Clinical trials: Neuronal Ceroid-Lipofuscinoses
Batten Disease
An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease
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…
- Trial name
- NCT05174039
- Testing
- Miglustat 100 milligrams (mg) Oral Capsule
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Beyond Batten Disease Foundation
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Batten Disease, CLN6
Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia.
- Trial name
- Batten'sCLN6 (NCT03285425)
- Testing
- Natural history
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Emily de los Reyes
Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6
Natural History Study of 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…
- Conditions
- Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN3
- Trial name
- NCT04644549
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emily de los Reyes
ALS, Amyotrophic Lateral Sclerosis
NYSCF Scientific Discovery Biobank
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…
- Conditions
- ALS, Amyotrophic Lateral Sclerosis, Alzheimer Disease, Alzheimer Disease, Early Onset
- Trial name
- NCT06203106
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- New York Stem Cell Foundation Research Institute
Jansky-Bielschowsky Disease, Batten Disease
A Safety, Tolerability, and Efficacy Study of BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease
This Phase 2 open-label, multicenter study will evaluate the safety, tolerability, and efficacy of BMN 190 intracerebroventricular (ICV) administration every other week (qow) for a period of 144 weeks, in patients with CLN2.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT02678689
- Testing
- BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1), Intracerebroventricular access device
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 14 people
- Sponsor
- BioMarin Pharmaceutical
Neuronal Ceroid Lipofuscinosis CLN5
Gene Therapy Study for Children With CLN5 Batten Disease
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.
- Trial name
- CLN5-200 (NCT05228145)
- Testing
- NGN-101
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- Neurogene Inc.
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The 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…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
Jansky-Bielschowsky Disease, Batten Disease
An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
The Phase 1/2 study (190-201) evaluated the efficacy and safety of a 300 mg dose of BMN 190 administered every other week (qow) to patients with CLN2.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT02485899
- Testing
- BMN 190, Intracerebroventricular (ICV) access device
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 23 people
- Sponsor
- BioMarin Pharmaceutical
Neuronal Ceroid-Lipofuscinoses
Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
Neuronal 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…
- Trial name
- 3AL-CLN36 (NCT04808297)
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- IRCCS Fondazione Stella Maris
Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
An Observational Study in Children With CLN2 Batten Disease
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.
- Trial name
- NCT04462692
- Sponsor
- REGENXBIO Inc.
Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
A Retrospective, Natural History Study in Children With CLN2
This is a multi center, retrospective, chart review study to document the evolution of ocular disease progression in pediatric patients with CLN2.
- Trial name
- NCT04480476
- Sponsor
- REGENXBIO Inc.
Neuronal Ceroid Lipofuscinosis, Batten Disease
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database. 1.
- Conditions
- Neuronal Ceroid Lipofuscinosis, Batten Disease, CLN1 Disease, CLN2 Disease
- Trial name
- NCT04613089
- Testing
- Natural History
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Inflammatory Bowel Diseases, Crohn Disease
N-3 Polyunsaturated Fatty Acids Prevent Postoperative Recurrence of Crohn's Disease
Crohn's disease (CD) is a chronic recurrent intestinal inflammation involving the whole digestive tract, with high disability rate, high surgical rate and high recurrent rate postoperatively.
- Conditions
- Inflammatory Bowel Diseases, Crohn Disease, Polyunsaturated Acid Lipidosis
- Trial name
- NCT04761952
- Testing
- azathioprine, infliximab, N-3 Polyunsaturated Fatty Acids
- Volunteers
- 236 people
- Sponsor
- Sixth Affiliated Hospital, Sun Yat-sen University
Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis
Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)
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…
- Trial name
- NCT01161576
- Testing
- AAVrh.10CUhCLN2 vector 9.0x10^11 genome copies, AAVrh.10CUhCLN2 vector 2.85x10^11 genome copies
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Weill Medical College of Cornell University
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis
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.
- Trial name
- NCT01414985
- Testing
- AAVrh.10CUCLN2
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Weill Medical College of Cornell University
Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
Genotype-Phenotype Correlations of 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.
- Trial name
- NCT01035424
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Weill Medical College of Cornell University
Cancer, Cardiac Anomaly
Using NPT to Evaluate Providing PPC as ELNEC-PPC WBT for Nurses
The purpose of this study is to explain the provision of palliative care at the end of life by the implementation of the ELNEC course, as WBT Program using the Normalization Process Theory, that focus attention on how complex…
- Conditions
- Cancer, Cardiac Anomaly, Cystic Fibrosis, Muscular Dystrophy
- Trial name
- ELNEC-PPC (NCT04461561)
- Testing
- end-of-life nursing education consortium-pediatric palliative care as web based-training plus usual care
- Where
- Iraq
- Volunteers
- 172 people, healthy volunteers welcome
- Sponsor
- Altoosi University College
Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
Safety Study of a Gene Transfer Vector for Children With Late Infantile 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.
- Trial name
- NCT00151216
- Testing
- AAV2CUhCLN2 (3x10^12 particle units)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Weill Medical College of Cornell University
Juvenile Neuronal Ceroid Lipofuscinosis
Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
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.
- Trial name
- JUMP (NCT01399047)
- Testing
- Mycophenolate mofetil
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- University of Rochester