Prevalence of AADCd in Patients with Cerebral Palsy of Unknown Cause
Research type
Research Study
Full title
PREVALENCE OF AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY IN CEREBRAL PALSY PATIENTS WITH UNKNOWN ETIOLOGY
IRAS ID
274582
Contact name
Vasantha Gowda
Contact email
Sponsor organisation
PTC Therapeutics Inc
Duration of Study in the UK
1 years, 6 months, 0 days
Research summary
The objective of the study is to determine how common aromatic L-amino acid decarboxylase (AADC) deficiency is (the “prevalence”) in patients with cerebral palsy (CP) where the cause of these symptoms is not known. The study will also aim to describe the clinical characteristics/symptoms in patients with CP symptoms of unknown cause determined to have AADC deficiency and for those who do not have AADC deficiency.
Patients with CP symptoms of unknown cause, who meet the inclusion/exclusion criteria, will be tested for AADC deficiency.
At the first clinic visit (Visit 1), blood will be drawn for evaluation of 3-O-methyldopa (3-OMD) levels in the blood. Patients with high levels of 3-OMD may have AADC deficiency and further confirmatory tests would be required. These patients will be further tested to assess:
1. Decreased levels of AADC enzyme activity
2. Presence of a change in the DOPA decarboxylase (DDC) geneAll patients with abnormally high levels of 3-OMD will return to the clinic for a second blood draw (Visit 2), for testing of the AADC enzyme activity to confirm the diagnosis. Low AADC enzyme activity and the presence of a pathogenic change in the DDC gene would be diagnostic for the patient having AADC deficiency.
If a change is not identified in the DDC gene, then 2 additional genes, PNPO and PROSC genes, will be tested.
Baseline patient demographic and medical history data for all patients to be tested will be recorded on a case report form.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
20/LO/0597
Date of REC Opinion
29 Jul 2020
REC opinion
Further Information Favourable Opinion