CLINICAL TRIALS PROFILE FOR CYSTAGON

All Clinical Trials for Cystagon

Trial ID	Title	Status	Sponsor	Phase	Start Date	Summary
NCT00028262 ↗	Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis	Completed	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)	Phase 4	2001-02-01	This study will examine the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL), a progressive neurological disease affecting children. At around 11 to 13 months of age, patients develop slowed head growth, mild brain atrophy (wasting), electroencephalographic (EEG) changes and retinal deterioration, with symptoms worsening over time. The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. In laboratory experiments, Cystagon has helped remove ceroid from cells of patients with INCL. Children with INCL between 6 months and 3 years of age may be eligible for this study. Participants take Cystagon daily by mouth every 6 hours. They are admitted to the NIH Clinical Center for a 4- to 5-day period every 6 months for the following tests and evaluations: - Review of medical history, including a detailed record of seizures, physical examination, blood tests and clinical photographs. For the initial baseline studies, examinations may also be scheduled with pediatric neurology, ophthalmology and anesthesia services. - Magnetic resonance imaging (MRI) of the brain MRI uses a powerful magnet, radio waves, and computers to provide detailed images of the brain without the use of X-rays. The patient lies on a table that slides inside a donut-shaped machine containing a magnetic field. The child requires general anesthesia for the procedure. - Electroretinogram (ERG) measures the function of the retina, the light-sensitive tissue in the back of the eye. To record the flash ERG, a special contact lens is placed on the eye s surface and the eye is stimulated with flashes of light. Infants and very young children require general anesthesia for the procedure. - Visual evoked potential (VEP) measures the function of the visual pathway from the eye to the brain. To record the VEP, five electrodes are placed on the scalp and the eye is stimulated with flashes of light. Infants and very young children must be anesthetized for the procedure. - Electroencephalogram (EEG) measures brain electrical activity, using electrodes placed on the scalp. The test is useful in defining seizures. The child may need to be sedated to keep still during the test. - Skin biopsy A small piece of skin is removed (usually from the upper arm or shoulder) under local anesthetic to grow cells in the laboratory. This procedure is done at the start of the study and is repeated after 1 year if therapy results are promising. Children s condition may improve, stabilize or worsen during this study. Life may be prolonged without significant improvement in quality. The information gained from the study may help scientists develop more potent drugs to treat INCL.
NCT00359684 ↗	Use of Cysteamine in the Treatment of Cystinosis	Recruiting	National Human Genome Research Institute (NHGRI)	Phase 4	1978-07-01	Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival. Both the kidney damage and growth failure are thought to be due to the accumulation of the amino acid cystine within the cells of the body. The cystine storage later damages other organs besides the kidneys, including the thyroid gland, pancreas, eyes, and muscle. The drug cysteamine (Cystagon) is an oral medication given to patients with cystinosis prior to kidney transplantation. The drug works by reducing the level of cystine in the white blood cells and muscle tissue. The drug may also decrease levels of cystine in the kidneys and other tissues. This study has several goals: 1. Long-term surveillance of cysteamine (Cystagon) treated patients. 2. Detection of new non-kidney complications of cystinosis. 3. Maintenance of a patient population for genetic testing (mutational analysis) of the cystinosis gene.
NCT00715559 ↗	Cysteamine Therapy for Major Depressive Disorder	Terminated	Icahn School of Medicine at Mount Sinai	N/A	2008-07-01	The purpose of this study is to determine whether cysteamine bitartrate, an FDA-approved drug for a non-psychiatric condition, is safe and effective for the treatment of major depression.
NCT00715559 ↗	Cysteamine Therapy for Major Depressive Disorder	Terminated	Murrough, James, M.D.	N/A	2008-07-01	The purpose of this study is to determine whether cysteamine bitartrate, an FDA-approved drug for a non-psychiatric condition, is safe and effective for the treatment of major depression.
NCT00872729 ↗	Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis	Completed	Horizon Pharma USA, Inc.	Phase 1/Phase 2	2009-05-01	Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the rest of the patient's life to prevent complications of cystinosis. RP103 is a formulation of cysteamine bitartrate that is being studied to see if it may be able to be given less frequently, once every 12 hours, and have similar results.

Clinical Trial Conditions for Cystagon

Condition Name

Condition Name for Cystagon
Intervention	Trials
Cystinosis	8
Cystic Fibrosis	1
Infantile Neronal Ceroid Lipofuscinosis	1
Major Depressive Disorder	1

Condition MeSH

Condition MeSH for Cystagon
Intervention	Trials
Cystinosis	8
Fanconi Syndrome	3
Depressive Disorder	1
Depression	1

Clinical Trial Locations for Cystagon

Trials by Country

Trials by Country for Cystagon
Location	Trials
United States	17
France	3
Netherlands	3
United Kingdom	2
Italy	1

Trials by US State

Trials by US State for Cystagon
Location	Trials
California	5
Illinois	4
Georgia	3
Texas	2
Maryland	2

Clinical Trial Progress for Cystagon

Clinical Trial Phase

Clinical Trial Phase for Cystagon
Clinical Trial Phase	Trials
Phase 4	2
Phase 3	4
Phase 1/Phase 2	3

Clinical Trial Status

Clinical Trial Status for Cystagon
Clinical Trial Phase	Trials
Completed	8
Recruiting	2
Terminated	1

Clinical Trial Sponsors for Cystagon

Sponsor Name

Sponsor Name for Cystagon
Sponsor	Trials
Raptor Pharmaceuticals Inc.	5
Horizon Pharma USA, Inc.	5
Icahn School of Medicine at Mount Sinai	2

Sponsor Type

Sponsor Type for Cystagon
Sponsor	Trials
Industry	12
Other	8
NIH	2

Cystagon: Clinical Trials, Market Analysis, and Projections

Introduction to Cystagon

Cystagon, an immediate-release formulation of cysteamine bitartrate, is a crucial medication for patients with cystinosis, a rare genetic disorder characterized by the accumulation of cystine within cells. This accumulation can lead to severe organ damage, particularly in the kidneys. Here, we will delve into the clinical trials, market analysis, and future projections for Cystagon.

Clinical Trials and Efficacy

Historical Studies

Cystagon has been extensively studied in several clinical trials. The European Medicines Agency (EMA) notes that Cystagon was investigated in three main studies involving 234 patients over a 12-year period. These studies included children and newly recruited patients, comparing different doses of the medication. The trials were ethically constrained from using a placebo group, instead comparing outcomes with patients from unrelated trials. The results showed that Cystagon significantly delays kidney problems, reduces the need for dialysis or renal transplantation, and improves survival and growth rates in children when treatment is initiated early[4].

Comparative Studies with New Formulations

A recent open-label, randomized, controlled, crossover trial compared the efficacy of a new delayed-release formulation of cysteamine bitartrate (RP103) taken every 12 hours to the traditional immediate-release formulation (Cystagon) taken every 6 hours. The study found that the new formulation was not inferior to Cystagon in maintaining low white blood cell (WBC) cystine levels, although it required a lower total daily dose. However, the new formulation was associated with a higher incidence of gastrointestinal side effects[1].

Market Analysis

Current Market Size and Growth

The market for cystinosis treatments, primarily driven by Cystagon and another formulation called Procysbi, was valued at USD 130.46 million in 2017 across seven major markets (the United States, EU5 countries, and Japan). The United States accounted for the largest share, with a market size of USD 86.52 million in 2017. The market is expected to grow at a significant Compound Annual Growth Rate (CAGR) during the forecast period from 2017 to 2028[3].

Market Drivers and Competitors

The main drivers of the cystinosis market include the increasing prevalence of the disease and the introduction of new therapies. The total diagnosed prevalent population of cystinosis in the seven major markets was 1,308 in 2017 and is expected to increase. Current treatments are mainly cystine-depleting therapies like Cystagon and Procysbi. However, emerging therapies such as AVR-RD-04, a lentiviral-based gene therapy by Avrobio, and ELX-02, a ribosomal protein modulator by Eloxx Pharmaceuticals, are expected to compete with existing treatments and potentially capture a significant market share[3].

Pricing and Accessibility

The pricing of Cystagon and other cystinosis treatments has been a subject of scrutiny. For instance, the Patented Medicine Prices Review Board (PMPRB) in Canada found that Procysbi, another cysteamine formulation, was moderately better than Cystagon but not excessively priced when compared internationally. This highlights the complex pricing dynamics and regulatory considerations surrounding these rare disease treatments[2].

Market Projections

Forecasted Growth

The cystinosis market is projected to continue growing, driven by the increasing prevalence of the disease and the introduction of new therapies. By 2028, the market size is expected to increase significantly from its 2017 value, with the United States remaining the largest market segment[3].

Emerging Therapies

The potential entry of gene therapies like AVR-RD-04 and novel mechanisms of action such as ELX-02 are expected to impact the market significantly. These therapies could offer more effective and possibly permanent treatments, thereby altering the market landscape and potentially reducing the dominance of traditional treatments like Cystagon[3].

Challenges and Future Directions

Patient Adherence and Side Effects

One of the significant challenges with Cystagon is the strict dosing schedule, which can lead to patient nonadherence. The new delayed-release formulation aims to address this issue but comes with its own set of side effects, particularly gastrointestinal issues. Future formulations and therapies will need to balance efficacy with patient tolerance and adherence[1].

Regulatory and Pricing Considerations

Regulatory bodies continue to scrutinize the pricing of rare disease treatments. Ensuring that these medications are accessible while maintaining their economic viability will be crucial. International pricing comparisons and moderate improvement tests, as seen in the PMPRB's evaluation of Procysbi, will play a significant role in shaping the market[2].

Key Takeaways

• Clinical Efficacy: Cystagon has been proven to delay kidney problems and improve survival and growth rates in patients with cystinosis.
• Market Size and Growth: The cystinosis market, driven by Cystagon and Procysbi, is expected to grow significantly from its 2017 value of USD 130.46 million.
• Emerging Therapies: New formulations and therapies, including gene therapies and ribosomal protein modulators, are poised to enter the market, potentially altering the treatment landscape.
• Challenges: Patient adherence and side effects remain significant challenges, while regulatory and pricing considerations continue to impact market dynamics.

FAQs

What is the primary use of Cystagon?

Cystagon is used to treat cystinosis, a rare genetic disorder characterized by the accumulation of cystine within cells, particularly in the kidneys.

How often is Cystagon typically administered?

Traditionally, Cystagon is administered every 6 hours. However, new formulations are being developed to allow for less frequent dosing, such as every 12 hours.

What are the main side effects of Cystagon?

Common side effects include gastrointestinal issues. New formulations may have different side effect profiles, such as increased gastrointestinal side effects in the case of the delayed-release formulation.

How does Cystagon compare to other cystinosis treatments?

Cystagon has been compared to Procysbi, another cysteamine formulation, and has been found to be similarly effective but with different dosing schedules and side effect profiles. Emerging therapies like AVR-RD-04 and ELX-02 may offer alternative mechanisms of action and potentially better outcomes.

What is the projected market growth for cystinosis treatments?

The market for cystinosis treatments is expected to grow significantly from its 2017 value, driven by increasing prevalence and the introduction of new therapies.

Sources

1. Effectiveness on white blood cell cystine levels and ... - PubMed
2. PMPRB finds ultra-rare drug PROCYSBI is excessively priced - JDSupra
3. Cystinosis - Market Insights, Epidemiology & Forecast to 2028 - PR Newswire
4. Cystagon | European Medicines Agency (EMA)

Last updated: 2025-01-06