MedDataX Logo

The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis

NCT ID: NCT05006222

Last Updated: 2021-08-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

12 participants

Study Classification

INTERVENTIONAL

Study Start Date

2020-02-01

Study Completion Date

2021-03-27

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities, restricted joint function and ROM (range of motion), rib cage abnormalities, short stature and hip dysplasia as well as flexion contracture in the knee and interphalangeal joints and joint laxity. Currently, there is no treatment that cures the symptoms of MPS. However, there are some forms of treatment that can delay the progression of the disease. Enzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues. Very few studies in the literature have examined the impact of MPS in the lives of children affected by this disease. Studies investigating functional capacity, independence and quality of life in children receiving or not receiving enzyme replacement therapy have not provided a clear picture of the problems faced by these children. Secondly, psychological problems experienced by caregivers of children with MPS have not been studied specifically in former studies. Therefore, the aim of this study was to examine the impact of ERT on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis

NCT04112602

Mucopolysaccharidoses
COMPLETED

Longitudinal Study of Bone Disease in Children with Mucopolysaccharidoses (MPS) I, II, and VI

NCT01521429

Mucopolysaccharidoses
COMPLETED

Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type II

NCT05665166

Mucopolysaccharidosis II
RECRUITING PHASE1/PHASE2

Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)

NCT00069641

Mucopolysaccharidosis II
COMPLETED PHASE2/PHASE3

Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I

NCT02232477

Mucopolysaccharidosis I Cognitive Decline
TERMINATED NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Mucopolysaccharidosis

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

SUPPORTIVE_CARE

Blinding Strategy

DOUBLE

Participants Investigators

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

ERT group

The participants are enrolled in this group whose get enzyme replacement therapy

Group Type ACTIVE_COMPARATOR

Enzyme Replacement Agent

Intervention Type DRUG

Enzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues

non-ERT group

The participants are enrolled in this group whose not get enzyme replacement therapy

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Enzyme Replacement Agent

Enzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues

Intervention Type DRUG

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Age must be range between 3 and 11 years
* Having diagnosis of MPS.

Exclusion Criteria

* Patients refusing to participate in the study
* Patients without a definite diagnosis
* Patients and parents who are not cooperate with the study tests
Minimum Eligible Age

3 Years

Maximum Eligible Age

11 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Hasan Kalyoncu University

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Serkan Usgu

Assistant of professeur

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Yavuz Yakut, Prof

Role: STUDY_CHAIR

Hasan Kalyoncu University

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Serkan Usgu

Gaziantep, None Selected, Turkey (Türkiye)

Site Status

Countries

Review the countries where the study has at least one active or historical site.

Turkey (Türkiye)

References

Explore related publications, articles, or registry entries linked to this study.

Zhou J, Lin J, Leung WT, Wang L. A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res. 2020 Feb;9(1):1-9. doi: 10.5582/irdr.2020.01011.

Reference Type RESULT
PMID: 32201668 (View on PubMed)

Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med. 2012;5(1):37-46. doi: 10.3233/PRM-2012-0194.

Reference Type RESULT
PMID: 22543891 (View on PubMed)

Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI. Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis. 2016 Aug 26;11(1):119. doi: 10.1186/s13023-016-0503-2.

Reference Type RESULT
PMID: 27561270 (View on PubMed)

Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30.

Reference Type RESULT
PMID: 31383595 (View on PubMed)

Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014 Feb;111(2):63-72. doi: 10.1016/j.ymgme.2013.11.015. Epub 2013 Dec 11.

Reference Type RESULT
PMID: 24388732 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

2020/117

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA
NCT04201405 ACTIVE_NOT_RECRUITING PHASE1/PHASE2
Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I
NCT00912925 COMPLETED PHASE3
A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
NCT02230566 COMPLETED PHASE3
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
NCT01707433 COMPLETED
Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
NCT00215527 TERMINATED PHASE1
Efficacy and Safety of YW17 (Laronidase-CinnaGen) Compared to Aldurazyme® in MPS I Patients
NCT06406153 COMPLETED PHASE3
An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.
NCT02350816 TERMINATED PHASE2
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
NCT01675674 TERMINATED
Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)
NCT02208661 COMPLETED
A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of JWK008 in Patients With Mucopolysaccharidosis Type I
NCT06519552 RECRUITING PHASE1
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
NCT02060526 COMPLETED PHASE2
Gene Therapy in Patients With Mucopolysaccharidosis Disease
NCT03173521 COMPLETED PHASE1/PHASE2
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)
NCT05371613 RECRUITING PHASE2/PHASE3
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
NCT06075537 ENROLLING_BY_INVITATION PHASE2/PHASE3
Repurposing 5-Azacytidine for the Treatment of Muscle Contractures in Children With Cerebral Palsy
NCT06377085 ENROLLING_BY_INVITATION PHASE1
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
NCT01586871 COMPLETED
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
NCT07082543 RECRUITING PHASE3
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
NCT02432144 COMPLETED PHASE3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
NCT07082725 RECRUITING PHASE3
Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome)
NCT00004454 COMPLETED PHASE1/PHASE2
Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
NCT02095015 TERMINATED
Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
NCT02418455 COMPLETED PHASE2
GMP Drink for PKU Study
NCT02915510 COMPLETED NA
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
NCT03041324 TERMINATED PHASE1/PHASE2
Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I
NCT00786968 TERMINATED PHASE1