Rare Resolve for Rare Disease is a PTC education campaign aimed at raising awareness of aromatic l-amino acid decarboxylase (AADC) deficiency, and accelerating the recognition, referral and diagnosis of patients with this rare disease. The campaign objective is to educate, equip and motivate healthcare professionals (HCPs) such as pediatricians and neurologists, as well as parents / caregivers searching for a diagnosis.

While there is currently no cure for AADC deficiency, supportive therapies can be initiated upon diagnosis. PTC has submitted a Marketing Authorization Application (MAA) with the European Medicines Agency (EMA) for its gene therapy in AADC-d.

Rare Resolve for Rare Disease - The Challenge

PTC’s Therapeutic Area Lead, Global Gene Therapy Greg Fuest explains the unmet medical need that drove this initiative:

“Due to the rarity of the disease there is an overall lack of knowledge and awareness among the medical and patient communities.  AADC deficiency is among the most complicated of all neurotransmitter disorders, with symptoms that vary from child to child and can mimic many of the common symptoms attributed to a number of other conditions, such as Cerebral Palsy (CP) and epilepsy. Due to overlapping symptoms, HCPs may not recognize AADC-d and not request a genetic test or screening.

“This results in delayed diagnosis and misdiagnosis which is evident by the wide age range at diagnosis from two months to 23 years old. Patients and their loved ones spend years searching for a diagnosis or living with a misdiagnosis, sadly in some cases a correct diagnosis is never reached.

“Furthermore, Initial testing for AADC deficiency has previously typically involved an analysis of cerebrospinal fluid, taken via a lumbar puncture, also known as a spinal tap. A procedure that is invasive, painful and can cause problems post-administration.”

PTC invested in this initiative to address the lack of awareness and education gaps among key stakeholders in order to accelerate recognition, referral and diagnosis of AADC deficiency. Rare Resolve for Rare Disease includes:

  • Educational websites for HCPs, AADCInsights.com, and for caregivers, AboutAADC.com – both reaching over 25,000 visitors, to date
  • Masterclass webinars led by neurology and gene therapy experts, educating more than 400 HCPs from over 27 countries
  • PTC’s global Diagnostics program offering no-cost genetic testing for HCPs to test patients suspected of AADC deficiency (learn more about PINPOINT genetic testing online)
  • Social media outreach to HCPs and caregivers with disease awareness and resource sharing

Rare Resolve for Rare Disease was a finalist for both the Reuters Events Pharma Europe 2020 award, and the Reuters Events Pharma USA 2020 award. PTC is pleased to sponsor ongoing AADC deficiency disease awareness initiatives.

Congratulations to our award winner, Well Child for Life, and our other finalists in Europe: