Your (or your loved one’s) medical records contain clues that can lead to new treatments.
AllStripes researchers learn from patient records what would truly improve quality of life.
Using cutting-edge tech we analyze your community’s data to improve trial design and chances of success.
Your community’s de-identified records can advance multiple treatment studies.
We do the work to collect all your records, at no cost, in your secure account. Access doctors’ notes you’ve never seen.
See how your rare disease journey compares to others with your condition, and what’s helping.
We’ll send you exclusive updates on the studies you’re contributing to and how you’re driving forward research.
Pompe disease is a genetic metabolic condition caused by pathogenic variants, or mutations, in the GAA gene. This leads to problems with the enzyme alpha-glucosidase, which breaks down glycogen, a complex sugar molecule. As a result, glycogen builds up in many different body tissues and causes a range of different symptoms that progress over time.
Pompe disease varies in age of onset and severity of symptoms. Patients with the classic infantile-onset type of Pompe disease experience the earliest age of symptom onset and the fastest progression. Symptoms include muscle weakness, low muscle tone, enlarged liver, heart defects, difficulties with growth and breathing problems. Untreated, this type of Pompe disease is usually fatal in infancy or early childhood. Some infants present with a slightly later onset of symptoms and slower disease progression. There is also a late-onset form of Pompe disease that does not present until later in childhood or even adulthood. This form of Pompe disease progresses much more slowly but can also be fatal. Treatment with enzyme replacement therapy can improve symptoms and prolong survival.
The latest on our research: We are jumpstarting our Pompe disease program to accelerate research for the condition. We welcome all patients, caregivers and researchers interested in participating and spreading the word to the Pompe disease community.
1. Sign up
Create your private account and review our research consent (takes about 10 minutes)
2. We get to work
We do all the behind-the-scenes work to retrieve and process your records
3. Impact research
Power multiple research projects at once by contributing your de-identified data
We believe that the only way to keep data accessible to the researchers who need it is by enabling patients to own and control their own data. Patients decide for themselves whether they want to privately and securely contribute to research, rather than having the decision made on their behalf.
We aim to make useful data accessible to all researchers who have legitimate research questions or research programs. For academic research, we offer access without charge. We take research ethics seriously, and we have policies in place to ensure that research is conducted with integrity.
We don’t like to take sides—we give all members of the community the option to get involved. Success in rare disease research takes a village and we always welcome additional collaborators who can advance and benefit from the mission.
Our primary mission is to accelerate drug development, so we prioritize generating insights specifically relevant to therapeutic research. We invest deeply in quality, security, and compliance to make this a reality.