Clinical trial NCT05294289: Health-related Quality of Life, Symptom Severity, and Pain Among Patients With PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study
Official title: Health-related Quality of Life, Symptom Severity, and Pain Among Patients Treated With Alpelisib for PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: PIK3CA-related Overgrowth Spectrum
Keywords: PIK3CA-related overgrowth spectrum
PROS
Alpelisib
NIS
Lead sponsor: Novartis
Sponsor class: INDUSTRY
First posted: 2022-03-24
Enrollment: 60
Sex: ALL
Minimum age (years): 5
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Three groups of of participants will be included:

* Adults with PROS who are capable of independently completing the required Clinical Outcome Assessments (adult self-report)
* Adolescents, between the ages of 12 and 17 (inclusive), with PROS who are capable of independently completing the required Clinical Outcome Assessments, as assessed by a legal guardian (adolescent self-report).
* Caregivers of children/adolescents with PROS (caregivers proxy-report). these must be parents or legal guardians whose children are between the ages of 5 and 11, or adolescents between the ages of 12 and 17 who are unable to independently complete the required Clinical Outcome Assessments.

Brief summary: 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).

Detailed description: This study will collect qualitative data through interviews with patients and caregivers and qualitative data through a web-based longitudinal survey.

Both parts of the study are designed to collect information on HRQoL, symptom severity, and pain among patients with PROS who are receiving treatment with alpelisib in the US. In addition, patients who have not been treated with alpelisib will also participate 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.

Fifteen participants treated with alpelisib will be recruited to take part in an hour-long, one-on-one qualitative interview scheduled by GP and conducted by a trained QM qualitative researcher. This subset of 15 participants will complete the first online assessment 1 week after the interview to prevent biasing of their survey responses due to the interview experience. Those that do not take part in the qualitative interview will be directed to complete the online survey upon enrollment (i.e., Day 1, Month 2, Month 4 in reference to time since enrollment in quantitative portion, which is independent of time since the start of treatment). All participants will be directed to complete the online survey which will be accessed through a web link.

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.

Primary outcomes:
measure: PROMIS-29 + 2 profile for adult self-report
timeFrame: Up to 4 months
measure: EQ-5D-5L for Adult self-report
timeFrame: Up to 4 months
measure: PROMIS pediatric profile for adolescent self-Report and Caregiver-Proxy
timeFrame: Up to 4 months
measure: PROMIS pediatric sleep disturbance for Adolescent Self-Report and Caregiver-Proxy
timeFrame: Up to 4 months
measure: EQ-5D-Youth for adolescent Self-Report and Caregiver-Proxy
timeFrame: Up to 4 months
measure: Global impression of symptom severity
timeFrame: Up to 4 months
measure: Modified PROMIS dyspnea severity for adult Self-Report and Adolescent Self-Report
timeFrame: Up to 4 months
measure: Brief Pain Inventory for Adult Self-Report and Adolescent Self-Report
timeFrame: Up to 4 months
Secondary outcomes:
measure: Description of change in HRQoL, symptom severity, and pain as a result of treatment
timeFrame: 4 months
Other outcomes:
Locations:
city: East Hanover
country: United States
facility: Novartis Investigative Site
state: New Jersey
Study officials:
affiliation: Novartis Pharmaceuticals
name: Novartis Pharmaceuticals
role: STUDY_DIRECTOR
References: