Editor's Note: Patient Worthy is honored to share this story, submitted to us by Richard Poulin III. Late one night, a seemingly ordinary Facebook post changed the course of our…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
Children all across the globe enrolled in a study to evaluate Upstaza, a gene therapy medication, for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. As part of their…
In November 2022, the UK's Medicines and Healthcare Products Regulatory Agency (MHRA) approved Upstaza (eladocagene exuparvovec) for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. The product, which…
When Richard Poulin's daughter Rylae-Ann was born, it wasn't long before he and his wife began to wonder if something was wrong. They both felt confident in understanding the…
When Rylae-Ann was one year old, her parents had to hold her in an upright position at night in order for her to breathe. Rylae-Ann had a rare genetic disease,…
The young patients began laughing, and some even began to speak and walk. Imagine the excitement among the hospital staff when they realized that a new medication brought about…
For months, those within the rare disease community have been watching to see whether Upstaza (eladocagene exuparvovec) would be approved for use within the European Union. In fact, in…
Kelly Heger, founder of the AADC Family Network, shares her story of becoming a nurse to take care of her daughter with AADC deficiency. When my daughter, Jillian, was born…
Recently, biopharmaceutical company PTC Therapeutics, Inc. performed a five-year data analysis to evaluate the continued safety, efficacy, and tolerability of PTC-AADC. The company developed this novel gene therapy to improve…
PTC Therapeutics has just announced data from the very first study which examined how taking care of a child diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency can impact caregivers.…
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…
By Jodee Redmond from In The Cloud Copy The results of a case study have found that dantrolene can be used to treat involuntary muscle contractions (dystonia) in children with…
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