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Phase 2
Age: 2Years - 40Years
All Genders
ID05577754
Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-Capillary Malformation Polymicrogyria Syndrome (MCAP)
Led by Centre Hospitalier Universitaire Dijon · Updated on 2026-02-24
20
Participants Needed
13
Research Sites
N/A
Total Duration
On this page
Sponsors
C
Centre Hospitalier Universitaire Dijon
Lead Sponsor
N
Novartis Pharmaceuticals
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are evaluating the efficacy and safety of alpelisib (BYL719) in both children and adults diagnosed with Megalencephaly-Capillary Malformation Polymicrogyria Syndrome (MCAP), a neurodevelopmental disorder. This Phase II trial includes a 6-month double-blind, placebo-controlled period followed by an open-label treatment phase, aiming to provide a total of 24 months of treatment. The study focuses on assessing behavioral and neurological improvements and monitoring safety in participants aged 2 to 40 years. Participants will be randomly assigned to receive either alpelisib or a matching placebo once daily during the first 6 months. After this period, all participants enter an open-label phase where they receive alpelisib for up to 24 months. Dose adjustments may occur for children aged 5 and older depending on their response and tolerance. Optional lumbar punctures and blood samples will be collected between 6 and 24 months to analyze drug levels. Throughout the study, participants will be followed monthly at local centers with regular clinical, biological, neuropsychological, and functional assessments at baseline and every 6 months. Brain volumetric MRI scans will be performed at the start and after 24 months. The main outcome measured is the proportion of participants showing improvement on the Vineland II Adaptive Behavior Scale after 24 months. Safety and other neurological and quality of life measures will also be monitored. Participants may discontinue treatment early for toxicity, disease progression, or other reasons.
CONDITIONS
Brief Title
Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)
Who Can Participate
Age: 2Years - 40Years
All Genders
Eligibility Criteria
You may qualify if you...
- Signed informed consent and assent (when applicable) before any study procedures
- Male or female patients aged 2 to 40 years at time of consent
- Diagnosis of MCAP with neurodevelopmental disorder presentation
- Documented mutation in the PIK3CA gene confirmed by DNA-based test
- Adequate bone marrow and organ function as assessed during screening
- Able to swallow study medication form appropriate for age
- Negative pregnancy test for women of child-bearing potential
- Male patients with pregnant or potentially pregnant partners agree to use condoms during and one week after treatment
- Optional signed consent for lumbar puncture for exploratory study
You will not qualify if you...
- Previous treatment with alpelisib
- Known gastrointestinal conditions affecting drug absorption
- Uncontrolled diabetes mellitus at time of consent
- Hypersensitivity to PI3K inhibitors or alpelisib excipients
- Severe or uncontrolled medical conditions contraindicating alpelisib
- Participants unwilling to use effective contraception or abstinence as required
- Treatment with mTOR or PI3K-AKT inhibitors within one month before inclusion
- History or ongoing malignancy within 5 years, except certain treated cancers
- Use of strong CYP3A4 inducers or BCRP inhibitors that cannot be stopped
- Major surgery within 3 months prior to consent
- History of serious skin reactions like Stevens-Johnson syndrome
- For participants 6 years or older: documented pneumonitis or interstitial lung disease with impaired lung function
- For participants 2 to 5 years old: suspicious pneumonitis or interstitial lung disease on MRI
- History of acute or chronic pancreatitis
- Significant heart disease or abnormal cardiac tests
- Creatinine clearance below 70 ml/min/1.73 m²
- Participation in another interventional trial within 3 months
- Not affiliated with a national health insurance scheme
- Inability to give informed consent
- Inability to attend all trial visits
- Contraindications to lumbar puncture for optional consent including intracranial hypertension, infection, coagulation disorders, or low platelets
AI-Screening
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Your Study Journey
Screening
Duration - Up to 90 days
Participants are screened for eligibility to participate in the trial.
1 visit (in-person) for eligibility assessment
Treatment
Duration - 6 months for double-blind period followed by up to 18 months open label period, totaling 24 months
Participants receive either alpelisib or placebo daily for the first 6 months. After 6 months, all participants receive alpelisib in an open label period up to 24 months total treatment duration.
Monthly visits in local centres and assessments every 6 months
Follow-up
Duration - 24 months concurrent with treatment duration
Participants are monitored with clinical, biological, neuropsychological, and functional evaluations at baseline, every 6 months, and volumetric MRI at baseline and 24 months.
Assessments at baseline, 6, 12, 18, and 24 months; MRI at baseline and 24 months
Trial Site Locations
Total: 13 locations
1
CHU Amiens
Amiens, France, 80054 Amiens
Actively Recruiting
2
CHU d'Angers
Angers, France, 49933
Actively Recruiting
3
CHRU Brest
Brest, France, 29200
Not Yet Recruiting
4
HCL - Groupement Hospitalier Est Hôpital Femme-Mère-Enfant
Bron, France, 69677
Actively Recruiting
5
Chu Estaing
Clermont-Ferrand, France, 63003
Actively Recruiting
6
Chu Dijon Bourgogne
Dijon, France, 21000
Actively Recruiting
7
CHU Dijon Bourgogne - CIC-P
Dijon, France, 21079
Active, Not Recruiting
8
CHU de Lille
Lille, France, 59037
Actively Recruiting
9
CHRU Nîmes
Nîmes, France, 30029
Actively Recruiting
10
AP-HP Hôpital Necker-Enfants Malades - CIC
Paris, France, 75015
Active, Not Recruiting
11
AP-HP Hôpital Necker-Enfants Malades
Paris, France, 75015
Actively Recruiting
12
CHU Rennes
Rennes, France, 35023
Actively Recruiting
13
CHRU Tours
Tours, France, 37044
Actively Recruiting
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Research Team
L
Laurence OLIVIER-FAIVRE
How is the study designed?
Study Type
INTERVENTIONAL
Masking
DOUBLE
Allocation
RANDOMIZED
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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Published Research Related To This Trial
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.
Maxime Luu, Pierre Vabres, Aurélie Espitalier...
https://pubmed.ncbi.nlm.nih.gov/39806603