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Home » Rare diseases » The role of the CRO in developing rare disease treatments

Dr Carlos Camozzi

CRC – Management Consulting GmbH

Creating new treatments for rare conditions is one of the most complex areas facing physicians, patients and drug manufacturers.

Developing drugs for rare diseases remains one of the most challenging areas of pharmacology. With some conditions having very few cases globally, finding enough candidates to particate in clinical trials is difficult. And then there are the challenges of acquiring funding and identifying the academics and researchers to conduct the studies.

While the landscape in this area is changing with an increasing number of contract research organisations (CROs) leading the way, Dr Carlos Camozzi – who has almost three decades of experience in the field of rare diseases – says there are still major challenges.

Rare diseases

As chairman of the scientific advisory group (Rare and Orphan Advisory Board) for CRO Simbec-Orion, he also runs CRC Consulting, which supports development of orphan drugs – pharmaceutical agents for diseases that are so rare that under normal market conditions would not be profitable to produce.

The 7,000 rare diseases, affecting 400 million people globally, fall into three main categories: anatomical disorders mainly corrected with surgery; inherited metabolic disorders and neurodegenerative diseases; and rare oncological disease.

He says: “The difficulty in developing a treatment for these rare diseases is that the detailed physiopathology is not well known or not fully understood, and there are no biomarkers to evaluate response to the treatment or evaluate progression of disease.”

Orphan drugs

The complexity of the scenario means companies trying to develop orphan drugs must work closely with academics and research groups. Further challenges lie in attracting investment, and for physicians to translate the research into clinical application, whilst ensuring efficacy and safety.

The difficulty in developing a treatment for these rare diseases is that the detailed physiopathology is not well known.

However, once a potential therapy has orphan drug designation, different regulatory and market conditions apply to encourage its development, acknowledging that there are so few patients to participate in clinical trials.

He says this is where CROs can make an impact in supporting smaller companies developing orphan drugs because they are efficient at identifying suitable patients and the best centres for research. Their years of experience also means they can respond quickly and navigate the regulatory landscape.


Dr Camozzi says technology is proving invaluable in reaching out to patients with rare conditions and helping them participate in and remain in trials, often remotely. This has proved invaluable during the COVID-19 pandemic, with social distancing and shielding for vulnerable patients.

“Artificial intelligence can be applied to help to analyse data collected, so technology has given tremendous advantages for development of orphan drugs,” he adds.

Diseases where there has been success in helping develop therapies include Niemann-Pick, which is a rare inherited disease that affects the body’s ability to metabolise fat (cholesterol and lipids) within cells, and Niemann–Pick type C.

As an example, NAGS (N-acetylglutamate synthetase) deficiency is a genetic disorder characterised by a lack of the enzyme N-acetylglutamate synthetase, had only 27 known patients in Europe making it impossible to run a clinical trial. However, when asked to do so, Simbec-Orion was able to respond quickly and lead a process which collected data from clinical records of patients treated with “carglumic acid”, cleared documentation, supported regulatory inspection, and saw a therapy approved for patients.

Patient support

Patient groups are important contributors in developing drugs for rare diseases. They play an important role in helping small companies and CROs understand patient priorities, challenges, and desired study outcomes as well as help find patients to participate in research.

Simbec-Orion’s Senior Medical Director, Dr Romillie Cruz, commented that the ability for CROs to respond quickly to changing scenarios within rare disease drug development is also crucial, as patients can deteriorate rapidly without new therapy options. This underlines the value of a CRO that understands patient centricity, values sponsor’s goals and milestones as their own, with an experienced clinical trial team that is dedicated to deliver and quality.

“An experienced clinical trial team that will be able to guide the sponsor at every step of the clinical trial is a key consideration in making the right choice for a CRO partner.”

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