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

MPS I 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

 

MPS I – Genzyme Sanofi

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

 

MPS I – ArmaGen

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.

 

MPS I – Sangamo Therapeutics

Title: Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I

The purpose of the study is to evaluate the safety, tolerability of ascending doses of SB-318. SB-318 is an intravenously delivered Zinc Finger Nuclease (ZFN) Therapeutic for genome editing. It inserts a correct copy of the α-L-iduronidase (IDUA) gene into the Albumin locus in hepatocytes with the goal of lifelong therapeutic production of the IDUA enzyme.

The objectives of the study are to provide long term expression of IDUA and improve the current clinical outcome of enzyme replacement therapy (ERT) or hematopoietic stem cell transplantation (HSCT) therapy in subjects with attenuated MPS I, a recessive lysosomal storage disorder that results from mutations in the gene encoding IDUA. SB-318 is a therapeutic for ZFN-mediated genome editing which will be delivered by adeno-associated virus (AAV)-derived vectors. SB-318 is intended to function by placement of the corrective copy of the IDUA transgene into the genome of the subject’s own hepatocytes, under the control of the highly expressed endogenous albumin locus, and is expected to provide permanent, liver-specific expression of iduronidase for the lifetime of an MPS I patient.

Eligibility

Inclusion Criteria:

  • Male or female >18 years of age
  • Clinical diagnosis of attenuated MPS I deficiency (Hurler-Scheie, Scheie, or Hurlers status post-HSCT)

Exclusion Criteria:

  • Known to be unresponsive to ERT
  • Neutralizing antibodies to AAV 2/6
  • Serious intercurrent illness or clinically significant organic disease (unless secondary to MPS I)
  • Receiving antiviral therapy for hepatitis B or C, or with active hepatitis B or hepatitis C or HIV 1/2
  • Lack of tolerance to laronidase treatment with significant IARs or occurrence of anaphylaxis
  • Markers of hepatic dysfunction
  • Creatinine ≥ 1.5 mg/dL
  • Contraindication to the use of corticosteroids for immunosuppression
  • Current treatment with systemic (IV or oral) immunomodulatory agent or steroid use (topical treatment allowed)
  • Participation in prior investigational drug or medical device study within the previous 3 months
  • Prior treatment with a gene therapy product
  • Elevated or abnormal circulating α-fetoprotein (AFP)
Study Sites

The two sites are in Oakland, California and Minneapolis, Minnesota, USA

Further information available here. ClinicalTrials.gov identifier: NCT02702115.

MPS II – Sangamo Therapeutics

Title: Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II

Purpose: The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913. SB-913 is an intravenously delivered Zinc Finger Nuclease (ZFN) Therapeutic for genome editing. It inserts a correct copy of the IDS gene into the Albumin locus in hepatocytes with the goal of lifelong therapeutic production of the IDS enzyme.

Further information available here.

MPS II – ArmaGen

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.

MPS IIIB

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

MPS IIIB

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 see the following downloads:
Update from June 2016
Update from April 2017

MPS IIIB

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 on these trials see the documents below:
Update from June 2016
Update from April 2017

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