38 Clinical Trials for Various Conditions
This is a prospective, non-randomized, open-label, dose escalation study of a single administration of gene therapy in children who are 3 to 9 years old with Neuronal Ceroid Lipofuscinosis (Batten) Subtype 5 (CLN5) disease.
Neuronal Ceroid Lipofuscinosis CLN5
This is an open label study in approximately 6 subjects in 2 centers to assess the safety, PK, and efficacy of the maximum tolerable dose (MTD) of oral miglustat (100 mg once daily \[QD\] to 200 mg 3 times daily \[TID\]) in subjects ≥ 17 years of age with CLN3 disease over a period of 104 weeks.
Batten Disease
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Cohort 1 (n ≈ 75) includes subjects with CLN6 Batten disease. Cohort 2 (n ≈ 120) includes subjects with juvenile CLN3 Batten disease. Additional cohorts for other Batten disease subtypes may be added in the future.
Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN3
This is a long-term safety and efficacy study in subjects with CLN6 Batten disease who previously received a single intrathecal administration of AT-GTX-501.
CLN6, Batten Disease
This is a phase 1/2, open-label, single dose, dose-escalation clinical trial to evaluate the safety and efficacy of AT-GTX-502 (previous NCH Code: scAAV9.P546.CLN3) delivered intrathecally into the lumbar spinal cord region of subjects with CLN3 Batten disease.
CLN3, Batten Disease
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want to study CLN3 more so they can improve future therapies. Objective: To identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3. Eligibility: People with CLN3. It must be based on Two CLN3 mutations OR One CLN3 mutation AND findings seen with a powerful microscope Family members of a person with CLN3. Design: Participants will have already been referred to NIH for CLN3 evaluation. If participants agree to do the study, they will: 1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if they were already collected. These may include cells, surgical specimens, and DNA. 2. will be seen by multiple healthcare specialists. Participants may provide medical records or photos. Participants will sign a release of medical records form.P Researchers may send samples or clinical data to other investigators. For research testing, the samples will not include the participant s name. For a test in a clinical lab, researchers will include the participant s name. These results will become part of the clinical record at NIH.
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy as emerging therapies like gene therapy become available.
Batten Disease, CLN6
This is a phase 1/2, open-label, single dose study to evaluate the safety and efficacy of AT-GTX-501 delivered intrathecally into the lumbar spinal cord region of participants with mild to moderate variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease).
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis (NCL) also known at Batten's disease is the most common neurodegenerative disorder in children. Families often report the patient has a sleep disturbance. This is a questionnaire to be completed by the family to better understand the sleep pattern and sleep difficulties experienced by individuals who have been diagnosed with NCL.
Neuronal Ceroid Lipofuscinosis, Batten's Disease
The purpose of this study is to determine whether BMN 190 is safe and effective in the treatment of patients with Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) disease.
Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN5, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN7, Neuronal Ceroid Lipofuscinosis CLN8, Neuronal Ceroid Lipofuscinosis CLN10, Batten Disease
The investigators propose to assess the safety and efficacy of a new administration method to deliver a biologic to children with a form of Batten disease using an experimental gene transfer procedure. This gene transfer procedure consists of delivering a good copy of the mutated gene to the nerve cells via a virus. These children are born with genetic changes called mutations that result in the inability of the brain to properly recycle proteins. The recycling failure leads to death of the nerve cells in the brain and progressive loss of brain function. Children with Batten disease are normal at birth but by age 2 to 4 have motor and vision problems which progress rapidly to death at age approximately 10 years old. There are no therapies available to treat the disease. The investigators previous clinical trial used a virus called adeno-associated virus 2 (AAV2) as the gene delivery system. That study showed that viral delivery of the gene was safe and showed small, but significant benefits to the recipient. The investigators currently have an IRB approved protocol which uses a slightly different virus called AAVrh.10 as the gene delivery system. This 3rd protocol proposes to use the same virus AAVrh.10 as the gene delivery system and has expanded the eligibility criteria.
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
The primary objective of this trial is to establish the safety and tolerability of short-term (8 weeks) administration of mycophenolate mofetil in ambulatory children with JNCL. The secondary objective is to gather preliminary evidence of the short-term (8 week) impact of mycophenolate mofetil on clinically relevant features of JNCL as measured by the Unified Batten Disease Rating Scale (UBDRS), including motor features, seizures, behavior, cognitive and functional measures. Funding source-FDA Office of Orphan Product Development (OOPD).
Juvenile Neuronal Ceroid Lipofuscinosis
The purpose of this Phase Ib study is to determine if "Human Central Nervous System Stem Cells"(HuCNS-SC) is safe to be transplanted in subjects with infantile and late infantile neuronal ceroid lipofuscinosis. The study will also measure post-transplantation disease progression.
Neuronal Ceroid Lipofuscinosis
This is a proposed follow up study on the investigators previous gene transfer human clinical trial entitled "Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children with Late Infantile Neuronal Ceroid Lipofuscinosis" (Weill Cornell IRB# 0401007010). As in the previous study, the investigators propose to administer a biologic by direct gene transfer into the brain and assess its safety on children with a fatal genetic disease of the central nervous system (CNS). The disease is Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL, a form of Batten disease). This will be accomplished by using delivery of a gene (method called gene transfer) to administer to the brain an experimental drug called AAVRh.10CUhCLN2, a gene transfer vector.
Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis
The primary aim of the study is to assess the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, rare, recessive disorder of the CNS in children. This study will be accomplished by comparing the genotype to a neurologic assessment and Weill Cornell LINCL scale, the UBDRS scale, the standardized CHQ quality of life scale, and the Mullen scale; magnetic resonance imaging (MRI); and routine clinical evaluations. This study is designed to run parallel to a separate study which is being done by the Department of Genetic Medicine, which will use gene transfer to treat the central nervous system (CNS) manifestations of late infantile neuronal ceroid lipofuscinosis.
Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
Patients with infantile or late infantile NCL have either a reduced amount of, or are missing, the palmitoyl protein thioesterase 1 (PPT1) enzyme or the tripeptidyl peptidase 1 (TPP-I) enzyme. Human central nervous system stem cells (HuCNS-SC) are an investigational product derived from human brain cells. HuCNS-SC have been shown to survive and migrate within the brains of mice. When grown in the laboratory, HuCNS-SC have been shown to produce the PPT1 and TPP-I enzymes. In mice missing the PPT1 enzyme, HuCNS-SC have been shown to increase the amount of this enzyme in the brain, to reduce the amount of abnormal storage material in the brain, and to prevent the death of some neurons (a type of cell) in the brain. Participation in this study will involve screening assessments, surgery to implant HuCNS-SC, medication to suppress the immune system, and a series of follow-up assessments. The length of time from the start of screening through to the last follow-up visit will be approximately 13 months, with frequent visits to the study center during this time. After completion of this study, patients will be monitored for an additional 4 years under a separate long term follow-up protocol.
Neuronal Ceroid Lipofuscinosis
The aim of this study is to treat the signs and symptoms of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal inherited disease in the brain. This will be accomplished by using delivery of a gene (method called gene transfer) to administer to the brain an experimental drug called AAV2CUhCLN2, a gene transfer vector.
Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
This study will examine the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL), a progressive neurological disease affecting children. At around 11 to 13 months of age, patients develop slowed head growth, mild brain atrophy (wasting), electroencephalographic (EEG) changes and retinal deterioration, with symptoms worsening over time. The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. In laboratory experiments, Cystagon has helped remove ceroid from cells of patients with INCL. Children with INCL between 6 months and 3 years of age may be eligible for this study. Participants take Cystagon daily by mouth every 6 hours. They are admitted to the NIH Clinical Center for a 4- to 5-day period every 6 months for the following tests and evaluations: * Review of medical history, including a detailed record of seizures, physical examination, blood tests and clinical photographs. For the initial baseline studies, examinations may also be scheduled with pediatric neurology, ophthalmology and anesthesia services. * Magnetic resonance imaging (MRI) of the brain MRI uses a powerful magnet, radio waves, and computers to provide detailed images of the brain without the use of X-rays. The patient lies on a table that slides inside a donut-shaped machine containing a magnetic field. The child requires general anesthesia for the procedure. * Electroretinogram (ERG) measures the function of the retina, the light-sensitive tissue in the back of the eye. To record the flash ERG, a special contact lens is placed on the eye s surface and the eye is stimulated with flashes of light. Infants and very young children require general anesthesia for the procedure. * Visual evoked potential (VEP) measures the function of the visual pathway from the eye to the brain. To record the VEP, five electrodes are placed on the scalp and the eye is stimulated with flashes of light. Infants and very young children must be anesthetized for the procedure. * Electroencephalogram (EEG) measures brain electrical activity, using electrodes placed on the scalp. The test is useful in defining seizures. The child may need to be sedated to keep still during the test. * Skin biopsy A small piece of skin is removed (usually from the upper arm or shoulder) under local anesthetic to grow cells in the laboratory. This procedure is done at the start of the study and is repeated after 1 year if therapy results are promising. Children s condition may improve, stabilize or worsen during this study. Life may be prolonged without significant improvement in quality. The information gained from the study may help scientists develop more potent drugs to treat INCL.
Infantile Neronal Ceroid Lipofuscinosis
Background: CLN3 involves vision loss observed around the preschool years, with eventual progression to blindness within 1-3 years. Researchers want to test an assistive device that may help children with CLN3 or with non-CLN3 related blindness. Objective: To learn if it is safe, easy, and useful for children with CLN3 or with non-CLN3 related blindness to use the OrCam. Eligibility: People aged 6-18 years who have either CLN3-related disease or non-CLN3 related blindness. Design: Participants will be screened with the following: Medical history Physical exam Family history Eye exam and vision tests. They will get eyedrops to dilate their eyes. Psychological and neurocognitive tests. They will be asked questions and observed for how they do various tasks, such as talking, playing, writing, drawing, and solving problems. Hearing tests. They may wear headphones or earplugs. Electrodes may be taped to their head. Blood samples Skin biopsy, if needed Cheek cell, saliva, or urine samples The OrCam is the size of and weighs about half as much as a pack of gum. It is attached to eyeglass frames by magnets. Participants will do tasks before and after they have been trained on the OrCam. They will do these tasks without or with using the OrCam. Participants will be given an OrCam to use for 1 week or 1 month. They will have check-in sessions with the study team. Participants and/or their caregivers will be asked about abilities, behaviors, social skills, learning methods, intelligence, and health-related quality of life. Participants samples may be used for genetic testing and/or to make a type of stem cell. Participation will last for 1-5 weeks.
CLN3-related Disorders, Non-CLN3 Related Low Vision
CLN5 is a form of Batten Disease, a neurodegenerative disorder in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and has no available treatments. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CLN5. This natural history study is important to better understand disease course to be able to determine clinically relevant outcome measures for use in future clinical trials.
Ceroid Lipofuscinosis, Neuronal 5
This is a multicenter, observational study for patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), also known as TPP1 deficiency, who intend to be or are currently being treated with cerliponase alfa. Patients receiving or expected to receive cerliponase alfa within 60 days of signing the informed consent form (ICF) may be eligible to enroll in the study, assuming all regulatory requirements for sites that have agreed to participate and protocol inclusion criteria are met. Data may be collected for all or some of the assessments as outlined in the protocol, dependent upon the clinic's and/or individual patient's standard of care.
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa. This study aims to validate standardized assessment measures to establish a standard of care. The secondary aim is to compare cognitive and developmental outcomes of patients with CLN2 that are receiving celiponase alfa to a natural history cohort. To accomplish specific aims of the study, the investigators will use a multi-method approach to collect retrospective data collected as standard of care and prospective developmental data in children with CLN2 disease. The investigators will use a combination of standardized measures that include direct assessment and parent report of child development. The investigators focus will also include multiple measures of development including language, motor, social-emotional, and adaptive functioning.
Batten Disease, CLN2, Neuronal Ceroid-Lipofuscinoses
The purpose of this study is to obtain cerebrospinal fluid from healthy children already undergoing a lumbar puncture procedure at New York Presbyterian Hospital, to act as healthy controls when compared to children with late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal neurodegenerative disease.
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for research on children. Two technologies-functional near-infrared spectroscopy (fNIRS) and diffuse correlation spectroscopy (DCS)-use light to detect changes in brain activity. These methods are safer, and they can be used in a more relaxed setting. In this natural history study, researchers want to find out whether fNIRS and DCS can be a good way to study people with neurocognitive disorders. Objective: To find out whether fNIRS and DCS can be useful in measuring brain activity in people with neurocognitive disorders. Eligibility: People aged 6 months or older with neurocognitive disorders. These can include Niemann-Pick disease type C1 (NPC1); creatine transporter deficiency (CTD); Smith Lemli Opitz syndrome (SLOS); juvenile neuronal ceroid lipofuscinosis (CLN3 disease); and Pheland-McDermid (PMS) syndrome. Healthy volunteers are also needed. Design: Participants will have a physical exam. They will have tests of their memory and thinking. Participants will sit in a quiet room for the fNIRS and DCS tests. A snug cap (like a cloth swim cap) will be placed on their head. The cap has lights and sensors. Another sensor will be placed on their forehead. Participants will perform tasks on a computer. This testing will take 45 to 60 minutes. The tests will be repeated within 1 to 4 weeks. Participants will be asked to return for repeat tests 1 year later....
Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
This is a phase I/II randomized, masked, clinical trial to determine the safety and efficacy of intravitreal administration of cerliponase alfa.
Neuronal Ceroid Lipofuscinosis Type 2
The purpose of this study is to gather information on the possible symptoms that patients with atypical neuronal ceroid lipofuscinosis type 2 (also known as aTPP1 or atypical tripeptidyl peptidase deficiency) have and how they change over time.
Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate diverse disease research using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and store the samples for future use. Through this research, researchers hope to identify future treatments or even cures for the major diseases of our time.
ALS, Amyotrophic Lateral Sclerosis, Alzheimer Disease, Alzheimer Disease, Early Onset, Alzheimer Disease, Late Onset, Batten Disease, Corticobasal Degeneration, Dementia, Frontotemporal Dementia, Huntington Disease, Lewy Body Disease, Multiple Sclerosis, Multiple System Atrophy, Parkinson Disease, Parkinson's Disease and Parkinsonism, Progressive Supranuclear Palsy, INAD, Diabetes, Diabetes Mellitus, Diabetes Mellitus, Type 2, Diabetes Mellitus, Type 1, Macular Degeneration, Ovarian Cancer, Cervical Cancer, Uterine Cancer, Vaginal Cancer, Vulvar Cancer, PTSD, Post Traumatic Stress Disorder
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects. Objective: To learn how the caregiving process affects the health and well-being of caregivers over time. Eligibility: Adults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities. Design: Participants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years. Participants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support. Participants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life. Participants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving. Participants may give a blood sample each year they are in the study. ...
Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs, Diabetes
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis, PKAN, Tay-Sachs Disease, NP Deficiency, Osteopetrosis, Alpha-Mannosidosis, Sandhoff Disease, Niemann-Pick Diseases, MPS IV, Gaucher Disease, GAN, GM1 Gangliosidoses, Morquio Disease, S-Adenosylhomocysteine Hydrolase Deficiency, Batten Disease, Pelizaeus-Merzbacher Disease, Leukodystrophy, Lysosomal Storage Diseases, Purine Nucleoside Phosphorylase Deficiency, Multiple Sulfatase Deficiency Disease