Hereditary spastic paraplegia – European Clinical Trials Information Network https://clinicaltrials.eu Bridging Patients with Clinical Trials Wed, 12 Aug 2026 04:13:47 +0000 en-US hourly 1 https://wordpress.org/?v=7.0.4 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 Study of Melpida with drug combination in patients with Hereditary Spastic Paraplegia Type 50 (SPG50) https://clinicaltrials.eu/trial/study-of-melpida-with-drug-combination-in-patients-with-hereditary-spastic-paraplegia-type-50-spg50/ Mon, 03 Aug 2026 10:45:59 +0000 https://clinicaltrials.eu/trial/study-of-melpida-with-drug-combination-in-patients-with-hereditary-spastic-paraplegia-type-50-spg50/ The study focuses on Hereditary Spastic Paraplegia Type 50, a rare inherited condition that leads to increasing stiffness and weakness in the legs, making walking and movement difficult. Participants will receive the investigational gene‑based therapy called MELPIDA, which is delivered by an intrathecal injection, meaning the medicine is placed directly into the fluid that surrounds the spinal cord. The aim of the trial is to determine whether this treatment is safe and can improve motor abilities and overall disease severity.

During the trial, participants will receive the study medication at scheduled visits over a period of about three years, with regular check‑ups to monitor health and progress. Simple tests will be used to measure changes in walking, balance, and everyday skills, including a movement assessment that looks at major milestones such as standing and walking, and a developmental test that evaluates thinking and learning abilities. The study is a phase 3 trial, which means it is a large‑scale test designed to confirm the benefits and safety of the therapy before it may become widely available.

]]> Phase IIb Open‑Label Study of Intrathecal MELPIDA (AAV9/AP4M1) in Patients with Hereditary Spastic Paraplegia Type 50 (SPG50) https://clinicaltrials.eu/trial/phase-iib-study-of-intrathecal-melpida-aav9-ap4m1-in-patients-with-hereditary-spastic-paraplegia-type-50-spg50/ Mon, 03 Aug 2026 10:45:39 +0000 https://clinicaltrials.eu/trial/phase-iib-study-of-intrathecal-melpida-aav9-ap4m1-in-patients-with-hereditary-spastic-paraplegia-type-50-spg50/ The study focuses on Hereditary spastic paraplegia type 50 (SPG50), a rare condition that causes progressive stiffness and weakness in the legs, making walking difficult. The investigational therapy being evaluated is a gene‑based product called Melpida, which contains the experimental agent AAV9/AP4M1. This therapy is designed to deliver a normal copy of the missing gene directly to the nervous system.

The purpose of the trial is to determine whether a single intrathecal injection of the study drug into the fluid surrounding the spinal cord in the lower back can improve leg function. Participants will receive the injection once and then be monitored over several years with regular visits to assess changes in walking and other motor skills using a standard motor‑function test. Throughout the study, safety checks and simple questionnaires will be used to track any side effects and overall health.

]]> 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/ Mon, 03 Aug 2026 10:41:55 +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.

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