Metachromatic leukodystrophy

This study tests whether intensive home-based psychiatric treatment can help children and teens with mental health disorders as an alternative to being in the hospital. Over 3 months, participants receive 3 to 7 home visits per week from a team of doctors, therapists, and other s…

This study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This large study tests whether a simple iPad-based cognitive test, called MyCog, can help primary care doctors detect early dementia and cognitive impairment in underserved communities. Over 57,000 older adults from 24 clinics will take the test during routine visits. The goal is…

This study explores whether a self-administered digital test called eSAGE, combined with information from electronic health records and machine learning, can help detect early signs of cognitive impairment, including dementia and Alzheimer's disease. Researchers will analyze data…

This study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests a simple, drug-free approach to help people with moderate-to-severe dementia who struggle with eating. The experimental group receives a salivary gland massage combined with aromatherapy before meals for 20 days, while the control group gets a palm massage. Resea…

This study tests a web-based support program called Hospital GamePlan4Care for caregivers of veterans with dementia who are discharged from skilled nursing facilities to home. Fifty-five caregivers will receive either the program (website, emails, and phone coaching) or basic hea…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study tests whether a team of doctors, nurses, social workers, and community health workers providing palliative care at home can improve symptom control and reduce hospital visits for people with advanced dementia. About 153 patients and their family caregivers are taking p…

This study tests a 6-week online program called Learning Skills Together for family caregivers of people with Alzheimer's or related dementias. The program includes weekly group discussions and a workbook covering topics like communication, medication management, and home safety.…

This study tests whether special lights placed over doorways can help reduce nighttime falls in assisted living residents with Alzheimer's or related dementias. The lights are low-intensity and outline the bathroom or entry door, providing visual cues to improve balance. Research…

This study tests an 8-week program that helps people with mild dementia and their caregivers identify and use their strengths. The program includes workshops and a biography activity led by trained volunteers. Researchers will measure changes in thinking skills and caregiver conf…

This pilot study tests a specific type of drama therapy for people who have both a mental health condition (like depression or bipolar disorder) and a substance use disorder. Ten participants will attend weekly group drama therapy sessions for 12 weeks, then put on a performance.…

This study from Yale University will test whether listening to live music can reduce anxiety and improve brain activity in people with early Alzheimer's disease, dementia, or mild cognitive impairment, along with their caregivers. Sixty pairs (patient and caregiver) will attend b…

This study looks at whether weekly choir singing can reduce loneliness in people with dementia and their family caregivers. About 100 people will join dementia-friendly choirs for 12 weeks, with breaks and follow-ups. Researchers will measure loneliness, mood, and caregiver burde…

This study tests whether a home-based brain stimulation device (tDCS) combined with activity therapy can help improve cognitive and language problems in people with stroke, brain tumors, or neurodegenerative conditions like Parkinson's or Alzheimer's. Fifty-five participants will…

This study tests a group therapy called Awareness, Courage, and Love (ACL) for older adults with psychiatric disorders who feel lonely. The therapy focuses on mindfulness, sharing feelings, and building connections. Researchers want to see if the program is practical and helpful …

This study tests whether two different essential oil blends can reduce agitation (sundowning) and improve sleep in 35 people with dementia living in long-term care. Participants receive a stimulating morning blend and a relaxing afternoon blend, then a calming all-day blend, each…

This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

This study tests a 10-week program called 'Grow to Recovery' for people with mental illness. The program is co-led by a peer (someone who also has a mental illness) and a professional. Researchers want to see if it helps participants feel more hopeful and capable. 138 people are …

This study uses a special PET scan to look at tau protein buildup in the brains of African Americans who are either cognitively normal or have dementia. Researchers hope to learn how these brain changes differ across racial groups. The study involves 240 participants and uses a t…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This Stanford study is testing whether non-intrusive sensors placed in the home can automatically track neuropsychiatric symptoms like mood changes and agitation in older adults. Researchers will enroll 25 participants with or at risk of mild cognitive impairment or dementia, alo…

This study looks at tobacco, cannabis, and other drug use among homeless and at-risk youth in downtown Ottawa. Researchers will follow 520 participants aged 16 and older who are homeless or insecurely housed and have a history of cannabis use and mental illness. The goal is to un…

This study aims to test a risk assessment screening and a caregiver coaching program to prevent elder abuse in people with dementia. Researchers will compare caregivers who receive the screening and coaching to those who do not, looking at stress, depression, and anxiety. The goa…

The PorchLight Project tests whether training senior volunteers can improve care for people with memory loss or Alzheimer's disease. Over 340 volunteers and clients in Minnesota are taking part. The training includes online modules, a course, and monthly check-ins. Researchers wi…

This study follows 192 teens aged 12 to 20 who are already receiving either Cognitive Behavioral Therapy (CBT) or Brief Strategic Therapy (BST) for anxiety, depression, or OCD. Researchers will track their progress using questionnaires and interviews over 9 months. The goal is to…

This study is testing whether simple blood tests can accurately diagnose dementia in everyday clinic settings. Over 3,000 people aged 45 and older with memory problems will give blood samples and answer questionnaires. Researchers will check how reliable and acceptable these bloo…