Pathophysiology of L-Dopa responsive Dystonia and other monogenetic disorders
- Registration Number
- DRKS00019110
- Lead Sponsor
- Zentrum für Kinder-und Jugendmedizin Heidelberg Sektion für Neuropädiatrie und Stoffwechselmedizin
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 50
• 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)
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 further monogenetic diseases
• Written informed consent given by the patient, the parents or the legal representatives
None
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Identification of molecular pathomechanisms using patient-specific inducible pluripotent stem cells and differentiated cell types (e.g. neurons, hepatocytes) and organoids using molecular biological and high throughput technologies.
- Secondary Outcome Measures
Name Time Method Clarification of the role of oxidative stress and cell death pathways involved in pathology and analysis of observed changes in differentiation in iPSCs. <br>Development of new therapies after identification of potential cellular target structures.