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

NCT ID: NCT05294289

Last Updated: 2025-06-24

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 77 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-05-16
• Study Completion Date: 2024-06-28

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 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.

Conditions

PIK3CA-related Overgrowth Spectrum

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

PROS patients treated with alpelisib

Patients with PROS who receive treatment with alpelisb

Alpelisib

Intervention Type: OTHER

There was no treatment allocation. Patients administered alpelisib by prescription that were involved in Novartis' alpelisib managed access program were enrolled

PROS patients not treated with alpelisib

Patients with PROS who don't receive treatment with apelisib

No interventions assigned to this group

Interventions

Alpelisib

There was no treatment allocation. Patients administered alpelisib by prescription that were involved in Novartis' alpelisib managed access program were enrolled

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 99 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Novartis Pharmaceuticals

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Novartis Pharmaceuticals

Role: STUDY_DIRECTOR

Novartis Pharmaceuticals

Locations

Novartis Investigative Site

East Hanover, New Jersey, United States

Countries

United States

Other Identifiers

CBYL719A0US14

Identifier Type: -

Identifier Source: org_study_id