A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics,...
Jansky-Bielschowsky DiseaseBatten Disease2 moreThe 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.
Human Placental-Derived Stem Cell Transplantation
Mucopolysaccharidosis IMucopolysaccharidosis VI14 moreThe purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant disorders who require a stem cell transplant. Patients will get either full dose (high-intensity) or lower dose (low intensity) chemo- and immunotherapy followed by a stem cell transplantation with UCB and HPDSC.
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Neuronal Ceroid-LipofuscinosesNeuronal Ceroid Lipofuscinosis CLN22 moreThe 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.
Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid LipofuscinosisThe 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.
Natural History Study of Batten Disease
Batten DiseaseNeuronal Ceroid Lipofuscinosis CLN61 moreThis 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.
Collection of Cerebrospinal Fluid in Healthy Children
Late Infantile Neuronal Ceroid LipofuscinosisBatten DiseaseThe 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.
An Observational Study in Children With CLN2 Batten Disease
Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)This is a prospective, longitudinal natural history study to document the progression of ocular manifestations of CLN2 disease among a community-dwelling population of pediatric participants affected by this disease.
A Retrospective, Natural History Study in Children With CLN2
Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)This is a multi center, retrospective, chart review study to document the evolution of ocular disease progression in pediatric patients with CLN2.
Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Batten DiseaseLate Infantile Neuronal Ceroid LipofuscinosisThe 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.
Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
Neuronal Ceroid-LipofuscinosesNeuronal Ceroid Lipofuscinoses (NCL) or Batten's disease are the most common juvenile neurodegenerative disease, characterized by early blindness, movement disorders, cognitive and behavioral impairment, epilepsy, and retinopathy. This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.