DRKS00007878
Recruiting
Not Applicable
iNTD (International Network on Neurotransmitter related Disorders) Registry - iNTD
niversitätsklinikum Heidelberg0 sites500 target enrollmentMarch 6, 2015
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Not specified
- Sponsor
- niversitätsklinikum Heidelberg
- Enrollment
- 500
- Status
- Recruiting
- Last Updated
- last year
Overview
Brief Summary
No summary available.
Investigators
Eligibility Criteria
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)
Exclusion Criteria
- •Individuals with rare and unrelated serious comorbidities:
- •o Down Syndrome
- •o Intraventricular haemorrhage (°III\-IV)
- •o Severe hyperbilirubinemia with Kernikterus,
- •o Embryo fetal alcohol syndrome
- •o Intake of teratogen drugs during pregnancy
Outcomes
Primary Outcomes
Not specified
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