Table 1.
Recent orphan drug approvals supported by video technology (2017–2021)
| Product (product type/INN) | Region and approval date | Approved therapeutic indication | Use of video capture |
|---|---|---|---|
| Brineura (cerliponase alfa) | USA: Apr 2017 | Treatment of CLN5/Batten disease | The motor domain of a CLN2 Clinical Rating Scale was used to assess disease progression based on both live and video assessment [19] |
| Evrysdi (risdiplam) |
EU: Mar 2021 USA: Aug 2020 |
Treatment of SMA | The main study (BP39056) primary efficacy endpoint was the proportion of infants sitting without support after 12 months of treatment. The endpoint was defined as sitting without support for 5 s (as assessed in Item 22 of the Bayley Scales of Infant and Toddler Development—Third Edition [BSID-III] gross motor scale). This was video-recorded in a standardized manner and centrally reviewed by two independent experts in addition to the site clinical evaluator assessment. The assessment of the central experts was used for the primary endpoint analysis after 12 months of treatment with risdiplam [17, 20] |
| Ingrezza® (valbenazine tosylate) |
EU: NA USA: Nov 2017 |
Treatment of TD | Video recording evaluated for the primary efficacy endpoint, as defined in the protocol. Assessments were performed by central raters blinded to study treatment and visit sequence. Raters evaluated the severity of TD by scoring videos using a modified abnormal involuntary movement scale score [21] |
| Luxturna® (gene therapy) | EU: Nov 2018 USA: Dec 2017 | Treatment of patients with vision loss due to Leber’s congenital amaurosis or retinitis pigmentosa inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations | As defined in the protocol, video assessments of patients performing multi-luminance mobility testing and scoring of performance by central raters [22, 23] |
| Ruzurgi (amifampridine) | USA: May 2019 | Treatment of Lambert–Eaton myasthenic syndrome in pediatric patients | The primary measure of efficacy was the categorization of the degree of change (e.g., >30% deterioration) in the Triple Timed Up and Go test (3TUG) upon withdrawal of active medication, when compared with the time-matched average of the 3TUG assessments at baseline. The 3TUG test was recorded on video, then reviewed by a central reviewer, blinded to the treatment, and used for the primary endpoint [18] |
| Zolgensma® (gene therapy) |
EU: May 2020. USA: May 2019 |
Treatment of SMA | Main study 303: confirm the co-primary efficacy endpoint “proportion of patients that achieve functional independent sitting for at least 30 s at the 18 months of age study visit” is achieved; head control, rolls from back to sides and walking alone were also video-documented milestones. Other supportive studies: developmental milestone assessments, including new motor milestones in the long-term safety follow-up study (LT-101), were also confirmed by central video review [24] |
INN international nonproprietary name, NA not applicable, SMA spinal muscular atrophy, TD tardive dyskinesia