DRKS00010150
Recruiting
未知
Investigation of the underlying pathomechanisms found in defects of the neurotransmitter, Pterine -, phenyl alanine, and 5-Methyltetrahydrofolate metabolism in induced pluripotent stem cells (iPSC) and derivatives - PaNeM
niversitätsklinikum Heidelberg0 sites50 target enrollmentMarch 10, 2016
Overview
- Phase
- 未知
- Intervention
- Not specified
- Conditions
- Not specified
- Sponsor
- niversitätsklinikum Heidelberg
- Enrollment
- 50
- 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 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
- Not provided
Outcomes
Primary Outcomes
Not specified
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