Trial document





This trial has been registered retrospectively.
drksid header

  DRKS00007878

Trial Description

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Title

iNTD (International Network on Neurotransmitter related Disorders) Registry

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Trial Acronym

iNTD

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URL of the Trial

http://intd-online.org/

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Brief Summary in Lay Language

Neurotransmitters are a group of chemical messengers that enable the communication between the neurons in the syntactical cleft. For biosynthesis of the biogenic amines dopamine and serotonin, tetrahydrobiopterin (BH4) is an essential cofactor. Folates are chemically similar to BH4 and play a key role in different processes oft the central nervous system. Serine and glycine have functions in the brain such as building blocks of other brain molecules or a role in neurotransmission. Gamma-Aminobutyric acid (GABA) is one of the mayor inhibiting neurotransmitters. Inborn neurotransmitters related diseases belong to the treatable rare diseases, with clinical manifestation during childhood. Some of the patients can be identified by newborn screening due to a hyperphenylalaninemia. For neurotransmitter patients, systematic evaluation of the clinical presentation, the diagnostic and therapeutic procedures and prognosis are scare. Furthermore an evaluation of the different treatment options and their influence on the prognosis of the disease don’t exist so far.
The major aim of the iNTD study is to establish the first international patient register for neurotransmitter related disorders. This register will enable detailed analysis of the natural courses of the disease, the diagnostic approaches and the current therapy strategies as well as the quality of life of the affected patients. Besides the extension of the knowledge of these diseases the evaluation of the patient register should contribute to a better treatment and long term diagnosis of the patients.

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Brief Summary in Scientific Language

The European registry and network for International Network on neurotransmitter related disorders (iNTD) evaluates the natural history, the diagnostic and therapeutic procedures as well as their influence on the prognosis of the disorders. Clinically, patients with inborn neurotransmitter related disorders present with specific symptoms for the underlying defect. Never the less psycomotoric retardation, muscular hypotonia, extrapyramidal movement disorders, epilepsy and oculogyric crisis are prevalent in all disorders.
Due to the rarity of single diseases (only around 1000 patients known worldwide) there is a lack of knowledge on the natural history, long-term outcome, treatability and quality of life of patients. Diagnostic and therapeutic strategies vary significantly, and recommendations are based on a low level of evidence. This results in inequalities and inequities for patients with these rare diseases.
iNTD will established an international reference network for patients with neurotransmitter related disorders involving a consortium of 10 partners in 8 countries. This network proposes to improve the knowledge on patients with neurotransmitter related disorders by setting up an international non-interventional clinical database. Pseudonymized personal data with medical history, clinical, anthropometrical, biochemical, therapeutic, neuropsychological and neuroradiological parameters and results of quality of life questionnaires will be collected systematically during regular follow-up visits of these patients in their treating centres. Patient information and consent will follow the practices and regulations relevant to the country in which each research site is located. Pseudonomyzied data will be entered into a secure web-base protocol to a server of the University Hospital Heidelberg, the coordinating centre of iNTD. Once all records have been reviewed, the datasets will be merged and analysed.

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Organizational Data

  •   DRKS00007878
  •   2015/03/06
  •   2015/03/05
  •   yes
  •   No approval required according to EC
  •   S-471/2014 , Ethik-Kommission I der Medizinischen Fakultät Heidelberg
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Secondary IDs

  • [---]*
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Health Condition or Problem studied

  •   G24.8 -  Other dystonia
  •   G90.8 -  Other disorders of autonomic nervous system
  •   G31.8 -  Other specified degenerative diseases of nervous system
  •   G24.1 -  Idiopathic familial dystonia
  •   E70.8 -  Other disorders of aromatic amino-acid metabolism
  •   E70.1 -  Other hyperphenylalaninaemias
  •   D52.8 -  Other folate deficiency anaemias
  •   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
  •   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
  •   Folate receptor alpha (FOLR1) deficiency
  •   Dihydrofolate reductase (DHFR) deficiency
  •   3-phosphoserine phosphatase (3-PSP) deficiency
  •   3-phosphoglycerate dehydrogenase (3-PGDH) deficiency
  •   Phosphoserine aminotransferase deficiency
  •   Glycine encephalopathy, also known as Non-ketotic hyperglycinaemia
  •   GABA-transaminase-deficiency
  •   Succinate-semialdehyde-dehydroxylase deficiency
  •   suspicious CSF results (suggesting neurotransmitter related disorder) without known diagnosis
  •   E72.8 -  Other specified disorders of amino-acid metabolism
  •   DNAJC12 Deficiency
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Interventions/Observational Groups

  •   Assessment of the clinical history and relevant laboratory-chemical, therapeutic, instrumental and neuropsychological parameters by the study centers. Data collection takes place within the framework of elective outpatient visits. The collected parameters are congruent with the current standard investigations. There will be no extra parameters assessed.
    Quality of life questionnaires will be used (WHOQOL, PedsQL).
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Characteristics

  •   Non-interventional
  •   Observational study
  •   Single arm study
  •   Open (masking not used)
  •   [---]*
  •   Uncontrolled/Single arm
  •   Other
  •   Single (group)
  •   N/A
  •   N/A
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Primary Outcome

1. Description of the clinical phenotype of the participants with neurotransmitter, folate and pterin disorders
• Manifestations of the first symptoms: Age and clinical description
• Development of the long-term follow up
• Survival rate
2. Description of variations of the disease courses
3. Description of a genotype/phenotype correlation


Data will be collected with questionnaires completed by the physicians or the patients

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Secondary Outcome

1. Which discrepancies exist internationally regarding diagnosis, treatment and long-term management of these patients?
2. How do these rare diseases affect the quality of life of patients and their families?


Quality of life questionnaires will be used (WHOQOL, PedsQL).

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Countries of Recruitment

  •   Germany
  •   Spain
  •   Italy
  •   Austria
  •   Greece
  •   Canada
  •   United States
  •   Netherlands
  •   Czech Republic
  •   Norway
  •   Poland
  •   Taiwan, Province of China
  •   China
  •   Japan
  •   Singapore
  •   Turkey
  •   Serbia
  •   France
  •   United Kingdom
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Locations of Recruitment

  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • Medical Center 
  • Medical Center 
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Recruitment

  •   Actual
  •   2015/01/16
  •   250
  •   Multicenter trial
  •   International
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Inclusion Criteria

  •   Both, male and female
  •   no minimum age
  •   no maximum age
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Additional Inclusion Criteria

• Children and adults with confirmed diagnosis of Neurotransmitter (biogenic amines) disorders
o Aromatic amino acid decarboxylase (AADC) deficiency
o Tyrosine hydroxylase (TH) deficiency
o Dopamine beta-hydroxylase (DßH) deficiency
o Monoamine oxidase A (MAOA) deficiency
o Dopamine transporter (DAT) deficiency
o Vesicular monoamine transporter 2 (VMAT) deficiency

• Children and adults with confirmed diagnosis of BH4 Deficiencies
o Autosomal rezessive GTP cyclohydrolase deficiency
o Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease)
o 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency
o Dihydropteridine reductase (DHPR) deficiency
o Sepiapterin reductase (SR) deficiency

• Children and adults with confirmed diagnosis of cerebral folate deficiencies:
o Folate receptor alpha (FOLR1) deficiency
o Dihydrofolate reductase (DHFR) deficiency

• Children and adults with confirmed diagnosis of serine deficiency disorders:
o 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency
o 3-phosphoserine phosphatase (3-PSP) deficiency
o Phosphoserine aminotransferase deficiency

• Children and adults with confirmed diagnosis of disorders of glycine metabolism:
o Glycine encephalopathy (Non-ketotic hyperglycinaemia)

• Children and adults with confirmed diagnosis of GABA related disorders
o GABA-transaminase-deficiency
o Succinate-semialdehyde-dehydroxylase deficiency

• Children and adults with suspicious CSF results (suggesting neurotransmitter related disorder) without known diagnosis


• Written informed consent given by the patient, the parents or the legal representatives

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Exclusion Criteria

• Individuals with rare and unrelated serious comorbidities:
o Down Syndrome
o Intraventricular haemorrhage (°III-IV)
o Extreme low birth weight (<1,500 grams)
o Severe hyperbilirubinemia with Kernikterus,
o Embryo fetal alcohol syndrome
o Intake of teratogen drugs during pregnancy

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Addresses

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    • Universitätsklinikum Heidelberg
    • Im Neuenheimer Feld 672
    • 69120  Heidelberg
    • Germany
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    • University of Alberta, Devision of Pediatric Neurology
    • Ms.  Dr.  Helly  Goez 
    • 11405-87 Avenue AB
    • T6G 1C9  Edmonton
    • Canada
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    • Zentrum für Kinder-und Jugendmedizin HeidelbergSektion für Neuropädiatrie und Stoffwechselmedizin
    • Mr.  PD Dr.  Thomas  Opladen 
    • Im Neuenheimer Feld 669
    • 69120  Heidelberg
    • Germany
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    • Neurology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu,
    • Ms.  Dr  Ángels  Garcia Cazorla 
    • Passeig Sant Joan de Déu 2
    • 08950  Esplugues de Llobregat, Barcelona
    • Spain
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    • Zentrum für Kinder-und Jugendmedizin HeidelbergSektion für Neuropädiatrie und Stoffwechselmedizin
    • Mr.  PD Dr.  Thomas  Opladen 
    • Im Neuenheimer Feld 669
    • 69120  Heidelberg
    • Germany
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    • Neurology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu
    • Ms.  Dr  Àngels  Garcia Cazorla 
    • Passeig Sant Joan de Déu 2
    • 08950  Esplugues de Llobregat, Barcelona
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    • Hospital Universitario Reina Sofía Pediatrics (Pediatric Neurology)
    • Mr.  Dr.  Eduardo  Lopez Laso 
    • Avda. Menendez Pidal s / n
    • 14004  Córdoba
    • Spain
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    • Sapienza University of Rome, Department of Child Neurology and Psychiatry/ Department of Experimental Medicine
    • Mr.  Prof. Dr.  Vincenzo  Leuzzi 
    • Via dei Sabelli 108
    • 00185  Roma
    • Italy
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    • Universitätsklinik für Pädiatrie ITilak – Tiroler Landeskrankenanstalten GmbH
    • Ms.  PD Dr.  Sabine  Scholl-Bürgi 
    • Anichstr. 35
    • 6020  Innsbruck
    • Austria
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    • Aghia Sophia Children’s Hospital, First Department of Pediatrics, University of Athens
    • Ms.  Dr.  Roser  Pons 
    • Thebes & Papadiamantopoulou
    • 115 27  Goudi Athens
    • Greece
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    • BC Childrens Hospital, Division of biochemical diseases, ACB Room K3-205
    • Ms.  Dr.  Gabriella  Horvath 
    • 4480 Oak Street
    • V6H3V4  Vancouver
    • Canada
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    • Mount Sinai Hospital
    • Ms.  Dr.  Toni  Pearson 
    • 5 East 98th Street
    • NY 10029  New York
    • United States
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    • Radboud University Medical Center, Departments of Neurology & Laboratory Medicine
    • Ms.  Dr.  Tessa  Wassenberg 
    • Comeniuslaan 4
    • 6525 HP  Nijmegen
    • Netherlands
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    • Division of Inherited Metabolic Diseases Reference Centre Expanded Newborn Screening Department of Pediatrics University Hospital
    • Mr.  Prof  Alberto  Burlina 
    • Via Orus 2/B
    • 35128  Padova
    • Italy
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    • Charles University and General University Hospital, Dep. of Pediatrics
    • Mr.  Prof. Dr.  Jiri  Zeman 
    • Ovocný trh 3-5
    • 11636  Prague
    • Czech Republic
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    • Klinik für Kinder- und Jugendmedizinder Ruhr-Universität Bochum im St. Josef-Hospital
    • Mr.  Prof  Thomas  Lücke 
    • Alexandrinenstraße 5
    • 44791  Bochum
    • Germany
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    • Drammen HospitalVestre Viken Health Trust
    • Ms.  Dr.  Jeanette  Koht 
    • Dronningg 28
    • 3004  Drammen
    • Norway
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    • Universitätskinderklinik im St. Josef HospitalRuhr- Universität Bochum
    • Mr.  Prof. Dr.  Thomas  Lück 
    • Alexandrinenstraße 5
    • 44791  Bochum
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    • Rady Children's Hospital San Diego
    • Ms.  Prof. Dr.  Jennifer  Friedman 
    • 8010 Frost St. Suite 400
    • CA 92123  San Diego
    • United States
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    • Charité-Universitätsmedizin Berlin, CVKKinderklinik, Sozialpädiatrisches Zentrum
    • Ms.  Dr.  Natalie  Weinhold 
    • Augustenburger Platz 1
    • 13353  Berlin
    • Germany
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    • Aristotle University of Thessaloniki1st Department of Pediatrics
    • Mr.  Pof. Dr.  Dimitrios  Zafeiriou 
    • Egnatia St. 106
    • 54622  Thessaloniki
    • Greece
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    • Instytut Matki i Dziecka
    • Ms.  Prof. Dr.  Jolanta  Sykut-Cegielska 
    • Kasprzaka 17A
    • 01-211  Warsaw
    • Poland
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    • National Taiwan University Children´s HospitalDepartment of Pediatric Neurology
    • Mr.  Dr.  Wang-Tso  Lee 
    • Chung Shan S. Rd. Zhongzheng Dist.
    • 10041  Taipei City
    • Taiwan, Province of China
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    • Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital
    • Mr.  Dr.  Cheuk-Wing  Fung 
    • 102 Pokfulam
    • Hong Kong
    • China
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    • Taichung Veterans General Hospital, Department of Pediatrics
    • Mr.  Dr. Dr.  Hsiu-Fen  Lee 
    • 1650, Sec. 4, Taiwan Boulevard
    • 40705  Taichung
    • Taiwan, Province of China
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    • Hosp.Univ. Virgen del Rocío/CSIC/Univ. de Sevilla
    • Mr.  Dr.  Pablo  Mir 
    • Avda. Manuel Siurot s/n
    • 41013  Sevilla
    • Spain
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    • Showa University School of Medicine, Department of Pediatrics
    • Mr.  Dr. Dr.  Mitsuhiro  Kato 
    • 1-5-8 Hatanodai
    • 142-8666  Tokyo
    • Japan
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    • National University of Singapore
    • Ms.  Dr.  Stacy  Tay Kiat Hong 
    • 21 Lower Kent Ridge Road
    • 119077  Singapore
    • Singapore
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    • Universitätsklinikum Hamburg-Eppendorf,Klinik und Poliklinik für Kinder- und Jugendmedizin
    • Mr.  PD Dr.  Chris  Mühlhausen 
    • Martinistraße 52
    • 20246  Hamburg
    • Germany
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    • Biochemical Genetics Fellowship Program DirectorDivision of Clinical and Metabolic GeneticsDepartment of Pediatrics, University of TorontoThe Hospital for Sick Children
    • Mr.  Dr. Dr.  Saadet  Mahmutoglu 
    • 555 University Avenue
    • ON M5G1X8  Toronto
    • Canada
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    • Istanbul Üniversitesi Merkez KampüsüIstanbul Faculty of Medicine
    • Ms.  Prof. Dr.  Zuhal  Yapici 
    • Beyazıt
    • 34452  Istanbul
    • Turkey
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    • Hacettepe University IhsanDogramaci Children's HospitalPediatric Metabolic Diseases Unit
    • Ms.  Dr.  Serap  Sivri 
    • Hacettepe Mh.
    • 06230  Ankara
    • Turkey
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    • Clinic for Neurology and Psychiatry for Children and Youth
    • Ms.  Dr.  Galina  Stevanović 
    • Dr Subotića 6a str
    • Belgrade
    • Serbia
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    • CHU de NantesCentre de Compétence Maladies héréditaires du métabolismeService de Réanimation pédiatrique
    • Ms.  Dr.  Alice  Kuster 
    • 38, Bd Jean Monnet
    • 44093  Nantes
    • France
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    • Department of Pediatrics, University of Torino
    • Mr.  Dr. Dr.  Francesco  Porta 
    • Piazza Polonia 94
    • 10126  Torino
    • Italy
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    • Klinikum Dritter Orden München
    • Mr.  Prof.Dr.  Jochen  Peters 
    • Menzinger Straße 44
    • 80638  München
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    • LHSC- Victoria Hospital Genetics, Metabolism and Paediatrics
    • Ms.  Prof. Dr.  Chitra  Prasad 
    • 800 Commissioners Road East
    • N6C 2V5  London/ Ontario
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    • Great Ormond Street Hospital
    • Ms.  Prof. Dr.  Manju  Kurian 
    • Great Ormond Street
    • WC1N 3JH  London
    • United Kingdom
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Sources of Monetary or Material Support

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    • Dietmar Hopp Stiftung gGmbH
    • Ms.  Katrin  Tönshoff 
    • Raiffeisenstraße 51
    • 68789  St. Leon-Rot
    • Germany
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Status

  •   Recruiting ongoing
  •   [---]*
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Trial Publications, Results and other Documents

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* This entry means the parameter is not applicable or has not been set.