Aromatic L-amino Acid Decarboxylase DeficiencyNCT02399761
Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
An observational study of Aromatic L-amino Acid Decarboxylase Deficiency, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. Read more about this study
- Who is it for?
- Ages Up to 3 monthsHealthy volunteers can take part
- Conditions the study is for
- Aromatic L-amino Acid Decarboxylase Deficiency
- How many people
- 154,795 participants
- Where
- 1 siteTaiwan
- Study dates
- Aug 2012to Jul 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 3 months
- All sexes
- Healthy volunteers accepted
- Child
Study population: newborns whose parents agree to be tested
Who may be able to join
- Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
- Parents or Legal Guardian sign in the informed consent form.
Who cannot join
- Parents or Legal Guardian do not agree to sign in the informed consent form.
Trial locations and contacts
1 site in 1 country.
About this study
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.
Read the detailed description
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. The routine newborn screening dried blood spots sample will be used to test if 3-O-methyldopa (3-OMD) concentration elevates. If positive of screening test, further confirmation tests including physical examination and for mutation. Genetic counseling and treatment option will be provided, too.
- Keywords
- AADC deficiency, newborn screening
- Medical subject headings
- Aromatic amino acid decarboxylase deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of newborns with AADC deficiency
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Mar 2015 (estimated)
- Study startAug 2012
- Primary completionJul 2016
- Study completionJul 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Aromatic L-amino Acid Decarboxylase DeficiencyStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 154,795 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02399761
- Sponsor's protocol ID
- 201205084RIC
- Status last verified
- Oct 2016
- First submitted
- 21 Mar 2015
- Last updated
- 28 Apr 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Apr 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
- ClinicalTrials.gov ID
- NCT02399761
- Acronym / sponsor ID
- 201205084RIC
- Keywords
- AADC deficiency, newborn screening
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 154,795 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- Aug 2012
- Primary completion
- Jul 2016 (actual)
- Study completion
- Jul 2016 (actual)
- First posted
- 26 Mar 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.
Detailed description
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. The routine newborn screening dried blood spots sample will be used to test if 3-O-methyldopa (3-OMD) concentration elevates. If positive of screening test, further confirmation tests including physical examination and for mutation. Genetic counseling and treatment option will be provided, too.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 3 months
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- newborns whose parents agree to be tested
Key inclusion criteria (2 listed)
- Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
- Parents or Legal Guardian sign in the informed consent form.
Key exclusion criteria (1 listed)
- Parents or Legal Guardian do not agree to sign in the informed consent form.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of newborns with AADC deficiency
Time frame: 3 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Apr 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Aromatic L-amino Acid Decarboxylase Deficiency, run by National Taiwan University Hospital at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Apr 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of newborns with AADC deficiency (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Apr 2017.