iNTD (International Network on Neurotransmitter related Disorders) Registry

Recruiting

• Registration Number: DRKS00007878
• Lead Sponsor: niversitätsklinikum Heidelberg

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2015-03-06
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 500

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)
o 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency
o Dihydropteridine reductase (DHPR) deficiency
o Sepiapterin reductase (SR) deficiency
o Pterin-4a-carbinolamine dehydratase (PCD) 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 confirmed diagnosis of serine deficiency disorders:
o 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency
o 3-phosphoserine phosphatase (3-PSP) deficiency
o Phosphoserine aminotransferase deficiency

• Children and adults with confirmed diagnosis of disorders of glycine metabolism:
o Glycine encephalopathy (Non-ketotic hyperglycinaemia)

• Children and adults with confirmed diagnosis of GABA related disorders
o GABA-transaminase-deficiency
o Succinate-semialdehyde-dehydroxylase deficiency

• Children and adults with suspicious CSF results (suggesting neurotransmitter related disorder) without known diagnosis

• Written informed consent given by the patient, the parents or the legal representatives

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

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
1.Description of the clinical phenotype of the participants with neurotransmitter, folate and pterin disorders <br>•Manifestations of the first symptoms: Age and clinical description <br>•Development of the long-term follow up<br>•Survival rate<br>2.Description of variations of the disease courses <br>3.Description of a genotype/phenotype correlation<br>4.Description of the procedures associated with AADC gene therapy as well as the outcome of AADC gene therapy<br>5.Description of the course and the outcome of pregnancies from women with neurotransmitter related disorders until they can walk and speak at least 50 words.<br><br>Data will be collected with questionnaires completed by the physicians or the patients

Secondary Outcome Measures

Name	Time	Method
1.Which discrepancies exist internationally regarding diagnosis, treatment and long-term management of these patients?<br>2.How do these rare diseases affect the quality of life of patients and their families?<br><br><br>Quality of life questionnaires will be used (WHOQOL, PedsQL).