Clinical Trials

Clinical Trials

Clinical Trials for Mucopolysaccharide and related lysosomal diseases that are currently recruiting

Whilst the major clinical trials currently recruiting are detailed below parents and patients are encouraged to talk to their expert clinician to discuss whether there are other clinical trial opportunities. Anyone considering participating in a clinical trial is recommended to consult with their expert clinician, the clinical trial principal investigator and the MPS Society. Further information on these clinical trials is available at www.clinicaltrials.gov; www.ukctg.ac.uk

MPSI nonsense mutation

CNS Unmet Medical Need in Mucopolysaccharidosis Type I: A {Phase 2 Safety and Pharmacokinetics Study of Ataluren (COMPASS)
Sponsor – PTC Therapeutics Inc
Population Age – Children and adolescents under the age of 18 years
Study Sites in Europe – Manchester UK; Wiesbaden Germany

 

MPSI

A Multi-Centre, Multinational, Open Label Study of the effects of Aldurazyme (Laronidase) Treatment on Lactation in Women with Mucopolysaccharidosis Type I and their Breastfed Infants
Sponsor – Genzyme Sanofi
Population Age – Female Adults
Study Sites in Europe – Italy

 

MPSI

ArmaGen, Inc. is conducting a Phase 1 study of its investigational enzyme replacement therapy for Hurler syndrome, AGT-181.The study aims to test the safety and determine a well-tolerated dose of the medication in adult male patients with Hurler-Scheie and Scheie syndromes. ArmaGen’s reimbursement plan addresses travel, subsistence (meals and lodging) and stipend (given by study site institution directly to participant) based on specific patient needs. Additional information is also available at www.clinicaltrials.gov using the identifier number NCT02371226.

Currently approved treatments for Hurler syndrome are unable to cross the blood-brain barrier (BBB), a filter that prevents toxins as well as therapies from entering the brain. As a result, they do not address many of the severe and neurological complications of Hurler syndrome. AGT-181 is designed to cross the BBB in the same way insulin does.

For more information, please download the Study Design.

 

MPSII

Study of Intrathecal Idursulfase IT Administered in Conjunction with Elaprase in Paediatric Patients with Hunter Disease and Early Cognitive Impairment
Sponsor – Shire
Population – Male Children under 18 years
Study Sites in Europe – Manchester UK; Madrid Spain

 

MPSII

ArmaGen, Inc. is conducting a Phase 1 study of its investigational enzyme replacement therapy, AGT-182, in adult male patients (18 years and older) with Hunter syndrome. The study aims to test the safety and determine a well-tolerated dose of the medication. ArmaGen plans to enroll 12 patients into the study. The first cohort/group of four patients has been enrolled, and the company is now enrolling the second cohort.

ArmaGen’s reimbursement plan addresses travel, subsistence (meals and lodging) and stipend (given by study site institution directly to participant) based on specific patient needs. For a quick overview of the trial including locations, please refer to the “key facts” one page document attached.

Currently approved treatments for Hunter syndrome are unable to cross the blood-brain barrier (BBB), a filter that prevents toxins as well as therapies from entering the brain. As a result, they do not address many of the severe and neurological complications of Hunter syndrome. AGT-182 is designed to cross the BBB in the same way insulin does.  AGT-182 is designed to treat both the body-related (somatic) and central nervous system (CNS) symptoms and complications of Hunter syndrome.

 

MPSIIIB

A Retrospective Chart Review of Deceased Patients with Mucopolysaccharidoses Type IIIB
Sponsor – Alexion (previously Synageva)
Population – Deceased patients with a confirmed diagnosis of MPSIIIB
Study Sites in Europe – Birmingham UK; Netherlands; Spain

 

MPSIIIB

A Study of Mucopolysaccharidoses Type IIIB
Sponsor – BioMarin
Population – 1 – 10 years
Study Sites in Europe – Hamburg Germany; Santiago de Compostela Spain; London UK

For more information, please download the attached document.

MPSIIIB

BioMarin MPS IIIB (Sanfilippo B syndrome)
Sponsor – BioMarin
Population – 1–10 years
Study Sites – Australia, Colombia, Germany, Spain, Taiwan, Turkey, United Kingdom and will open in US later this year

For more information, please download the attached document.

Fabry

Open-Label Extension Study of the Long Term Effects of Migalastat HCL in Patients with Fabry Disease
Sponsor – Amicus Therapeutics
Population – Males and Females 16 years of age and over
Study Sites  – 35 Worldwide including Salford UK; London UK (two sites)

Dose Ranging Study PRX-102 in Adult Fabry Patients
Sponsor – Protalix
Population – Males and Females 18 years and over
Study Sites in Europe – Serbia; Spain; London UK

BALANCE Study
Sponsor – Protalix
Population – Males and Females 18-60 years who have been receiving agalsidase beta infusions
for approximately 1 year
Download the leaflet for more information
For more information patients can visit www.fabrynext.com or email patient-info@protalix.com

 

Lysosomal Acid Lipase (LALD)

Clinical Trial in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency
Sponsor – Alexion (previously Synageva)
Population – Infants 8 months and younger with a confirmed LALD Diagnosis
Study Sites in Europe – Birmingham UK; Manchester UK; Naples Italy

 

Metachromatic Leukodystophy

Natural History Study of Children with Metachromatic Leukodystrophy
Sponsor – Shire
Population – Children 12 years and under with a confirmed diagnosis of Metachromatic Leukodystrophy
Study Sites in Europe – Belgium; Denmark; France; Germany; Turkey

 

Multi-Centre Study of HGT1110 Administered Intrathecally in Children with Metachromatic Leukodystrophy
Sponsor – Shire
Population – Children up to 12 years with a confirmed diagnosis of Metachromatic Leukodystrophy
Study Sites in Europe – Denmark; France; Germany

 

The Following Fabry study is still recruiting in the USA but has closed at its three UK Sites

Evaluate the Safety, Phamacodynamics, Pharmacokinetics and Exploratory Efficacy of GZ/SAR402671 Treatment-naïve Adult Male Patients with Fabry Disease
Sponsor – Genzyme Sanofi
Population – Males 18 years to 49 years
Study Sites in Europe – Include London UK; Cambridge UK; Salford UK