Conducting Clinical Trials in Rare Genetic Diseases: Obstacles and Implications

Although the rare, orphan disease is a highly contagious disease that affects nearly 350 million people worldwide. The number of orphans has risen since the beginning of the US Orphan Drug Act in 1983, following Japanese law in 1990 in the European Union (EU), which was prescribed by doctors. It affects orphans up to 2000. It is considered a rare disease affecting less than 1 in 2,000 people in the European Union, 1,500 in the US, and 2,500 in Japan. The minimum incidence of this disease is estimated at 8,000.

Despite clear financial and legal support from the regulatory authorities, the Clinical study plans to manage the rare disease continue to affect many important issues due to lack of access to care.

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Some of the key facets of orphan drugs development are:

• The design is strictly structured
• Improved integration
• Drug behavior and other animal experiments (not human tests)
• Pharmacokinetics/pharmacodynamics Studies
• CMC (Chemistry, manufacturing, and control) of investigational products

In the initial stage of clinical research, some important data need to be addressed:

• Follow the standard rules for adults and children.
• Provide referral services to hospitals that perform primary testing.
• Improving the safety and efficacy of the first stage of clinical pharmacology, including the transition period from Phase 1 to the second phase.
• Draw data and expectations and differences to reduce the risk.

There are several steps in therapeutic medical research: simplifying the test and evaluation to answer research questions, the steps to a good academic model, a good design, ethical recruitment and financial research, knowledgeable study staff. Theories associated with the study of rare cases of rare diseases may address these needs in historical topics.

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Top 5 tips to improve your clinical trial

Clinical Study  Design

Randomized controlled trials are often considered the gold standard for decision-making in a clinical study. The design of this experiment eliminated prejudice on the selection and distribution of known and unknown interventions in the research group. Randomization and blindness can work together to reduce the bias of researchers and participants in assessing outcomes. The use of this unique diagnostic testing system for the diagnosis of minor side effects, as is usually the case in common diseases, is expensive, long-lasting, requires a large amount, and is less possible for rare diseases.

Survival Story and Patient Book

In the planning of clinical trials, Researchers try to thoroughly understand the pathogenesis of the disease. By understanding disease progression, we can identify key indicators of disease progression, select appropriate study periods to examine the changes in progression, assess the stages of major diseases, and review inclusion/exclusion criteria. Make important changes in the protocol and understand them correctly. Among the rare diseases, a limited number of patients, the distribution of patients worldwide, and the less number of well-trained researchers make it impossible to compare common diseases with collective medical reports.

Outcome Measures

Rare diseases often do not have reliable signs of disease function or progression. Current clinical rating scales have increased our understanding of the nature of the disease, but this measure will require additional modifications for use in clinical trials. In addition, the clinical manifestations of rare diseases are heterogeneous, which calls into question the choice of specific clinical limitations in the disease expression.

Patient Recruitment and Retention

Getting qualified and organized subjects in any rare disease is a challenge. There is often a trend for patients with early disease that causes the disease or vice versa, in addition, the risk of intervention is higher in patients with advanced disease. However, in a limited number of patients, the inclusion criteria may not be significantly limited by disease level or other characteristics. Global dispersion of subjects requires the multicentric collaboration with Principal Investigators. In the case of patients with significant physical disabilities, a visit to study centers can be an impossible barrier to participate in the study.

Funding Drug discovery Development

Improving rare diseases is the craving of sponsors to reduce drug development timeframe. Medications in the rare disease take approximately 10 years from applying for a new drug under test to the approval of a new pharmaceutical drug – the longest for any treatment category. Preclinical animal studies extend this period even further. The success of new drugs in rare diseases is low as compared with other new diseases.

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Closing Remarks

Experimental treatments for rare diseases present many impediments. In spite of these pitfalls, significant progress has been made in the field of various rare diseases, with the early development of disease rating scales, sponsoring for the development of new medicine, and there are numerous ongoing clinical studies. Future primacies are to enhance our knowledge of such preclinical modeling, disease Mechanism of action and clinical history, progress current values, and improve patient proximity.