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Living with AADC Deficiency – Meet the Heger Family

December 8, 2021

  1. Living with AADC Deficiency – Meet the Heger Family

    Kelly Heger went back to school and trained as a nurse after her daughter Jillian was diagnosed with AADC deficiency (AADCd), a rare fatal pediatric disorder, over 26 years ago. Kelly was determined to understand the complicated medical language used by her daughter’s doctors and to play a pivotal role in the round-the-clock medical care…

  2. Our Commitment to the Rare Disease Community

    PTC was founded in 1998 by a scientist with a desire to serve patients with rare diseases and unmet medical needs. Over the course of our history, we have grown to a team of more than a thousand employees and developed new innovative therapies. However, we’ve always maintained our foundational commitment to our patients and…

  3. News About PTC Gene Therapy Published by the European Molecular Biology Organization (EMBO)

    PTC is excited to announce the publication of “Gene therapy in the putamen for curing AADC deficiency and Parkinson’s disease” in the EMBO Molecular Medicine journal online with open access. Read the Article Featuring collaboration from medical experts Paul Wuh-Liang Hwu, Karl Kiening, lrina Anselm, David R. Compton, Takeshi Nakajima, Thomas Opladen, Phillip L. Pearl,…

  4. A Letter to the AADC Deficiency Community

    Dear AADC deficiency community, For more than 20 years it has been our mission to bring life-changing medicines to patients with rare disorders. In these challenging times, we are even more committed to ensuring that patients have access to safe and effective treatments. PTC-AADC is an investigational, one-time gene replacement therapy that, if approved, will…

  5. AADC Deficiency Awareness Day 2021

    Watch the October 22, 2021 Facebook LIVE Broadcast of AADC Deficiency Awareness Day In 2020, the AADC Family Network, in collaboration with PTC Therapeutics, MassBio and Boston Children’s Hospital, observed the first AADC Deficiency Awareness Day. AADC stands for aromatic L-amino decarboxylase – and AADC deficiency is a rare disease that affects the brain and…

  6. Gene Therapy: A New Paradigm in Rare Diseases

    This article has been extracted from the special “Grand Angle dossier” on rare diseases, produced by CommEdition, published in Le Monde on 27 February 2021. It has been translated to English (below). You can also download the original French publication from this webpage. The emergence of a new generation of treatments in biotechnology has aroused…

  7. Asked and Answered: People with Disabilities Speak Up

    “It is hard for me to give hugs as I cannot raise my arms. However, my mom picks them up and hugs me.” – Teenager with Duchenne muscular dystrophy In 1992, the United Nations designated December 3rd as International Day of Disabled Persons (also known as International Day of Persons with Disabilities, International Day of…

  8. Advancing Diagnosis of AADC Deficiency

    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…

  9. AADC Deficiency Awareness Day

    The debilitating rare genetic disorder aromatic l-amino acid decarboxylase (or AADC, for short) deficiency is the focus of the first AADC Deficiency Awareness Day in the State of Massachusetts, United States on October 23, 2020. This official designation will help enable parents and caregivers, patient advocacy groups, legislators, and gene therapy experts to raise awareness,…

  10. Our CEO Has Big Plans

    PTC founder and Chief Executive Officer, Stuart Peltz, Ph.D., was recently the subject of a MassBio profile. When asked about the future of PTC, he had this to say: PTC has been growing rapidly over the last two years and we will continue to grow and expand in the upcoming year. We plan to launch…