Leukodystrophy

This study tests an experimental drug, fosigotifator, in adults and children with Vanishing White Matter disease, a rare genetic brain disorder. The main goals are to check the drug's safety and how the body processes it. About 50 participants will take the drug for up to 201 wee…

This trial tests a gene therapy for metachromatic leukodystrophy (MLD), a rare and life-threatening genetic disorder that damages the nervous system. The treatment uses a lentivirus to deliver a working copy of the ARSA gene directly into the spinal fluid and bloodstream. Up to 1…

This study tests a gene therapy called BBP-812 in children up to 30 months old with Canavan disease, a rare genetic brain disorder. The treatment uses a harmless virus to deliver a working copy of the ASPA gene, aiming to reduce harmful brain chemicals and improve motor and think…

This study tests whether adding low-dose radiation to the drug elranatamab can better kill cancer cells in people with multiple myeloma that has come back or not responded to treatment and has spread outside the bone. About 34 adults will receive the combination. The goal is to s…

This program offers early access to zilganersen for people with Alexander disease, a rare genetic brain disorder. It is for US residents aged 2 and older who have not responded to or cannot tolerate approved treatments. The goal is to provide the drug while it is still being stud…

This early-stage trial tests a new medicine called IMSB301 in people with rare diseases where the immune system attacks the body. The study includes up to 6 participants aged 12 and older. The main goal is to check if the drug is safe and how it behaves in the body.

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This early-stage study tests a new medicine called ION356 in 24 boys aged 2 to 17 with Pelizaeus-Merzbacher disease, a rare genetic brain disorder. The main goal is to check if the drug is safe and how the body processes it. The drug is given through a spinal injection to target …

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This trial tests a gene therapy for X-linked adrenoleukodystrophy (X-ALD), a rare genetic disease that damages the brain. The therapy uses a modified virus to deliver a working copy of the faulty gene directly into the spinal fluid and bloodstream. Up to 30 patients aged 1 year a…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This study compares two surgeries for stress urinary incontinence (leaking urine when coughing or sneezing) in women. One method uses a synthetic mesh sling, while the other repairs natural tissues without mesh. Researchers will track symptom improvement, recovery time, pain, and…

This study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outc…

This study builds a global database of people diagnosed with or at risk for Krabbe disease, a rare nerve disorder. Researchers will track symptoms, genetic mutations, and enzyme levels to find clues that predict when the disease starts and how severe it becomes. The registry also…

This study is a national registry for people with adrenoleukodystrophy (ALD), a rare genetic disorder. Researchers will collect medical records and survey data from up to 1,000 patients and their families over time to understand how the disease progresses. The goal is to find bet…

This observational study is following 32 boys aged 6 months to 17 years with Pelizaeus-Merzbacher disease (PMD), a rare genetic disorder affecting the brain's white matter. Researchers are measuring biomarkers in spinal fluid and blood, brain scans, and motor and cognitive skills…

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways…

This study follows 200 people with Alexander Disease, a rare brain disorder, to learn how the disease changes over time. Researchers measure movement, speech, swallowing, and quality of life, and collect blood and spinal fluid samples. The goal is to gather information that will …

This study follows up to 600 people with leukodystrophy, a rare genetic disorder affecting the brain's white matter. Researchers aim to track how the disease progresses, improve diagnosis through genetic testing and brain scans, and evaluate outcomes like hospitalizations and res…

This study aims to learn more about rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy volunteers. The goal is to bette…

This study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…

This study aims to learn how the binding of RNA with DNA (called R-loops) is linked to amyotrophic lateral sclerosis type 4 (ALS4) and other inherited neurological disorders. Researchers will observe up to 330 people aged 5 and older, including those with ALS4, related conditions…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study collects blood samples from 100 people with rare brain diseases like adrenoleukodystrophy and metachromatic leukodystrophy. Researchers will study immune cells called macrophages to see if they affect how the disease progresses. No treatment is given; the goal is to le…