An Online Survey of Caregivers for Patients with DUP15q Syndrome
Abstract number :
3.43
Submission category :
7. Anti-seizure Medications / 7E. Other
Year :
2022
Submission ID :
2233015
Source :
www.aesnet.org
Presentation date :
12/5/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:29 AM
Authors :
Deirdre Neenan-Smith, MLS – Radius Health, Inc; Phyllis Chan, none – Clinical Operations – Radius Health, Inc.; Tarek El-Akkad, MD – Vice President, Clinical Affairs, Radius Health, Inc.; Sankalp Gokhale, MD – Clinical Affairs – Radius Health, Inc.; David Hebert, PhD – Executive Director, Biostatistics, Radius Health, Inc.; Carrie Howell, none – Executive Director, Dup15q Alliance; Elizabeth Messersmith, PhD – SVP, Research and Development, Radius Health, Inc.; Christopher Tait, PhD – Biostatistics – Radius Health, Inc.
This is a Late-Breaking abstract.
Rationale: Chromosome 15q11.2-13.1 duplication syndrome (Dup15q syndrome) is a clinically identifiable syndrome that results from the duplication (or multiplication) of a portion of chromosome 15. Dup15q syndrome is a rare multifaceted neurogenetic disorder with clinical symptoms such as epilepsy, including infantile spasms, hypotonia and motor delays, intellectual disability, and autism spectrum disorder (ASD). A common health risk affecting a significant number of patients living with this syndrome is seizures. There are currently no U.S. Food and Drug Administration (FDA) approved medications indicated for the treatment of Dup15q syndrome-induced seizures. Seizures in many patients are controlled by currently available anti-epileptic drugs (AEDs); however, despite advances with current AEDs, there remains a clinical unmet need for fully effective control of seizures in Dup15q patients which has not been assessed. Data from the medical literature on unmet medical need to control epilepsy in Dup15q syndrome is not current. To better understand seizure control in this group of patients an assessment via online caregiver survey, distributed by the Dup15q Syndrome Alliance, was conducted to better understand seizures related to Dup15q, particularly the seizure frequency patients experience after treatment with available AEDs.
Methods: A 10-question online survey was developed to obtain de-identified data from caregivers of patients with Dup15q syndrome. The survey included items such as establishing the presence of seizures in respondents, seizure type, number of AEDs used, and seizure frequency over the previous one, two, and four months.
Results: Results were analyzed from the 264 responses received. Responses indicated that most patients (greater than 75%) experienced some type of seizure within the past two years. The most common seizure type reported was absence seizure, followed by tonic-clonic, tonic, and atonic seizures. Most patients reported taking at least one AED (not including rescue meds) currently, with the majority taking two or three concomitant AEDs, and less commonly more than three AEDs concurrently. The respondents reported that approximately 46% and 52% of patients had 4 or more seizures (excluding the myoclonic and absence seizures) in the preceding 2 months and 4 months, respectively. This percentage increased to 49% and 54% for 3 or more seizures in the preceding 2 and 4 months, respectively.
Conclusions: Results from this caregiver survey provides new information that there is a subset of Dup15Q patients that still had a high seizure burden, despite taking currently approved AEDs. This supports that there is a continued unmet need for new therapies in this patient population.
Funding: No outside funding was received in support of this abstract.
Anti-seizure Medications