Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review

Buesch, K.; Zhang, Rongrong; Szczepańska, Katarzyna; Veličković, Vladica; Turner, Lucy; Despotovia, Milena; Đorđević, Biljana; Russell, Alexis

doi:10.1080/03007995.2022.2072090

Cited by 4 publications

(5 citation statements)

References 56 publications

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“…Patients with AADC deficiency have little to no functional motor movement and never meet developmental milestones. Given the nature of AADC deficiency, patients have the need for lifelong care and are at a high risk of early death in the first decade of life [ 1 , 4 – 6 ].…”

Section: Introductionmentioning

confidence: 99%

“…These best supportive care (BSC) treatments may alleviate selected symptoms, but do not fundamentally restore levels of the key neurotransmitter dopamine to adequately improve motor function and achieve developmental milestones [ 1 , 2 ]. Given the substantial impact of the disease on patient and caregiver quality of life and, ultimately, survival, novel therapies such as eladocagene exuparvovec were urgently needed with the aim to address this unmet medical need [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

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Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic l-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study

Simons,

Hwu,

Zhang

et al. 2023

Adv Ther

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Introduction Aromatic l -amino acid decarboxylase (AADC) deficiency is a rare disease with symptoms including movement disorders, developmental delays, and autonomic symptoms starting from birth; further, patients with AADC deficiency are at a high risk of death in the first decade of life. Limited information on the impact of treatment with gene therapy on patients’ disease trajectories and survival, quality-of-life, and resource usage benefits are available. Method A cohort-based model with a lifetime horizon has been developed, based on motor milestones, to estimate the long-term benefits for patients after treatment with eladocagene exuparvovec compared to best supportive care (BSC). The model takes a National Health Service (NHS) perspective using a UK setting. The model comprises two parts: the developmental phase, in which patients with initially no motor function can progress to other motor milestone states, and a long-term projection phase. Efficacy for eladocagene exuparvovec is derived from clinical trial data with a duration up to 120 months. As the incidence of AADC deficiency is low, data for key model inputs is lacking; therefore estimates of survival by motor milestone were based on proxy diseases. A disease-specific utility study provided quality of life inputs and a burden of illness study informed inputs for disease management. Results The model indicates survival (25.25 undiscounted life years gained) and quality-of-life benefits (20.21 undiscounted quality-adjusted life years [QALYs] gained) for patients treated with eladocagene exuparvovec compared to BSC. Resource usage costs are greater for patients treated with eladocagene exuparvovec, mainly due to the increased life expectancy during which patients accrue additional healthcare resource usage. Scenario analyses indicate robust results. Conclusion This study assessed long-term outcomes for patients with AADC deficiency. Patients treated with eladocagene exuparvovec were found to have improved survival and quality of life benefits compared to patients treated with BSC. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-023-02689-6.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic l-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study

Simons,

Hwu,

Zhang

et al. 2023

Adv Ther

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“…Недостаточность декарбоксилазы L-ароматических аминокислот (aromatic L-amino acid decarboxylase, AADC) (OMIM: 608643) -редкое наследственное нейрометаболическое заболевание, обусловленное нарушением обмена нейромедиаторов, с аутосомно-рецессивным типом наследования. Клиническая картина обусловлена генерализованным комбинированным дефицитом серотонина, дофамина и других катехоламинов (адреналина и норадреналина) и характеризуется мышечной гипотонией, задержкой моторного развития, окулогирными кризами (ОГК), расстройствами вегетативной нервной системы [1][2][3][4].…”

unclassified

“…Заболевание впервые описано K. Xайленд и П. Клейтон в 1990 г. у 2 монозиготных близнецов [2]. Сегодня диагностировано уже более 320 пациентов с дефицитом AADC [1]. Точная частота заболевания до сих пор неизвестна.…”

unclassified

“…Больше половины пациентов имеют трудности с питанием. Один из частых симптомов -нарушения сна, которые имеют тенденцию меняться в зависимости от возраста пациента: для младенцев характерна чрезмерная сонливость, в то время как у детей старше 2 лет наблюдается бессонница [1,3,4,9,11].…”

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Family case of aromatic L-amino acid decarboxylase deficiency

Kondakova

Казакова

Lyalina

et al. 2022

Neuromuscular Diseases

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Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscular hypotonia, motor development delay, oculogyric crises and impairment of the autonomic nervous system.Laboratory diagnostic of AADC deficiency in Russian Federation includes determination of the concentration of 3‑O‑methyldophamine in dried blood spots by tandem mass spectrometry and molecular analysis of the DDC gene by Sanger sequencing or next generation sequencing.Therapy of AADC deficiency includes combination of drugs which increase the formation of dopamine, inhibit its reuptake and increase the residual activity of the enzyme. The first‑line drugs are selective dopamine agonists, monoamine oxidase inhibitors of type B and vitamin B6 supplements.We present the case of management and treatment of patients with AADC deficiency. The patient’s condition was improved by using of combination therapy with pyridoxal‑5‑phosphate, pramipexole and selegiline. Significant positive dynamics was achieved on pyridoxal‑5‑phosphate therapy for the first time.

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl

Yoldas Celik,

Canda,

Yazici

et al. 2024

Jcrpe

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The paper used to print this journal conforms to ISO 9706: 1994 standard (Requirements for Permanence). The National Library of Medicine suggests that biomedical publications be pirinted on acid-free paper (alkaline paper).Reviewing the articles' conformity to the publishing standards of the Journal, typesetting, reviewing and editing the manuscripts and abstracts in English, creating links to source data, and publishing process are realized by Galenos.

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Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review

Cited by 4 publications

References 56 publications

Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic l-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study

Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic l-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study

Family case of aromatic L-amino acid decarboxylase deficiency

Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl

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