UK AADC Deficiency Market Analysis


  • Type: Rare Disease Area
  • Published : April 2021
  • Region: Europe
  • Country: UK
  • Report ID : 2599

  • Format: PPT, PDF

UK AADC-Deficiency Therapeutics Market: Segmented by Diagnosis, Therapeutics, Route of Administration, and Distribution Channels – Size, Share, Impact, Growth, Trends, and Forecasts (2020 – 2028)

Published Date: June 2021

SKU: 2599 Categories: ,

Report Overview

The UK AADC-Deficiency Therapeutics market size stood at around USD xx billion in 2020 and is projected to reach USD xx billion by 2028, exhibiting a CAGR of xx% during the forecast period.

The AADC deficiency is an ultra-rare autosomal recessive disease caused by a non-functional AADC enzyme, which normally synthesizes serotonin and dopamine, among other important compounds. As a result, patients with AADC deficiency lack crucial neurotransmitters, including serotonin, dopamine, norepinephrine, epinephrine, and melatonin, and have severe developmental and motor deficiencies. Symptom onset typically occurs during the first months of life.

The majority of patients present a severe phenotype with early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction, a few patients with a milder disease course are known. Patients with AADC deficiency also present with autonomic dysfunction that is characterized by impairment of the sympathetic regulation of heart rate and blood pressure, paroxysmal sweating, emotional instability, and sleep disturbance. This leads to a complex syndrome characterized by motor, behavioral and autonomic symptoms.

The life expectancy of patients with severe AADC deficiency has been reported to be less than a decade. In patients identified with AADC deficiency where gender is reported, the distribution is estimated as; approximately 57% are male and 43% are female. There are around 120 confirmed diagnoses of AADC deficiency worldwide documented in the literature. As per the cases documented in the literature, the average age of symptom onset for AADC deficiency is 2.7 months. Despite the early onset of symptoms, the average age of diagnosis is 3.5 years. The predicted birth rate of individuals with AADC deficiency is estimated to be approximately 1:118,000 in the EU, and these birth rates translate into a current estimate of about 853 living patients with AADC deficiency in the EU.

Market Growth Drivers

The introduction of novel therapies, robust product pipeline, rising government initiatives for creating awareness regarding the AADC-deficiency diagnosis and its treatment, and its available therapeutic options are expected to significantly fuel the market growth over the forecast period.

Additionally, changes in government policies, demand and supply of the market, government intervention programs, and major market share are also playing an essential role to boost the market growth over the forecast period. Moreover, the rise in the number of patients suffering from AADC deficiency is likely to fuel the market growth during the forecast period.

In addition, rise in healthcare expenses and government initiatives for the betterment of health. Increased R&D activities to counter AADC deficiency in children are more likely to propel the market demand during the forecast period.

Market Restraints

Increasing collaboration and technological advancements are projected to bring new growth avenues for market players during the forecast period. While the high cost of approved therapeutics and lower treatment rates hampers the market.


1. UK AADC-Deficiency Therapeutics Market Overview………………………
A. Market Size
2. Market Growth Drivers and Restraints……………………………………….…
Market Growth Drivers
A. Robust Products Pipeline & Introduction of Novel Therapies
B. Rising Government Initiatives and Increased R&D Activities
C. Increasing Collaboration and Technological Advancements
Market Restraints
A. Huge Cost of Therapeutics
B. Lower Treatment Rates
3. Major Types of AADC-Deficiency…………………………………………………..
A. Folding Type
B. Catalytic Type
C. Folding and Catalytic Type
4. AADC-Deficiency Therapeutics Market Segmentation……………………………….
A. By Diagnosis
I. Physical Examination
II. Complete Blood Count Test
III. Measurement of Electrolyte Levels
IV. Magnetic Resonance Imaging (MRI)
V. Measurement of AADC-enzyme Levels
VI. Spinal Tap/ Lumbar Puncture
VII. Genetic Testing
VIII. Others
B. By Therapeutics
I. Gene Replacement Therapy
II. Physiotherapy
III. Psychotherapy
IV. Dopamine Agonists
V. MAO Inhibitors
VI. Anticholinergic Agents
VII. Benzodiazepines
VIII. Selective Serotonin Reuptake Inhibitors (SSRIs)
IX. Others
C. By Route of Administration
I. Oral
II. Parenteral
III. Others
D. By Distribution Channels
I. Retail Pharmacies
II. Hospital Pharmacies
III. Online Pharmacies
5. AADC-Deficiency Major Drugs Market Share………………………………
A. Market Analysis, Insights and Forecast – By Revenue Type
6. Competitive Landscape…………………………………………………………………
A. Major Players
B. Products in Pipeline
7. Key Company Profiles………………………………………………………………….
A. PTC Company overview, Product & Services, Strategies & Financials
8. Healthcare Policies and Regulatory Landscape……………………………………
A. Policy changes and Reimbursement scenario
9. Factors Driving Future Growth…………………………………………………………
A. New Trends and Development of AADC-Deficiency Therapeutics Market
B. Future Opportunities
10. Conclusion

Market Segmentation

By Diagnosis:

Based on the diagnosis, the AADC-deficiency treatment market can be bifurcated into

  • physical examination
  • complete blood count test
  • measurement of electrolyte levels
  • magnetic resonance imaging (MRI)
  • measurement of AADC-enzyme levels
  • spinal tap or lumbar puncture
  • genetic testing
  • Others

A complete clinical evaluation and a high index of suspicion are required to make the diagnosis. The evaluation of a child starts with a complete physical examination. Although many tests, such as a complete blood count, measurement of electrolyte levels, and magnetic resonance imaging of the brain are usually performed in the diagnostic workup of a child presenting with neurodevelopmental delay. Additionally, some other diagnostic tests typically involve a blood test taken to measure levels of the AADC-enzyme and a spinal tap or lumbar puncture to collect cerebrospinal fluid (CSF). Levels of dopamine and serotonin in the CSF can help to diagnose AADC deficiency. Finally, genetic testing can also be performed to detect mutations in the DDC gene and confirm the diagnosis.

By Therapeutics:

In terms of therapeutics, the AADC-deficiency treatment market is classified into

  • gene replacement therapy
  • physiotherapy
  • speech therapy
  • dietary supplements therapy
  • psychotherapy
  • dopamine agonists
  • monoamine oxidase (MAO) inhibitors
  • pyridoxal phosphate
  • pyridoxine
  • anticholinergic agents
  • folinic acid
  • L-dopa with carbidopa
  • L-dopa without carbidopa
  • 5-hydroxytryptophan
  • Benzodiazepines
  • Melatonin
  • selective serotonin reuptake inhibitors (SSRIs).

Current research and clinical trials in AADC deficiency are mostly focused on gene replacement therapy, which aims to replace the non-working gene. The gene replacement therapy is injected via a surgical procedure into an area of the brain called the putamen. Thus, gene replacement therapy is expected to witness maximum market share during the forecast period.

By Route of Administration:

Based on route of administration, the AADC-deficiency treatment of the market can be segmented into oral, parenteral, and others. The parenteral route is anticipated to dominate the route of the administration segment as Eladocagene exuparvovec is delivered as four 0.080 mL infusions. Till now, it is only the effective gene replacement therapy that has been approved in the UK, thus further projected to control its market share during the forecast period.

By Distribution Channels:

In terms of distribution channels, the AADC-deficiency treatment market has been bifurcated into

  • Hospital pharmacies
  • Retail pharmacies
  • Online pharmacies

The hospital pharmacies segment generated the highest revenue in 2020 and is anticipated to witness growth during the forecast period due to most major products are prescription products, which are available in hospital pharmacies.

Top Major Players

The AADC-deficiency treatment market is a niche segment and currently has only a few players in the UK, and these are planning to adopt various strategies to garner maximum market share. The inorganic and organic strategies will pave a way for the expansion of the business and customer base of market players. PTC Therapeutics Limited is one of the major players operating in the UK market. Its Eladocagene exuparvovec (PTC-AADC, Upstaza) is indicated for the treatment of adult and pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency and expected to account for maximum market share over the forecast periods.

Research Methodology

Insights10 will provide you reports within 10 key parameters which are:

  1. Market overview
  2. Market growth drivers & restraints
  3. Epidemiology or disease type
  4. Market segmentation
  5. Market share
  6. Competitive landscape
  7. Key company profiles
  8. Healthcare policies & regulatory framework
  9. Reimbursement scenario
  10. Factors driving future growth

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