Chordoma is a very rare cancer, diagnosed in only around one in a million people each year. It develops slowly, close to critical structures in the spine and skull base, meaning treatment can be complex and the path to diagnosis long. With limited therapeutic options and a high risk of recurrence, continued oncology-led clinical research is essential to improving outcomes for people affected by this rare disease.
What Is Chordoma?
Chordoma is a malignant bone tumour that arises from remnants of the notochord, a structure involved in early spinal development. Although it accounts for only a small proportion of primary bone cancers, chordoma is the most common tumour of the sacrum and cervical spine.
Around 50% of cases occur in the sacrum, around 30% at the skull base, and 20% in the mobile spine. It typically presents in adults in their 50s and 60s, and men are affected about twice as often as women. Despite its slow-growing nature, chordoma is challenging to treat due to its proximity to the brainstem, spinal cord, and major nerves.
Three subtypes are recognised:
- Conventional chordoma, the most common form
- Dedifferentiated chordoma, a more aggressive variant
- Poorly differentiated chordoma, often associated with SMARCB1/INI1 loss and seen more frequently in younger patients
More than 95% of patients have a single-letter variation in the brachyury gene (TBXT), which increases susceptibility but does not cause the disease on its own.
Chordoma Symptoms
Because chordoma grows slowly, symptoms often develop gradually. They vary based on the tumour’s location, but commonly include pain and neurological changes.
Skull base chordomas may cause:
- Headaches
- Double vision
- Facial numbness or weakness
- Difficulties with speech or swallowing
Mobile spine chordomas may lead to:
- Pain, tingling or numbness in the limbs
- Fatigue
- Reduced mobility
Sacral chordomas frequently cause:
- Lower back or tailbone pain
- Changes to bowel or bladder function
- A palpable lump in the lower back or pelvis
Chordoma Symptoms can persist for years before diagnosis, as they often resemble those of more common spinal or neurological conditions.
How is Chordoma Treated?
Current chordoma treatment focuses on local control of the tumour.
Surgery is the main treatment approach, aiming to remove as much of the tumour as safely possible. However, complete removal may not always be achievable due to the tumour’s proximity to critical nerves and the spinal cord.
Radiotherapy, often delivered after surgery, can help reduce the risk of regrowth. Advanced radiotherapy techniques, such as proton beam therapy, allow higher doses to be directed towards the tumour while limiting exposure to surrounding tissues.
Chemotherapy is generally not effective for conventional chordoma, but may be used in rare dedifferentiated cases. Research into targeted therapies and immunotherapies is ongoing, particularly for patients whose tumours express specific molecular features.
Chordoma Life Expectancy
Chordoma life expectancy varies widely and depends on factors such as tumour location, subtype, patient age, and how much of the tumour can be removed surgically. Recurrence is common, and around 30-40% of patients will eventually experience metastasis, most often to the lungs, liver, lymph nodes or bone.
While prognosis is highly individual, many patients live for a decade or more with appropriate treatment. Early diagnosis and access to specialist care are key to improving long-term outcomes.
Why Research Is Essential in Chordoma
Chordoma’s rarity, anatomical complexity and tendency to recur present significant challenges for treatment development. Because patient numbers are so small and disease progression can vary, generating robust clinical evidence requires well-designed trials and close collaboration across specialist centres.
Molecular profiling has revealed differences between chordoma subtypes, highlighting opportunities for precision therapies. As research advances, clinical trials will play a central role in establishing new standards of care and expanding treatment options for patients.
Advancing Outcomes for People with Chordoma
Progress in chordoma research relies on sustained collaboration between clinicians, researchers, industry partners and patient communities. As new therapeutic approaches continue to emerge, high-quality clinical studies will be essential to understanding their value and improving outcomes for people affected by this rare and challenging cancer.
How Specialist CRO Support Helps Advance Research in Rare Diseases
Clinical research in rare cancers such as chordoma depends on carefully designed studies, coordinated international recruitment, and long-term follow-up to capture meaningful outcomes. These challenges highlight the importance of experienced partners who understand the demands of working with small and diverse patient populations.
At Simbec-Orion, we deliver full-service clinical development solutions across a wide range of therapeutic areas, including expertise in rare diseases and oncology. Our teams support sponsors with the scientific, regulatory and operational knowledge needed to run high-quality studies, from first-in-human research through to Phase III. To learn more about our services, contact us through our online form.
Frequently Asked Questions About Chordoma
Is chordoma a rare disease?
Yes. Chordoma is classified as a rare disease, diagnosed in around one in a million people each year. Patient numbers are extremely small, and cases are spread across many countries, meaning research and treatment often require international collaboration.
What causes chordoma?
Most chordomas occur at random, although more than 95% of patients have a variation in the brachyury (TBXT) gene that increases susceptibility. This genetic change does not directly cause the disease, and familial cases remain very uncommon.
What are the main symptoms of chordoma?
Symptoms depend on where the tumour develops. Skull base tumours may cause headaches, double vision or difficulties with swallowing. Tumours in the spine or sacrum can lead to back pain, limb weakness, numbness or changes in bowel or bladder function.
Are there chordoma clinical trials available?
Ongoing chordoma clinical trials are investigating new treatment approaches, including targeted therapies, immunotherapies and precision radiotherapy techniques. Because chordoma is a rare disease, these studies often involve specialist centres and international networks to ensure sufficient enrolment.