Clinical Trials

Our thoughtful approach to clinical trial design enables us to move quickly and efficiently while prioritizing the safety of participants.

Exploring Potential Breakthroughs in Genetic Medicine

Clinical trials evaluate the safety and efficacy of investigational medicines and are required to support regulatory approval of new medications. After a medicine is approved, clinical trials also play an important role in helping further understand the effects of treatment. An observational study is another type of clinical research through which researchers collect data and assess health outcomes without changing participants’ care.

Learn more about the clinical trials 澳门正规博彩十大排行平台 is conducting below. If you are interested in learning more about a particular trial, please email


Achondroplasia is a rare genetic bone growth condition characterized by disproportionate short stature, curvature of the spine and an enlarged head (macrocephaly).

View Trials

CLN2 Disease

CLN2 (late infantile neuronal ceroid lipofuscinosis type 2) disease is an ultra-rare and rapidly progressing pediatric brain disorder and one of the most common forms of neuronal ceroid lipofuscinosis, a group of inherited disorders collectively known as Batten disease.

View Trials

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a recessive, X-linked neuromuscular disorder caused by a severe deficiency or the complete absence of dystrophin, a protein that helps protect muscle cells.

View Trials

Hemophilia A

Hemophilia A is a rare bleeding disorder caused by a mutation in the gene that provides instructions to make the protein FVIII, which is essential for blood to clot normally.

View Trials


Hypochondroplasia is a rare genetic condition generally characterized by short stature, stocky build, disproportionately short arms and legs, broad, short hands and feet, mild joint laxity, scoliosis, and macrocephaly.

View Trials


MPS IVA, also known as Morquio A, is a rare inherited disease that affects major organ systems in the body. The condition is a form of mucopolysaccharidosis, which is a type of lysosomal storage disorder.

View Trials


Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy Syndrome, is an inherited lysosomal storage disorder caused by the deficiency of an enzyme normally required for the breakdown of certain complex carbohydrates.

View Trials


Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH).

View Trials

Defining Clinical Trials

A clinical trial is a research study done to evaluate new potential treatments in people. During a clinical trial, information is collected to determine whether a product candidate is safe and effective, as well as to evaluate the risks and benefits of the medicine. For more information about clinical trials, please visit or The Center for Information and Study on Clinical Research Participation

Research and Development for Clinical Trials

Research and development occurs in several stages before clinical trials commence in people. Preclinical testing is conducted for each investigational product to evaluate the safety, efficacy, best practices for administration, and many other properties before entering human clinical trials. Once preclinical testing is complete, an Investigational New Drug (IND) application is submitted to a regulatory authority, such as the U.S. Food and Drug Administration, so the regulator can evaluate the safety of the product candidate and ensure that clinical trial participants will not be subjected to an unreasonable risk.

Clinical Trial Phases

Clinical trials are conducted in four phases:

A study drug is evaluated in people, often in volunteers without the condition, for the first time to evaluate its safety and best practices for administering the product candidate.

The product candidate is evaluated to determine a safe dose or range of doses, to further evaluate its safety, and to begin testing in participants with the condition of interest to determine if it has the intended or predicted effects.

The product candidate is evaluated, often in larger trials of longer duration, to confirm its effectiveness and to further evaluate safety. Phase 3 trials often compare the study drug to commonly used treatments (if any) or to placebo treatment, if it is scientifically and ethically appropriate to do so.

Post-marketing studies are performed after regulatory agency approval occurs. These studies are designed to collect additional information including the medicine’s risks, benefits and optimal use in a broader patient population, often over extended periods of time. For example, a Phase 4 study could be a registry of patients with a certain condition to collect medical information and better understand outcomes, both in patients receiving the medicine and those who are not.

Regulatory Review

When Phase 1–3 clinical trials are complete, a regulatory application is submitted to regulatory agencies. The application contains all data gathered about the safety and effectiveness of the study drug from the preclinical studies and clinical trials that have been performed. The application also contains information about the chemistry, toxicology, pharmacology and manufacturing processes of the product. The regulatory agency reviews the data and, if approved, the new medicine can be marketed and distributed to the public through prescription by a qualified physician.

Clinical Trial Diversity

When testing potential new therapies in clinical trials, it is critical to include the broadest possible range of individuals, to ensure these medicines have the best chance of improving outcomes for the  diversity of patients who will ultimately receive them. At 澳门正规博彩十大排行平台, we create pioneering medicines for people with genetic conditions around the world, and we are deeply committed to enrolling representative populations in our clinical trials.

Learn More