Status:
COMPLETED
Health-related Quality of Life, Symptom Severity, and Pain Among Patients With PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study
Lead Sponsor:
Novartis Pharmaceuticals
Conditions:
PIK3CA-related Overgrowth Spectrum
Eligibility:
All Genders
5-99 years
Brief Summary
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).
Detailed 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 in...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
May 16 2022
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 28 2024
Estimated Enrollment :
77 Patients enrolled
Trial Details
Trial ID
NCT05294289
Start Date
May 16 2022
End Date
June 28 2024
Last Update
June 24 2025
Active Locations (1)
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1
Novartis Investigative Site
East Hanover, New Jersey, United States, 07936