AADC deficiency – Patient Worthy

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Rare Community Profiles: Probably Genetic Offers No-Cost Genetic Testing for Rare Diseases: A Conversation with CEO Lukas Lange

Post author:Jessica Lynn
Post published:June 14, 2023
Post category:Rare Disease

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…

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Israeli Surgeons Administer Upstaza to Boy with AADC Deficiency

Post author:Jessica Lynn
Post published:April 14, 2023
Post category:AADC Deficiency

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…

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NICE Guidance Recommends Upstaza for AADC Deficiency

Post author:Jessica Lynn
Post published:March 31, 2023
Post category:AADC Deficiency Aromatic amino acid decarboxylase deficiency

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…

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After His Daughter was Treated for AADC Deficiency, This Father is Educating the Rare Community

Post author:James Moore
Post published:February 28, 2023
Post category:AADC Deficiency

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…

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AADC Deficiency: New Therapy Delivered Directly to the Brain Saved her Life

Post author:Rose Duesterwald
Post published:February 6, 2023
Post category:AADC Deficiency

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,…

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Will Gene Therapy Save These Children with Rare AADC Deficiency?

Post author:Rose Duesterwald
Post published:October 12, 2022
Post category:AADC Deficiency

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…

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Upstaza for AADC Deficiency Approved by EC

Post author:Jessica Lynn
Post published:July 26, 2022
Post category:Aromatic amino acid decarboxylase deficiency

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…

Patient Story: How I Became a Nurse to Help my Daughter with AADC Deficiency

Post author:Alyssa Stevens
Post published:June 22, 2022
Post category:Aromatic amino acid decarboxylase deficiency

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…

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PTC-AADC Shows Benefits for Patients with AADC Deficiency, Data Shows

Post author:Jessica Lynn
Post published:October 5, 2021
Post category:Aromatic amino acid decarboxylase deficiency

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…

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Study Illuminates Impact of Aromatic L-Amino Acid Decarboxylase Deficiency on Caregivers

Post author:Trudy Horsting
Post published:May 28, 2021
Post category:Aromatic amino acid decarboxylase deficiency

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.…

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Expanded Partnership Will Offer Genetic Testing for AADC Deficiency

Post author:Jessica Lynn
Post published:January 1, 2021
Post category:Aromatic amino acid decarboxylase deficiency

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…

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Dantrolene Effective for Muscle Problems in AADC Deficiency Children: Case Study

Post author:Patient Worthy Contributor
Post published:March 13, 2020
Post category:Aromatic amino acid decarboxylase deficiency Rare Disease

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…

Rare Community Profiles: Probably Genetic Offers No-Cost Genetic Testing for Rare Diseases: A Conversation with CEO Lukas Lange

Israeli Surgeons Administer Upstaza to Boy with AADC Deficiency

NICE Guidance Recommends Upstaza for AADC Deficiency

After His Daughter was Treated for AADC Deficiency, This Father is Educating the Rare Community

AADC Deficiency: New Therapy Delivered Directly to the Brain Saved her Life

Will Gene Therapy Save These Children with Rare AADC Deficiency?

Upstaza for AADC Deficiency Approved by EC

Patient Story: How I Became a Nurse to Help my Daughter with AADC Deficiency

PTC-AADC Shows Benefits for Patients with AADC Deficiency, Data Shows

Study Illuminates Impact of Aromatic L-Amino Acid Decarboxylase Deficiency on Caregivers

Expanded Partnership Will Offer Genetic Testing for AADC Deficiency

Dantrolene Effective for Muscle Problems in AADC Deficiency Children: Case Study

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