Welcome to REVEAL-CP:
Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Clinical Research Study


Currently enrolling people of all ages with symptoms of weak muscle tone (hypotonia), painful muscle stiffness, uncontrollable movement of the hands and legs, low blood pressure (hypotension), fainting, low blood sugar (hypoglycaemia), impaired sweating, abnormal weight gain, inability to regulate body temperature, vision problems (droopy eyelids and pupil constriction), developmental delay without any clinical or neuroradiological (MRI brain) evidence of cerebral palsy. This includes but is not limited to those with a current or previous diagnosis of cerebral palsy.

WHEN YOU OR YOUR CHILD HAS CLINICAL FEATURES SUGGESTIVE OF CEREBRAL PALSY THAT GO UNEXPLAINED, A RARE GENETIC DISORDER MAY BE THE CAUSE.

If you or your child has symptoms of weak muscle tone (hypotonia), painful muscle stiffness, uncontrollable movement of the hands and legs, low blood pressure (hypotension), fainting, low blood sugar (hypoglycaemia), impaired sweating, abnormal weight gain, inability to regulate body temperature, vision problems (droopy eyelids and pupil constriction), developmental delay without any clinical or neuroradiological (MRI brain) evidence of cerebral palsy, please consider our research study which may help identify a cause.

Who can take part in the REVEAL-CP Study?

You or your child may be eligible to take part in this research study if they:

• Have previous or current clinical features suggestive of cerebral palsy with no underlying cause found; this includes but is not limited to people with a current or previous diagnosis of cerebral palsy

• Are not taking carbidopa-levodopa

There are also additional requirements to participate. The staff at the study site will explain the other requirements in more detail.

To see if there is a study location near you, please click here.

Why is this Clinical Research Study Important?

The purpose of this study is to learn how many people with symptoms that look like cerebral palsy, but with no known reason for these symptoms, may actually have a rare genetic condition called Aromatic L-amino Acid Decarboxylase (AADC) deficiency.

Participants will receive diagnostic testing to determine whether their symptoms are caused by AADC deficiency. This diagnostic testing, which may include genetic analysis, is conducted through blood testing. This study does not involve any medicines or treatments.

AADC deficiency is a rare genetic disorder that affects the brain, causes abnormal muscle tone, and affects how a person develops. AADC deficiency may be the reason for a child's symptoms. There is no cure for AADC deficiency; however, there are some medicines that doctors use to help treat the symptoms of AADC deficiency.

Click here to learn more about this study.

Participating locations:



What is a Clinical Research Study?

A clinical trial or research study is generally considered to be a health-related research study in people that follows a pre-defined written protocol. REVEAL-CP is a screening study. This means that this study does not involve any medicines or treatments. However, people who join this study may learn if they have AADC deficiency through the testing being offered as part of this study.

Click here to learn more about clinical research.