Achondroplasia Clinical Trials 2023

What Are Achondroplasia Clinical Trials?

Clinical trials aim to find treatments for illnesses and diseases by conducting four phases. The different phases are designed to determine whether proposed treatments are safe and better than current treatment options. The 3^rd and 4^th phases of the clinical trials determine the effectiveness and their ability to improve the condition and symptoms of patients.

Although Achondroplasia is not curable, several current clinical trials for Achondroplasia concentrate on finding treatment options for children and adolescents. Along with these clinical trials, the study of the side-effectiveness of new drugs designed to improve growth in young patients with Achondroplasia is ongoing.

Most of the Achondroplasia trials are in the 3^rd or 4^th phase. They have so far shown optimistic results for improvement in baseline growth measured in limbs and height.

Why Is Achondroplasia Being Studied Through Clinical Trials?

Achondroplasia is a disease affecting growth in patients. Stunted growth is caused by an abnormal protein in the body which causes the fibroblast growth receptor to function abnormally. The fibroblast growth factor plays a role in multiplying cells, immune responses, and movement of cells in particular directions.

Achondroplasia affects limb bone growth and causes malformation and abnormal spine and skull growth.

Symptoms of Achondroplasia include:

• Late childhood development
• Shortened limbs, particularly upper arms and thighs
• Large head
• Pronounced forehead
• Curved spine
• Flattened nose
• Misaligned teeth
• Short, broad feet
• Compressed spinal column
• Trident hands
• Low muscle tone

There are several neurological problems associated with this disease, including Corticomedullary Myelopathy, Hydrocephalus, and Spinal Cord Myelopathy. These conditions manifest with additional challenging health concerns that require ongoing medical treatment and intervention.

Achondroplasia is diagnosed in the uterus by fetal ultrasound or extensive medical examination and tests after birth.

What Are The Types Of Treatments Available For Achondroplasia?

Current treatments for Achondroplasia are commonly orthopedic and are focused on the repair of physical and neurological symptoms.

The corrective surgical procedures most frequently performed are:

• Spinal fusion
• Osteotomy to correct the bone malformation
• Lengthening surgery for limbs
• Surgery to relieve pressure on a compressed spinal cord that causes nerve damage and pain.

What Are Some Recent Breakthrough Clinical Trials For Achondroplasia?

2018: A BMN 111 Mechanism of Action Trial is an ongoing trial to determine whether BMN 111 effectively improves the physical growth limitation of patients with Achondroplasia. The trial has shown success to date and will continue until 2024. BMN 111 increases the extra-cellular matrix to create an improved bone template for patients with Achondroplasia.

2023: A study on Infigratinib in Children with Achondroplasia is currently underway to determine whether administering Infigratinib, a 1-3-selective tyrosine kinase inhibitor, improves growth in children aged 3-11 years based on comparison to their existing growth baseline.

2023: A qualitative study on children and parents with Achondroplasia examines the medical challenges of living with Achondroplasia and the impact this has on the patient’s life. This research found that key challenges are pain, excessive perspiration, difficulty concentrating and remembering, balance problems, extreme fatigue, and height-related frustrations affecting normal day-to-living.

Who Are Some Of The Key Opinion Leaders In Achondroplasia Clinical Trial Research?

Dr. Julie Hoover-Fong is an experienced clinical researcher in studies for Achondroplasia, particularly in children and adolescents. She is a genetic medicine and pediatrics professor at the Johns Hopkins Greenberg Center.

Michael B. Bober, MD, Ph.D., has extensive experience in genetics and is an experienced clinical researcher in rare bone diseases such as Achondroplasia. With 15 years as Principal Site Investigator focusing on muscular-skeletal diseases and genetics, he has published over 100 peer-reviewed journals.