Information for Patients and Parents

We want to help you to learn more about your or your child’s disease. Here you can find comprehensive information about the iNTD study, the diseases we research and the overall project of our goals. We want you to have the help you need, therefore, you can find an overview of parental organizations that might help you.
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Cases in our registry
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Clinical and Scientific Centers Worldwide
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Different Countries

The aim of iNTD study is to record and evaluate the diagnostic procedures required to make the final diagnosis, the therapy that is currently being given, and the course of the disorders. The results of the study shall be used to give physicians a better understanding of the progression of the disorder, of the clinical symptoms, of the incidence of complications, and of the impact that the disorder makes on the quality of life of the patients and their families. In addition, we shall also assess the clinical course and the prognosis of the disorders over the long term.
The study is based on routine examinations that are as a rule carried out during outpatient appointments and stays at the clinic and shall not involve an extra investment of time on your part. In the course of this study, we shall record data on the progression of your disorder, the treatment, the changes in laboratory values measured in the blood, the cranial nerve liquor, and the urine, the results of technical investigations, and those of developmental tests. These data shall be collected in a central patient register. Wherever magnetic-resonance tomography investigations are carried out, the results shall also be recorded in the register.

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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.

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.

 AADC Research Trust

Charity Organisation that helps children and their families affected by Aromatic Amino Acid Decarboxylase Deficiency (AADC)   http://aadcresearch.org/

DeNeu  

Spanish patient organization for families affected with neurotransmitter related disorders   http://www.deneu.org/index.php/home

Proyectopol

Organization from Spain for patients and families with Non-ketotic hyperglycinaemia (NKH)   http://www.proyectopol.com/

DIG PKU: Fachgruppe Neurotransmitterstörungen 

German group for patients and parents with all kinds of neurotransmitter related disorders https://www.dig-pku.de/wcf/index.php?neurotransmitterstoerungen-nts/

SSADH Association: Succinic Semialdehyde Dehydrogenase Deficiency Association

Association for SSADH deficiency affected individuals https://www.ssadh.net/

SSADH-Defizit e.V.: Verein für die seltene Stoffwechselerkrankung des GABA-Neurotransmitterweges 

Association for SSADH deficiency affected persons from Germany  https://ssadh.wordpress.com/

Hrabrisa

Organization to support families with children suffering from neurotransmitter diseases, dopa-responsive dystonia and other neurometabolic disorders from Serbia http://www.hrabrisa.rs/en/

Pediatric Neurotransmitter Disease Association (PND)  

Organization for children and families who are affected by pediatric neurotransmitter diseases   http://pndassoc.org/

Children Living with Inherited Metabolic Diseases  

Patient organization for inherited metabolic diseases.   http://www.climb.org.uk/

Rare Diseases Europe (EURODIS)  

Alliance of rare disease patient organizations    http://www.eurordis.org/

iNTD Families 

Facebook Group where patients with neurotransmitters related disorders and their families can meet and exchange their experiences:

https://www.facebook.com/groups/980717281996184