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

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

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

DRKS

Registry ID

DRKS00010150

Enrollment

Registered

2016-03-10

Start date

2016-02-10

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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 Autosomal recessive GTP cyclohydrolase deficiency Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease) 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency Dihydropteridine reductase (DHPR) deficiency Sepiapterin re

Interventions

Group 1: Arm 1: Single drawl of maximum 10 ml of blood or skin biopsy. No follow-up required

Eligibility

Sex/Gender

All

Inclusion 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) 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

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
Identification of molecular pathomechanism by using patient-specific inducible pluripotent stem cells and of differentiated cell types (neurons, hepatocytes	—

Secondary

Measure	Time frame
Development of novel therapies after the identification of new therapeutic target structures in the cell.	—

Countries

Germany

Contacts

Public ContactThomas Opladen

Zentrum für Kinder-und Jugendmedizin HeidelbergSektion für Neuropädiatrie und Stoffwechselmedizin

Thomas.opladen@med.uni-heidelberg.de06221 5638909

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026