencies:

3-phosphoglycerate dehydrogenase (3-PGDH) deficiency
3-phosphoserine phosphatase (3-PSP) deficiency
Phosphoserine aminotransferase deficiency

Disorders of glycine metabolism:

Glycine encephalopathy, also known as Non-ketotic hyperglycinaemia

GABA related disorders:

GABA-transaminase deficiency
Succinate-semialdehyde-dehydroxylase deficiency

Co-Chaperone deficiencies:

DNAJC12 deficiency

For further information about the iNTD study please contact Dr. Kathrin Jeltsch (study coordinator).

Study Coordinators: Thomas Opladen, Oya Kuseyri Hübschmann, Kathrin Jeltsch, Florian Gleich

Guideline Development: BH4 deficiencies

Deficiencies of Tetrahydrobiopterin (BH4) Metabolism build one of the main group of inherited neurotransmitter disorders. This group consists of following disorders:

Autosomal recessive GTP cyclohydrolase deficiency
Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease)
6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency
Dihydropteridine reductase (DHPR) deficiency
Sepiapterin reductase (SR) deficiency

The aim of this project is to develop a consensus guideline about diagnostic and treatment of these disorders in the framework of iNTD with international experts in this field.

Parkinsonism-Dystonia–Rating-Scale

The aim of the project is to define a clinical scale for Parkinsonism-Dystonia–Rating which enables an objective clinical evaluation of the movement disorder in pediatric patients and allows comparable, reliable follow-up.

Where to find us…

Meet Our Team

The iNTD is led by the iNTD steering committee and the scientific board. Meet our partners:

Thomas Opladen

Steering Committee | Scientific Board

Prof. Dr. Thomas Opladen, MD is a trained Pediatrician with a special focus on neurometabolic disorders. In 2008 he finished his pediatric training and did degrees on Pediatric Metabolic Medicine, Pediatric Intensive Care Medicine, and Child Neurology. He founded the iNTD network (International Working Group on Neurotransmitter related Disorders) and established the iNTD patient registry. In 2017 he was appointed Associate Professor at the University of Heidelberg.

Àngels Garcia Cazorla

Àngels Garcia Cazorla

Steering Committee | Scientific Board

Àngels Garcia Cazorla received her degree and Ph.D. in Medicine from the University of Barcelona in 1993. She completed her clinical and scientific training in Inborn Errors of Metabolism and Neurometabolic Disorders at Hospital Necker (Paris) and the University of Columbia (New York). She is currently the coordinator of the Neurometabolic Disorders Unit and of the research work into neurotransmission mechanisms and neuronal communication in this group of diseases at Sant Joan de Déu Barcelona Children’s Hospital.

Manju Kurian

Steering Committee | Scientific Board

Dr. Kurian is an academic pediatric neurologist who has worked at Great Ormond Street Hospital since March 2011. She is also affiliated to the Neurosciences Unit at the Institute of Child Health, UCL. She received her medical degree from the University of Cambridge and her pediatric training at RCPCH London. In December 2010 she received her Ph.D. in human molecular genetics from the University of Birmingham. She is highly interested in movement disorders, neurotransmitter diseases, and neurogenetics.

Vincenzo Leuzzi

Roser Pons

Vincenzo Leuzzi

Scientific Board

Prof. Vincenzo Leuzzi is a world-reknown pediatric neurologist working at the Department of Neuropediatrics and Pediatric Psychology.

Michèl Willemsen

Michèl Willemsen

Scientific Board

Prof. Michèl Willemsen is practicing pediatric neurologist at Radboud University Medical Centre (Radboudumc), Nijmegen with expertise in: Neurology, Pediatrics and Clinical Chemistry.

Toni Pearson

Scientific Board

Dr. Pearson is a pediatric neurologist with specialty training in movement disorders. She obtained her medical degree from the University of Adelaide Medical School in Australia, and then pursued postgraduate residency and fellowship training in child neurology and movement disorders at Columbia University in New York. She is currently Associate Professor of Neurology at Washington University in St. Louis, where she directs the program for Pediatric Movement Disorders and Cerebral Palsy. Her research interests are pediatric neurotransmitter disorders, including the natural history of aromatic L-amino acid decarboxylase (AADC) deficiency, gene therapy for AADC deficiency, and the characterization of childhood movement disorder syndromes including dystonia and parkinsonism.

Roser Pons

Scientific Board

Dr. Roser Pons is Assistant Professor of Pediatric Neurology at the First Department of Pediatrics of the National and Kapodistrian University of Athens. Medical and Scientific Advisory Board of the Pediatric Neurotransmiter Disease Association and of the AADC Research trust. She works as pediatric neurologist and movement disorder specialist at the Children’s Hospital Agia Sofia where she is involved mainly in patient care of children with complex neurologic disorders including neurometabolic diseases, rare neurologic diseases and also cerebral palsy. She is involved in clinical research that is based on the collaboration with multiple disciplines including genetics, biochemistry, rehabilitation, pathology, neuroradiology and biomechanics. Her main research areas include the genetic basis of rare diseases associated with movement disorders.

Find a participating center

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Funding partners

“Science knows no country, because knowledge belongs to humanity, and is the torch which illuminates the world. Science is the highest personification of the nation because that nation will remain the first which carries the furthest the works of thought and intelligence.”

STIVE REYNOLDS, LEAD RESEARCHER

Discover The Future

We are highly interested in further collaboration partners throughout the world. Get in touch!