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

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

ClinicalTrials.gov Identifier: NCT05294289

Novartis Reference Number: CBYL719A0US14

Last Update: Jun 21, 2022

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All compounds are either investigational or being studied for (a) new use(s). Efficacy and safety have not been established. There is no guarantee that they will become commercially available for the use(s) under investigation. 

Study Description

This is a mixed-methods observational study that incorporates both qualitative interviews and quantitative data collection through a web-based longitudinal survey (day 1, months 2 and 4).

Condition 
PIK3CA-related Overgrowth Spectrum
Phase 
Not Given
Overall status 
Recruiting
Start date 
May 16, 2022
Completion date 
Nov 30, 2022
Gender 
All
Age(s)
5 Years - 99 Years (Child, Adult, Older Adult)

Interventions

Other
Alpelisib
There is no treatment allocation. Patients administered alpelisib by prescription that involved in Novartis' alpelisib managed access program will be enrolled

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

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.

Study Locations

United States
Novartis Investigative Site
Recruiting
East Hanover, 07936
New Jersey
United States

Contacts

Name: 
Novartis Pharmaceuticals
Phone: 

Have a question?

Call 1-888-669-6682 or email [email protected]