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

Humanistic burden and health-related quality of life

10 evidence topics · 7 sources

Instruments used in the prospective study of nine males

“The PCQLI is intended for ages 8–18 and includes self-respondent and parent/proxy reporting and consists of two subscales (disease impact and psychosocial impact) that are combined to yield a total score” (opens the source at this quote in a new tab)

“A higher score on the PCQLI is correlated with a higher quality of life.” (opens the source at this quote in a new tab)

“The PQLQ includes both self-respondent and parent/proxy reporting and consists of 23 questions comprising four dimensions (physical functioning, emotional functioning, social functioning, school functioning) to yield a psychosocial health summary score, a physical health summary score, and the total score” (opens the source at this quote in a new tab)

“Total scores range from 0 to 100, with higher scores indicating better quality of life.” (opens the source at this quote in a new tab)

Pediatric Cardiac Quality of Life Inventory: patient-reported scores

“Seven of eight pediatric patients had baseline PCQLI responses (88%, n = 7), of which seven had follow-up responses (100%, n = 7). The baseline mean for the Disease Impact subscale was 25.6 ± 6.0.” (opens the source at this quote in a new tab)

“For the Psychosocial Impact Score, the mean at baseline was 28.9 ± 7.5. At last follow-up, three patients (43%, n = 3) reported lower scores.” (opens the source at this quote in a new tab)

“At last follow-up, four patients (57%, n = 4) reported lower total scores.” (opens the source at this quote in a new tab)

“For Disease Impact and Psychosocial Impact subscales, 50 is the maximum score (100 for Total Score). The mean follow-up time is 26.6 months.” (opens the source at this quote in a new tab)

Pediatric Cardiac Quality of Life Inventory: parent-reported scores

“For the parents, there were eight baseline responses (100%, n = 8), of which seven had follow-up responses (88%, n = 7).” (opens the source at this quote in a new tab)

“The baseline mean for Disease Impact was 23.8 ± 6.9, with three parents (43%, n = 3) reporting lower scores for their children at last follow up. Mean Psychosocial Impact score at baseline was 28.9 ± 9.6, with five parents (71%, n = 5) reporting lower scores at last follow-up. Finally, the mean Total Score was 52.8 ± 14.9 at baseline, and four parents (57%, n = 4) reported lower total scores for their children at last follow up.” (opens the source at this quote in a new tab)

Pediatric quality of life questionnaire: child and parent scores at baseline and last follow-up
Scale (maximum 100)Child: baseline (n = 7)Child: last follow-up (n = 5)Parent: baseline (n = 8)Parent: last follow-up (n = 6)
Physical functioning“50.0 ± 6.3”“44.8 ± 6.3”“47.1 ± 8.4”“36.5 ± 8.4”
Emotional functioning“66.7 ± 24.8”“75.0 ± 24.8”“52.9 ± 30.4”“64.3 ± 30.4”
Social functioning“54.2 ± 32.9”“70.0 ± 32.9”“44.6 ± 13.7”“52.1 ± 13.7”
School functioning“45.8 ± 30.1”“47.5 ± 30.1”“33.6 ± 9.4”“45.2 ± 9.4”
Psychosocial health summary“55.3 ± 24.7”“64.2 ± 24.7”“43.7 ± 16.0”“53.9 ± 16.0”
Physical health summary“50.0 ± 6.3”“44.8 ± 6.3”“47.1 ± 8.4”“36.5 ± 8.4”
Total“53.4 ± 17.6”“57.4 ± 17.6”“44.9 ± 8.6”“47.9 ± 8.6”

“Mean follow-up time was 28.3 months.” (opens the source at this quote in a new tab)

“Parents were more likely to describe physical decline at follow up compared to the patients themselves.” (opens the source at this quote in a new tab)

“Average difference between patient and parent total scores was 13.4 ± 9.1.” (opens the source at this quote in a new tab)

Scores in relation to healthy children and children with other chronic conditions

“The most notable findings from this study were the low scores in both instruments by both patients and parents, where average total PCQLI and PQLQ scores at baseline and follow up were < 60 for both patients and parents.” (opens the source at this quote in a new tab)

“in the PCQLI instrument, mean total score ranged between 60 and 80 in patients with congenital heart disease not requiring catheter or surgical correction” (opens the source at this quote in a new tab)

“children with cancer on treatment a mean score of 68.9 ± 16” (opens the source at this quote in a new tab)

“The overall scores reported by DD patients are substantially lower than those reported by children with serious and/or chronic illnesses.” (opens the source at this quote in a new tab)

Validation status of quality-of-life instruments in Danon disease

“Currently there are no validated approaches to assess quality of life (QoL) in this patient population.” (opens the source at this quote in a new tab)

“Further studies are needed to validate these instruments in DD patients and other multisystemic diseases that affect neurocognitive, musculoskeletal and cardiac functioning.” (opens the source at this quote in a new tab)

“Patient reported outcomes such as the PCQLI and PQLQ need to be further validated in genetic cardiomyopathies involving extracardiac systems.” (opens the source at this quote in a new tab)

Kansas City Cardiomyopathy Questionnaire and PedsQL scores by device status and functional class

“Patients with a genetically confirmed diagnosis were recruited for a three-year prospective natural history study. QoL was assessed every six months using KCCQ, PCQLI, and PedsQL questionnaires.” (opens the source at this quote in a new tab)

“Each QoL questionnaire received (n=91) was treated independently and grouped according to presence of AICD (automatic implantable cardioverter-defibrillator) and NYHA functional class at that study visit.” (opens the source at this quote in a new tab)

“10 patients were included. At study enrollment: mean age was 12 years, 90% of patients were male, 90% were Caucasian. KCCQ summary scores were lower in those with an AICD compared to those without. PedsQL total scores (both subject and parent) were found to be lower in patients reporting NYHA II or greater symptoms.” (opens the source at this quote in a new tab)

Functional class in untreated cohorts
ParameterAt baseline (n = 8)At last follow-up (n = 6)
NYHA I/II/III“3/5/1”“3/5/1”

“Forty-two patients (74%, 21 of each gender) reported symptoms of heart failure (NYHA II-IV).” (opens the source at this quote in a new tab)

FindingMale participants (n=6)Female participants (n=21)
NYHA III-IV“2 (40)”“8 (40)”
Schooling, employment, and independence

“affected males are able to learn to read, hold jobs, enter relationships, and usually live independently.” (opens the source at this quote in a new tab)

“From registry data, most boys have areas of academic weakness in mathematics and reading.” (opens the source at this quote in a new tab)

“For school functioning, baseline mean was 45.8 ± 30.1” (opens the source at this quote in a new tab)

“For school functioning, baseline mean was 33.6 ± 9.4” (opens the source at this quote in a new tab)

“Your child may qualify for either an Individualized Education Program (IEP) or a 504 Plan, depending on their specific needs.” (opens the source at this quote in a new tab)

“In the letter, briefly explain Danon Disease, how it may affect your child at school, and what to expect in terms of absences, fatigue, or medical needs.” (opens the source at this quote in a new tab)

Externally led patient-focused drug development meeting on genetic cardiomyopathies (2026)

“This meeting is hosted by the Hypertrophic Cardiomyopathy Association in partnership with the Danon Foundation, FARA, the DCM Foundation, SADS Foundation, and ARC.” (opens the source at this quote in a new tab)

“Of all the symptoms and health effects of Genetic Cardiomyopathy, which symptoms have the most significant impact on you or your loved one’s life?” (opens the source at this quote in a new tab)

Voice of the Patient report for Danon disease

No evidence found.

Health state utility values in Danon disease

No evidence found.