Biomarkers for Hunter Syndrome

Status Terminated

Clinical Trial Summary

International, multicenter, observational, longitudinal study to establish Hunter Syndrom biomarker/s and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s

Clinical Trial Description

Mucopolysaccharides are long chains of sugar carbohydrates, found within the cells that help build bone, cartilage, tendons, cornea, skin, and connective tissue. Glycosaminoglycans (GAGs) are also found in the fluids that lubricate joints. Mucopolysaccharidosis (MPS) are part of the Lysosomal Storage Disorder (LSD) family, a group of more than 40 genetic diseases, and occur when a particular enzyme exists in a small quantity or is missing altogether. The effect is the accumulation of GAGs in the cells, blood, and connective tissues, resulting in permanent and progressive cellular damage which affects appearance, physical abilities, organ and system functioning and, in most cases, mental development. MPS2 (also called Hunter syndrome) is a hereditary, progressive, multisystemic disorder, caused by mutations in the IDS gene coding for the enzyme iduronate sulfatase (Ids). It is the only type of mucopolysaccharidosis that is X-linked, therefore, if mothers are carriers, there is a 50 percent chance for males to be born with the disease. MPS2 has a wide range of symptoms that vary in severity, which can be managed with enzyme replacement therapy (ERT). ERT is unable to cross the blood-brain barrier, therefore it addresses strictly extra-neurological manifestations. On this note, further efforts are being made to develop novel therapies, in the attempt to stop the disease progression and to offer a better quality of life to the patients. As MPS2 is very rare and many medical professionals only see a few or no patients in their lifelong practice, genetic testing is crucial for diagnosis. This study thrives to identify, validate, and monitor potential biomarker/s for MPS2 in genetically confirmed samples. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT01330277
Study type	Observational
Source	CENTOGENE GmbH Rostock
Contact
Status	Terminated
Phase
Start date	August 20, 2018
Completion date	December 31, 2022

View Details

See also
Status	Clinical Trial	Phase
Withdrawn	`NCT05238324` - Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II	Phase 1
Completed	`NCT03529786` - Mucopolysaccharidosis Type II Natural History
Recruiting	`NCT02254863` - UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells	Phase 1
Terminated	`NCT01675674` - Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics	N/A
Enrolling by invitation	`NCT06075537` - An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007	Phase 2/Phase 3
Recruiting	`NCT05422482` - A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients With MPS Ⅱ	Phase 1
Completed	`NCT00069641` - Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)	Phase 2/Phase 3
Recruiting	`NCT05687474` - Baby Detect : Genomic Newborn Screening
Active, not recruiting	`NCT04348136` - An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II	Phase 2/Phase 3
Completed	`NCT04007536` - A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome
Completed	`NCT00004454` - Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome)	Phase 1/Phase 2
Active, not recruiting	`NCT04628871` - Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX
Terminated	`NCT00748969` - Clinical Trial of Growth Hormone in MPS I, II, and VI	Phase 2/Phase 3
Recruiting	`NCT05619900` - Registry of Patients Diagnosed With Lysosomal Storage Diseases
Completed	`NCT01301898` - To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients	Phase 1/Phase 2
Terminated	`NCT03041324` - Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II	Phase 1/Phase 2
Enrolling by invitation	`NCT05368038` - ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Completed	`NCT03128593` - A Study of JR-141 in Patients With Mucopolysaccharidosis Type II	Phase 1/Phase 2
Withdrawn	`NCT04591834` - Mucopolysaccharidosis Type II Observational
Enrolling by invitation	`NCT04597385` - Long-term Follow-Up for RGX-121

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Biomarkers for Hunter Syndrome — BioHunter

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms