EVERY STORY MOVES RESEARCH FORWARD.
Five families. One Global Study. A future we can change together.
Every person living with TANGO2 Deficiency Disorder has a story—and within every story are clues that can help researchers understand this rare disease.
Through the TANGO2 Natural History Study, families around the world are helping researchers turn their experiences into data, discoveries and better care.
This year, your gift to the TANGO2 Innovation Fund can help us learn more. Discover more. And change what’s possible for every TANGO2 family.
Every family contributes knowledge. Every gift moves research forward.
Turn patient experience into discovery—and discovery into better care.
Sebby from United Kingdom: From limited mobility to climbing
For years, Sebby experienced episodes of extreme fatigue, weakness, and developmental delays that no one could explain. Genetic research finally ended his family’s six-year search for answers with a TANGO2 diagnosis. Today, that knowledge helps his family and medical team better understand his needs while he builds independence and enjoys swimming, horse riding, farming, and school. Continued research offers hope for more effective care—and a healthier future for Sebby and every child with TANGO2.
Ellie from Texas, USA: Surviving, recovering, and thriving
Ellie spent years facing unexplained developmental delays, frightening episodes, and a severe metabolic crisis that kept her hospitalized for 58 days. Genetic research finally gave her family a TANGO2 diagnosis—and with it, access to a community, vital knowledge, and greater hope for her future. Today, research is helping families like Ellie’s better understand the condition, prepare for medical challenges, and pursue care that helps children live safer, fuller lives.
Sarah Luck from Australia
Coming Soon!
Heloisa from Brazil
Coming Soon!
Bria from Canada
Coming Soon!
Six Major Findings from the TANGO2 Natural History Study
Families Gave Us Their Stories. Research Is Giving Us Answers.
A Global Picture For Families
By bringing together 73 patients from 57 families across 17 countries, the study created the clearest picture yet of TDD. Continued participation and support will help researchers understand the condition across an even broader group of patients and unlock the next discovery.
Children Can Be Diagnosed Earlier
Researchers found that movement, balance, speech, and developmental differences often emerge between one and three years of age. Understanding these early signs help families reach a diagnosis and begin appropriate care sooner.
Crises Can Be Prevented
Among 71 patients with confirmed histories, 46 experienced 115 metabolic crises, with the first crisis occurring at a median age of three. These findings are helping researchers identify when children are most vulnerable and allow them to develop strategies to present medical emergencies
Research Can Protect The Heart
The study documented cardiac crises in 29 patients, including dangerous arrhythmias, cardiomyopathy, and cardiac arrest. Supporting this research means helping scientists find better ways to protect children from TDD’s most life-threatening complications.
A Treatment Discovery
Researchers recorded 92 crises during 602 patient-years without B-complex treatment—and zero during 44 patient-years with it. These extraordinary finding shows how family participation and research funding uncovers treatments that change lives.
Earlier Treatment Offers Hope
Research found that children who began B-complex treatment early had much milder symptoms than older siblings with the same TANGO2 variants. Another study found that 57% of treated participants reported complete resolution of movement disorders or episodic weakness—powerful evidence of what continued research could make possible for more children.
These figures are supported by the 73-patient Natural History Study, the sibling-pair study, research on vitamin B5 in TDD models, and the study of folate in patient-derived cardiac cells. GeneReviews now identifies daily supplementation containing all eight B vitamins as targeted therapy for TDD.
The Next Discover Needs You.
Gifts to the TANGO2 Innovation Fund can help:
- Enroll and follow more individuals with TANGO2 deficiency disorder
- Collect medical histories, clinical records, and family observations
- Track crises, symptoms, interventions, and outcomes over time
- Maintain the international patient registry
- Expand the blood and tissue biorepository
- Analyze data and identify meaningful patterns
- Share findings with families, physicians, and researchers
- Prepare the TANGO2 community for future clinical trials
Every participant adds an essential piece to the picture. Every year of follow-up makes that picture clearer.
Every gift helps move us closer to better treatments, better care and, ultimately, a cure.
What will the next discovery be? Help us find out.
Take Your Commitment Further
Become a Founding Member of the TANGO2 Innovare Society
Make an annual philanthropic commitment of $1,000 or more to the TANGO2 Research Foundation and become a Founding Member of our new annual giving society.
Innovare Society members provide the dependable philanthropic support that allows T2RF to pursue opportunities, invest in promising research and accelerate progress throughout the year.
$1,000 annually or $84/month
