Health-related Quality of Life, Symptom Severity, and Pain Among Patients With PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study

Novartis

Status

Completed

Conditions

PIK3CA-related Overgrowth Spectrum

Treatments

Other: Alpelisib

Study type

Observational

Funder types

Industry

Identifiers

NCT05294289

CBYL719A0US14

Details and patient eligibility

About

This was a mixed-methods observational study that incorporated both qualitative interviews and longitudinal quantitative data collection through an online survey (initial, 2 months, and 4 months).

Full description

This study collected qualitative data through interviews with patients and caregivers and qualitative data through a web-based longitudinal survey.

Both parts of the study were designed to collect information on HRQoL, symptom severity, and pain among patients with PROS who were receiving treatment with alpelisib in the US. In addition, patients who had not been treated with alpelisib also participated in the quantitative part of the study by providing data on HRQoL, symptom severity, and pain, collected from a single administration of the web-based survey.

Enrollment

77 patients

Sex

All

Ages

5 to 99 years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Adult patients:

At least 18 years of age
Self-reports having been diagnosed with 1 of the following syndromes:
- Klippel-Trenaunay Syndrome (KTS)
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and spinal (CLOVES syndrome)
- Isolated Lymphatic Malformation (ILM)
- Megalencephaly-Capillary Malformation (MCAP or M-CM)
- Hemimegalencephaly (HME)/Dysplastic Megalencephaly (DMEG)/Focal cortical dysplasia type II
- Hemihyperplasia-Multiple Lipomatosis (HHML)
- Facial Infiltrating Lipomatosis (FIL)
- Fibroadipose Vascular Anomaly (FAVA)
- Macrodactyly
- Hemihyperplasia (Muscular HH)
- Fibroadipose hyperplasia or Overgrowth (FAO)
- Capillary malformation of the lower lip, Lymphatic malformation of the face and neck, Asymmetry of the face and limbs, and Partial or generalized Overgrowth (CLAPO syndrome)
- Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis
Able to converse and read/answer survey questions in English
Willing and able to provide informed consent

Adolescent patients

Between the ages of 12 and 17 years
Self-reports having been diagnosed with one of the following syndromes:
- Klippel-Trenaunay Syndrome (KTS)
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and spinal (CLOVES syndrome)
- Isolated Lymphatic Malformation (ILM)
- Megalencephaly-Capillary Malformation (MCAP or M-CM)
- Hemimegalencephaly (HME)/Dysplastic Megalencephaly (DMEG)/Focal cortical dysplasia type II
- Hemihyperplasia-Multiple Lipomatosis (HHML)
- Facial Infiltrating Lipomatosis (FIL)
- Fibroadipose Vascular Anomaly (FAVA)
- Macrodactyly
- Hemihyperplasia (Muscular HH)
- Fibroadipose hyperplasia or Overgrowth (FAO)
- Capillary malformation of the lower lip, Lymphatic malformation of the face and neck, Asymmetry of the face and limbs, and Partial or generalized Overgrowth (CLAPO syndrome)
- Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis
Able to converse and read/answer survey questions in English independently, as assessed by guardian
Willing and able to provide assent
Has a parent/legal guardian who is able and willing to provide permission for the adolescent to participate

Caregivers

At least 18 years of age
Is the parent/legal guardian of a child/adolescent who has been diagnosed with one of the following syndromes:
- Klippel-Trenaunay Syndrome (KTS)
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and spinal (CLOVES syndrome)
- Isolated Lymphatic Malformation (ILM)
- Megalencephaly-Capillary Malformation (MCAP or M-CM)
- Hemimegalencephaly (HME)/Dysplastic Megalencephaly (DMEG)/Focal cortical dysplasia type II
- Hemihyperplasia-Multiple Lipomatosis (HHML)
- Facial Infiltrating Lipomatosis (FIL)
- Fibroadipose Vascular Anomaly (FAVA)
- Macrodactyly
- Hemihyperplasia (Muscular HH)
- Fibroadipose hyperplasia or Overgrowth (FAO)
- Capillary malformation of the lower lip, Lymphatic malformation of the face and neck, Asymmetry of the face and limbs, and Partial or generalized Overgrowth (CLAPO syndrome)
- Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis
Child is either between the ages of 5 and 11 (inclusive), or between the ages of 12 and 17 years (inclusive) but is unable to self-report due to cognitive difficulties
Able to converse and read/answer survey questions in English
Willing and able to provide informed consent

Exclusion criteria

There are no specific exclusion criteria. However, participants may be excluded if the quota related to alpelisib treatment (60 treated with alpelisib; 40 not treated with alpelisib) has been achieved. For example, if 40 participants not treated with alpelisib have been recruited into the study, any additional participants not treated with alpelisib will be excluded. Patients treated with alpelisib may be similarly excluded if the quota of 60 patients has already been achieved.