Hereditary spastic paraplegia – European Clinical Trials Information Network https://clinicaltrials.eu Bridging Patients with Clinical Trials Thu, 28 May 2026 11:31:07 +0000 en-US hourly 1 https://wordpress.org/?v=7.0 https://clinicaltrials.eu/wp-content/uploads/2024/12/cropped-EU_icon-32x32.png Hereditary spastic paraplegia – European Clinical Trials Information Network https://clinicaltrials.eu 32 32 Testing Gene Therapy AAV9/AP4M1 in Patients with Hereditary Spastic Paraplegia Type 50 https://clinicaltrials.eu/trial/testing-gene-therapy-aav9-ap4m1-in-patients-with-hereditary-spastic-paraplegia-type-50/ Thu, 30 Apr 2026 13:08:38 +0000 https://clinicaltrials.eu/trial/testing-gene-therapy-aav9-ap4m1-in-patients-with-hereditary-spastic-paraplegia-type-50/ This study involves Hereditary Spastic Paraplegia Type 50, also known as SPG50, which is a rare inherited condition that affects movement and causes muscle stiffness and weakness, particularly in the legs. The condition is caused by changes in a specific gene called AP4M1. The treatment being tested is called Melpida, which is a type of gene therapy designed to deliver a working copy of the AP4M1 gene to the body. This therapy uses a modified virus called adeno-associated virus type 9, or AAV-9, which acts as a delivery vehicle to carry the correct gene into cells. The treatment is given as a single dose through intrathecal administration, which means it is injected into the space around the spinal cord in the lower back.

The purpose of this study is to determine whether this single dose of gene therapy can improve the condition of people with SPG50. The study will measure changes in motor function, which refers to the ability to move and control muscles, by looking at major movement milestones such as sitting, standing, and walking. During the study, participants will receive the treatment and then be followed for several years to observe any improvements in their movement abilities, overall development, and quality of life. The study will also look at markers in the blood and cerebrospinal fluid, which is the liquid that surrounds the brain and spinal cord, to understand how the disease and treatment affect the nervous system.

Participants will need to attend regular visits at the study center over a period of several years after receiving the treatment. These visits will include various assessments to measure movement skills, thinking abilities, and overall wellbeing. For safety reasons, participants must stay within a reasonable distance from the study center for the first month after treatment so they can quickly return if needed. The study will track how participants respond to the treatment by comparing their abilities before and after receiving the gene therapy, with the main assessment taking place about three years after treatment.

]]>