health-related quality of life, symptom severity, and pain among patients with pik3ca-related overgrowth spectrum: a mixed-methods observational study

Conditions: PIK3CA-related Overgrowth Spectrum

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).

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.

Keywords: pik3ca-related overgrowth spectrum pros alpelisib nis