Evicenter
P&T meetings

RP-A501 (AAV9.LAMP2B)

Danon disease

Regulatory submission
BLA planned for late 2028
Last updated
300 sources

Product information and disease descriptionPlace of product in therapyDisease descriptionBurden of Danon disease

Economic impact of Danon disease on families

7 evidence topics · 10 sources

More than one affected member per family

“Ten of the 20 mothers were symptomatic (50%).” (opens the source at this quote in a new tab)

“We included eight pediatric males and one adult male from the USA, comprising eight families.” (opens the source at this quote in a new tab)

“Two of the patients in the cohort are brothers” (opens the source at this quote in a new tab)

“Prior family history of early cardiac death (prior to age 35 in males and 50 years in females) was reported in 12 (40%) families, representing a majority among those with familial disease.” (opens the source at this quote in a new tab)

“A family history of sudden cardiac death was recorded in 8 patients (29% of the cohort).” (opens the source at this quote in a new tab)

“We describe a family from Sardinia with eight affected patients (4 females and 4 males) and a novel mutation in exon 2 of the Lamp-2 gene (c.102_103delAG).” (opens the source at this quote in a new tab)

Transmission from an affected mother

“Women with a LAMP2 pathogenic variant have a 50% chance of transmitting the pathogenic variant to each child” (opens the source at this quote in a new tab)

“Sons who inherit the pathogenic variant will be affected.” (opens the source at this quote in a new tab)

Caregivers who are themselves affected: demands named by a patient organization

“As a caregiver or family member, it can be physically and emotionally challenging to care for a person with Danon Disease.” (opens the source at this quote in a new tab)

“For caregivers who are also managing their own health due to Danon Disease, maintaining daily routines while addressing personal care needs can be challenging.” (opens the source at this quote in a new tab)

“Activities such as coordinating medical appointments, managing medications, preparing meals, and maintaining employment often require careful planning and support.” (opens the source at this quote in a new tab)

Costs to families named by a patient organization

“Caring for someone with Danon Disease can involve significant costs. While health insurance (private or public, including Medicaid) may cover some costs, additional support may be available through state and federal programs.” (opens the source at this quote in a new tab)

“Additional resources may also include Supplemental Security Income (SSI), home health services, and assistance with co-pays or prescription costs.” (opens the source at this quote in a new tab)

School support arranged by parents

“Because Danon Disease is rare, most educators and school staff will be unfamiliar with it. This means you may need to take the lead in educating them.” (opens the source at this quote in a new tab)

Geographic dispersion of families and travel to specialized centers

“Travel funds to fly subjects to our site were not available; thus, only 17 subjects were able to travel to our site for direct in-person evaluations.” (opens the source at this quote in a new tab)

“one patient disenrolled due to safety concerns associated with traveling in the post-COVID-19 era.” (opens the source at this quote in a new tab)

Waiting for transplantation: family statements shown in a sponsor presentation (October 2026) and published reports

“I thought it would be for a couple days. But that turned into eight months.” (opens the source at this quote in a new tab)

“Mother of Danon patient - deterioration and mechanical support while awaiting a donor heart” (opens the source at this quote in a new tab)

“I’d lost both my mum and brother as they waited for transplants.” (opens the source at this quote in a new tab)

“Danon patient and emergency HTx recipient; daughter also has Danon - 4 affected family members across 3 generations.” (opens the source at this quote in a new tab)

“However, due to the shortage of donor hearts in Japan, patients must wait three years until they can undergo heart transplantation.” (opens the source at this quote in a new tab)

“her history of noncompliance and lack of social support jeopardized her candidacy for this option.” (opens the source at this quote in a new tab)

Caregiver time, work loss, and out-of-pocket cost: published studies

No evidence found.