As of the end of August 2020, CENTOGENE has collaborated with more than 40 pharmaceutical partners to develop solutions for patients with rare diseases. In a press release from late November, CENTOGENE announced an expanded partnership with pharmaceutical company PTC Therapeutics, Inc. (“PTC”) centered around aromatic L-amino acid decarboxylase (AADC) deficiency, an extremely rare genetic disorder affecting the central nervous system (CNS). Through this partnership, CENTOGENE and PTC will offer genetic testing and biomarker analysis to better identify and treat infants with AADC deficiency.
One of CENTOGENE’s main goals is to use clinical and genetic data to better support both the rare disease community and the physicians and pharmaceutical companies working to improve patient outcomes. In this expanded partnership, the duo will offer genetic testing and 3-O-Methyldopa (3-OMD) biomarker analytics to patients across Latin America, Europe, and the Middle East.
Additionally, these same services are available for REVEAL CP trial participants. The REVEAL CP study seeks to understand the relationship between AADC deficiency and idiopathic cerebral palsy. During the study, researchers will use CentoCard to screen participants for AADC deficiency. The CentoCard is a dried blood collection kit. Using this blood, researchers analyze 3-OMD levels. For those with heightened levels, further testing will evaluate AADC enzyme levels. Ultimately, the partnership hopes to improve early diagnosis and treatment for patients. Additionally, understanding this relationship can spur further treatment research moving forward.
Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
According to the National Organization of Rare Disorders (NORD), aromatic L-amino acid decarboxylase (AADC) deficiency is:
a very rare genetic disorder characterized by decreased activity of aromatic l-amino acid decarboxylase, an enzyme involved in the building (synthesis) of neurotransmitters (dopamine and serotonin), which are responsible for the communication between neurons in the nervous system.
Typically, DDC gene mutations cause AADC deficiency. Because this disorder is inherited in an autosomal recessive pattern, patients must receive one mutated gene from each parent. Normally, the DDC gene instructs on how to produce the AADC enzyme, which in turn helps to produce dopamine and serotonin. When not enough AADC enzyme is produced, this entire system is compromised, and the communication between the brain and organs interrupted. This disorder is so rare than only a few hundred people have ever been diagnosed.
Symptoms usually appear in early infancy, typically within the first few months following birth. These include:
- Developmental delays
- Low blood pressure and blood sugar
- Hypotonia (weak or low muscle tone)
- Alternately, in some cases, AADC deficiency may cause hypertonia, or increased muscle tone.
- Muscle pain and stiffness
- Sleep disturbances
- Abnormal weight gain
- Excessive sweating and salivation
- Drooping eyelids
- Involuntary hand and leg movements
- Irritability or other behavioral issues
- Diarrhea or constipation
- Failure to thrive
Unfortunately, this disorder is typically fatal during childhood.