You can accelerate drug development in TK2d

Important research records are trapped in hospitals across the country. As a result, drug researchers can’t access the information they need to advance treatments.

But as a patient, you can. Unlock your records and contribute them to research, privately and securely.

Questions? Check out our FAQ
By joining the TK2d program, you will help advance new research. If you know other patients or families who may be interested, you can help by sharing this link.
Mens Health Magazine
Mens Health Magazine
Village Global
Village Global
RDMD Research for TK2d is approved and monitored by an independent ethics review board called WIRB (Western Institutional Review Board). WIRB is a group of people who review research studies to protect the rights and welfare of human subjects. They provide in-depth regulatory expertise to support development of research protocols and documentation.Read more.

Why join the TK2d program?

Key benefits for you:

Reduce the time for thymidine kinase type 2 deficiency drug development

All your medical data in one place

Follow new clinical trials

Make your de-identified health information part of multiple research projects

Your dashboard
Your dashboard

For the future

For the future

Help researchers get the information they need to advance development of new drug and gene therapies.

For the TK2d community

For the TK2d community

Jumpstart research and increase knowledge and understanding of thymidine kinase type 2 deficiency.

For you

For you

See all your records in one place. Track how you are contributing to research and be notified about new clinical trials.

How it works

Sign up

1. Sign up

Create your private account and review our research consent (takes about 10 minutes)

We get to work

2. We get to work

We do all the behind-the-scenes work to retrieve and process your records

Empower research

3. Empower research

Track your contribution to research projects and, based on your records, find out if you qualify for new clinical trials based on your records

Be part of research

Questions? Check out our FAQ

Clinical trials for TK2d

Stay in the loop. We’re monitoring thymidine kinase type 2 deficiency clinical trials that may be interesting for patients. We can contact you if we find potentially matching trials, and keep you up to date if there are new trials or changes.

Join the TK2d program

Tracking 3 trials

Modis Therapeutics, Inc.Active, not recruiting

A RETROspective Study of Patients With TK2d

Modis Therapeutics, Inc.By invitation only

An Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With TK2

Columbia UniversityBy invitation only

Treatment of TK2 Deficiency With Thymidine and Deoxycytidine

See for more information

Our values & principles.

Patients own their 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 protect patient privacy

We abide by a strict research consent and privacy policy. We only share de-identified data with researchers, foundations, and therapeutic companies with patients’ consent. Protecting the privacy of patients and ensuring the security of their information is our highest priority.

Researchers gain access

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.

Inclusiveness in the community

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.

Driving forward therapeutic development

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.

How we got started

“Patients shouldn’t be bystanders in drug development.”

– Onno Faber (Founder of RDMD)

Four years ago, I started experiencing hearing loss in my left ear. Doctors prescribed me steroids, thinking it was an infection, but the deterioration did not slow down. After numerous failed treatments, a specialist finally ordered an MRI, whereupon he discovered a large tumor on my left hearing nerve. Months later, another tumor was discovered in my right hearing nerve, and another on my spine. I was diagnosed with a rare genetic disease called NF2 (Neurofibromatosis Type 2), a disease that affects only 1 in 30,000 people. It completely changed my perspective.

All my life, I’ve been a technology entrepreneur, beginning with a tech company I started in high school. I’m now applying everything I’ve learned throughout my career to build RDMD, where we’re helping to accelerate treatments for patients with rare disease. Our mission is ambitious, but I can’t imagine working on anything more important than this.

– Onno

Onno FaberPhoto Credit: from by Damien Maloney

Our work with TK2d research

Inside each of our cells are mitochondria, or the powerhouses of the cell. Their job is to make the energy the body needs to function properly, including actions like lifting your arms or inflating your lungs with each breath. This energy is referred to as adenosine triphosphate, or ATP. To make ATP, mitochondria need enzymes, a type of protein. When there is an error, or mutation in the DNA that code for the enzyme or protein, the mutation can cause a mitochondrial disease. One type of mitochondrial disease is thymidine kinase 2 deficiency, or TK2d. TK2d is a very rare inherited genetic disease that results in an enzyme deficiency that affects mitochondrial DNA (mtDNA). With TK2d, less mtDNA is being made, which means muscles don’t have enough energy and cannot function right. Symptoms of TK2d include muscle weakness (myopathy), difficulty breathing, droopy or saggy eyelids, trouble chewing and swallowing or fatigue. TK2d can present in infants, children or adults.

RDMD drives research on your condition as well as research on general health and wellness.

  • Jumpstart
  • Accelerate
  • Insights

The TK2d program is in the jumpstart stage.

Be part of research