Patient Registry
About iNTD
Major aims of the study:
- To describe the natural history and outcome of the six neurotransmitter disorders, five BH4 deficiencies and two cerebral folate deficiencies
- Long-term organ-specific complications
- Survival rate
- Genotype/phenotype correlation
- Differences in the disease course relating to the genetic background / ethnic origin/ gender effects
- To describe and evaluate the efficacy and safety of current treatment strategies
- To compare the diagnosis, treatment and management of affected individuals in different European countries.
- To identify the major impact of a rare inherited disease for patients and their families regarding the quality of life, school education, professional career and social life
Patients with any of the following diseases could be included:
- 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 deficiency disorders
- 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-chaperon deficiencies
- DNAJC12 deficiency
- Patients with suspicious CSF results (suggesting neurotransmitter related disorder) without known diagnosis
Visits:
- Baseline visit (B): once at the beginning
- Regular visits (R1, 2, 3…): at least once yearly
- Fatal disease course visit (F): once in case of fatal disease course
Eligibility:
- Check inclusion/exclusion criteria
- Written informed consent
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