Active not recruitingPHASE1, PHASE2INTERVENTIONAL

A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)

This research study, called RESOLUTE, is looking into a new treatment, SPK-3006, for adults who have late-onset Pompe disease. Pompe disease is a rare condition that affects muscles, and late-onset means it usually develops in adulthood. The study wants to find out if this new medicine is safe and if it can help people's symptoms. All participants will have already been receiving standard enzyme replacement therapy (ERT) for at least two years. The main goal is to check for side effects and see how well the treatment works after a single dose given into the blood. Researchers will start with a small group of people and slowly increase the dose for new groups, all while closely monitoring everyone's health.

At a glance

Status

Active not recruiting

Phase

PHASE1, PHASE2

Sponsor

Spark Therapeutics, Inc.

Enrolment target

Start

01 Oct 2020

Estimated completion

01 Apr 2032

Pompe Disease Pompe Disease (Late-onset)Glycogen Storage Disease Type 2 Glycogen Storage Disease Type II LOPD Lysosomal Storage Diseases Acid Maltase Deficiency

What is this study about?

This study is called RESOLUTE and it's looking for new ways to help people with a condition called late-onset Pompe disease. Pompe disease is a rare genetic condition where the body can't properly break down a sugar molecule called glycogen, which then builds up in cells, especially in muscles. This can make muscles weak and cause other health problems. 'Late-onset' means the symptoms usually start during teenage years or adulthood.

Currently, many people with Pompe disease are treated with something called enzyme replacement therapy (ERT). This study is testing an experimental new medicine, SPK-3006, which works differently from ERT. It's a type of 'gene therapy,' which means it aims to help the body make the missing enzyme itself, rather than needing regular infusions of the enzyme from outside the body.

The main goals of this study are to make sure SPK-3006 is safe for people to use and to see if it can improve their symptoms. All participants will receive a single dose of SPK-3006 into their blood. Researchers will then closely monitor their health, how their body reacts to the treatment, and if their Pompe disease symptoms get better over time. They will start with small doses in a few people and gradually increase the dose for new groups, all under careful medical supervision.

Key takeaways

This study is testing a new gene therapy (SPK-3006) for adults with late-onset Pompe disease.
It aims to check the safety and potential benefits of a single dose of the medicine.
Participants must have been on standard ERT for at least two years.
Close monitoring for side effects and treatment response will be carried out.
Participation involves regular clinic visits for blood tests and health checks.

Who may be eligible?

To join this study, you need to be an adult (18 years or older) with late-onset Pompe disease. You must have been receiving your usual enzyme replacement therapy (ERT) for at least two years and your condition should be considered 'moderate'. You also need to be able to understand the study and agree to take part in writing. If you can become pregnant, you'll need to agree to use reliable birth control during the study.

There are also some reasons why you might not be able to join. For example, if you have certain other serious health conditions like active hepatitis B or C, significant liver problems, HIV, or a history of liver cancer. You also can't take part if you currently have an active infection, are pregnant or breastfeeding, or if you've had a bad reaction to similar treatments in the past. If you need a breathing machine all the time while awake, or if you've already had gene therapy before, you also wouldn't be able to join.

Quick self-check

Are you 18 years old or older?
Do you have late-onset Pompe disease?
Have you been receiving enzyme replacement therapy (ERT) for at least 2 years?
Do you have no active serious infections or liver problems?
Are you able to use reliable birth control if you can become pregnant?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in this study, you'll first have some careful checks to make sure you're suitable. Once enrolled, you will receive a single dose of the new medicine, SPK-3006, directly into your blood. After this, you'll have regular visits to the clinic for assessments. These will include blood tests, physical examinations, and tests to see how your muscles and breathing are working. The team will be watching closely for any side effects and how your body responds to the treatment. The total duration of your participation in the study will be determined by how long researchers need to follow up on the effects of the single dose.

Potential risks and benefits

Participating in this study might offer a potential benefit if SPK-3006 proves to be an effective treatment for late-onset Pompe disease, potentially improving your symptoms or quality of life. However, it's important to remember that this is a new medicine, and like all treatments, there are potential risks and side effects that are not fully known yet. These could range from mild discomfort to more serious reactions. The study team will explain all known risks to you in detail. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (29)

Barrow Neurological Institute
Phoenix, United States
University of California Irvine Health
Orange, United States
Emory University School of Medicine
Atlanta, United States
University of Kansas Medical Center Research Institute
Kansas City, United States
University of Minnesota
Minneapolis, United States
Oregon Health & Science University
Portland, United States
University of Pennsylvania
Philadelphia, United States
University of Pittsburgh Medical Center
Pittsburgh, United States
University of Utah
Salt Lake City, United States
Lysosomal and Rare Disorders Research & Treatment Center
Fairfax, United States
Vancouver General Hospital
Vancouver, Canada
The Ottawa Hospital
Ottawa, Canada

+17 more sites — see the official record for the full list.

Common questions

What is late-onset Pompe disease?

It's a rare genetic condition where your body can't properly break down a sugar called glycogen, causing muscle weakness and other problems, usually starting in adulthood.

What is SPK-3006?

SPK-3006 is an experimental new medicine, a type of gene therapy, being tested to see if it can help the body produce the missing enzyme in Pompe disease.

Will I still take my current medicine if I join?

Yes, you generally need to have been on your usual enzyme replacement therapy (ERT) for at least two years to be considered for this study.

How will the medicine be given?

You will receive a single dose of SPK-3006 directly into your blood, usually through a drip.

How long will I be in the study?

The study involves a single dose of the medicine followed by regular check-ups and monitoring for a period that the research team will explain to you.