Hypothetical Patient Profiles

Surgical history

Surgery to debulk mass on lower back

Genomic testing

Genomic testing was performed on tissue removed during his debulking surgery, but a PIK3CA mutation was not identified

Histology

Lipomas with lymphatic malformation

Imaging

• MRI revealed several subcutaneous fluid collections

• Mild central spinal stenosis, without evidence of cord compression, was found

Referral

Matt’s pediatrician placed a referral to Dr Williams, who is part of a multidisciplinary team at a vascular anomalies center and familiar with treating PROS.

Physical evaluation

Dr Williams took a detailed medical history and performed a comprehensive physical examination.

Based on the following signs and symptoms, he tentatively diagnosed Matt with CLOVES syndrome:

• Congenital onset of symptoms

• Mosaic tissue overgrowth

• Skin lesions

• Skeletal anomalies, macrodactyly, and scoliosis

Genetic testing

To confirm the diagnosis, Dr Williams repeated genetic sequencing from a fresh tissue biopsy to try to identify a genetic mutation driving his condition and discuss appropriate treatment options.

• A tissue biopsy was obtained from his port-wine–stained truncal mass

• Genetic sequencing revealed a kinase domain mutation in PIK3CA

• Identification of this mutation confirmed the diagnosis

Matt was formally diagnosed with CLOVES syndrome, and Dr Williams discussed a treatment plan with his caregiver that included starting VIJOICE.

• Matt was started on 50 mg of VIJOICE¹

• Tablets were administered once daily, at the same time, with food, and prepared as an oral suspension due to his inability to swallow pills¹

• He received an MRI to establish a baseline for the size of his lesion prior to beginning treatment¹

• His clinical symptoms were monitored throughout treatment¹

ARs

After taking VIJOICE for 2 weeks, Matt experienced grade 1 diarrhea.¹

• Management: VIJOICE was continued, and he was started on an antidiarrheal. His electrolytes were monitored closely

• Response: After a week, Matt’s symptoms improved, and he was able to discontinue use of the antidiarrheal without recurrence

Improvement^1-3

Matt has been on VIJOICE for 24 weeks and has demonstrated:

• 20% reduction in overgrowth target lesion volume

• Functional improvement,* including increased mobility, less fatigue, and reduced pain, as measured by CTCAE grading

Future treatment plan¹

Matt will continue receiving VIJOICE until disease progression or until VIJOICE is no longer tolerable.

Surgical history

• Surgery to debulk mass on lower back

Genomic testing

• Linda has a confirmed PIK3CA mutation from tissue biopsy

Treatment history

• Vascular embolization at 5, 10, and 21 years of age

Imaging

• Recent imaging of the abdomen, pelvis, and lower limbs revealed:

  • Varicosities in the right pelvis, extending into the lower right leg and on the spleen and liver

  • Hemihypertrophy of the right femur

• Although Linda’s overgrowth was present at birth, her parents struggled to get a diagnosis until she was 4 years of age, when she was referred to an HCP familiar with overgrowth disorders

• Linda was diagnosed with KTS based on physical examination and genomic testing

  • PIK3CA mutation

  • Vascular malformations, including a port-wine stain on skin varicosities

  • Soft tissue and bone hypertrophy

• Linda was started on 250 mg of VIJOICE¹

• Tablets were administered once daily, at the same time, with food, and swallowed whole¹

• She received an MRI to establish a baseline for the size of her lesion prior to beginning treatment¹

• Her clinical symptoms were monitored throughout treatment¹

ARs

After taking VIJOICE for 12 weeks, Linda experienced grade 2 hyperglycemia, as indicated by an FPG of 190 mg/dL.¹

• Management: Treatment with VIJOICE was continued, and Linda was started on metformin

• Response: After 7 days, Linda’s FPG decreased to 130 mg/dL, and she was able to continue VIJOICE. Her HCP will continue to monitor her FPG

Improvement^1-3

Linda has been on VIJOICE for 24 weeks and has demonstrated:

• 8% reduction in overgrowth target lesion volume

• Functional improvement,* including reports of less pain with improved CTCAE grading or limb asymmetry, disseminated intravascular coagulation,^† and vascular malformation

Future treatment plan¹

Linda will continue receiving VIJOICE until disease progression or until VIJOICE is no longer tolerable.

Surgical history

• She underwent surgical debulking at 6 years of age, but the mass returned

• At 13 years of age, Ava had a second surgical debulking

Genomic testing

• Ava has a confirmed PIK3CA mutation from tissue biopsy

Histology

• Histologic staining of excised tissue confirmed lipomatous overgrowth

Imaging

• CT and MRI revealed normal bone structure beneath the growth and confirmed hyperplasia of the subcutaneous tissue

• Ava’s overgrowth was present at birth, and she was initially diagnosed with a nonspecific overgrowth disorder

• Her parents and medical team initially delayed treatment and agreed to wait and watch until surgical debulking became necessary, at which time tissue could be obtained for sequencing as part of a medically necessary resection

• Ava was diagnosed with FIL at 6 years of age based on physical examination and genomic testing

• Ava was started on 50 mg of VIJOICE¹

• Tablets were administered once daily, at the same time, with food, and swallowed whole¹

• She received an MRI to establish a baseline for the size of her lesion prior to beginning treatment¹

• Her clinical symptoms were monitored throughout treatment¹

Dose increase¹

• After 24 weeks on VIJOICE, Ava underwent a dose increase to 125 mg in order to optimize her treatment response

ARs

After taking VIJOICE for 26 weeks, Ava experienced grade 2 diarrhea.¹

• Management: Treatment with VIJOICE was temporarily interrupted. Ava was treated with antiemetic and antidiarrheal products, fluid replacement, and electrolyte supplements

• Response: She improved to grade 1 after 1 week and resumed VIJOICE at the same dose. After 2 weeks, the AR recurred at grade 2. Ava was managed in the same way and, once she recovered, resumed VIJOICE at a reduced dose of 50 mg

Improvement^1-3

Ava has been on VIJOICE for 28 weeks and has demonstrated:

• 5% reduction in overgrowth target lesion volume

• Functional improvement,* including improved lipomatosis in her cheek resulting in improved facial asymmetry and less pain and fatigue

Future treatment plan¹

Ava will continue receiving VIJOICE until disease progression or until VIJOICE is no longer tolerable.