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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.

ABSTRACT: Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018-2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3 SMN2 copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing.

SUBMITTER: Muller-Felber W

PROVIDER: S-EPMC9881029 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.

Müller-Felber Wolfgang W Blaschek Astrid A Schwartz Oliver O Gläser Dieter D Nennstiel Uta U Brockow Inken I Wirth Brunhilde B Burggraf Siegfried S Röschinger Wulf W Becker Marc M Durner Jürgen J Eggermann Katja K Kölbel Heike H Müller Christine C Hannibal Iris I Olgemöller Bernd B Schara Ulrike U von Moers Arpad A Trollmann Regina R Johannssen Jessika J Ziegler Andreas A Cirak Sebahattin S Hahn Andreas A von der Hagen Maja M Weiss Claudia C Schreiber Gudrun G Flotats-Bastardas Marina M Hartmann Hans H Illsinger Sabine S Pechmann Astrid A Horber Veronka V Kirschner Jan J Köhler Cornelia C Winter Benedikt B Friese Johannes J Vill Katharina K

Journal of neuromuscular diseases 20230101 1

Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018-2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported ...[more]

PMID: 36463459

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Project description:BackgroundManagement and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, little is known about the uptake and impact of these therapies in real-world clinical practice. The objective of this study was to describe current motor function, need of assistive devices, and therapeutic and supportive interventions provided by the healthcare system, as well as the socioeconomic situation of children and adults with different SMA phenotypes in Germany. We conducted a cross-sectional, observational study of German patients with genetically confirmed SMA identified and recruited via a nationwide SMA patient registry ( www.sma-register.de ) within the TREAT-NMD network. Study data was recorded directly from patient-caregiver pairs through a study questionnaire administered online via a dedicated study website.ResultsThe final study cohort consisted of 107 patients with SMA. Of these, 24 were children and 83 adults. In total, about 78% of all participants were taking medication for SMA (predominantly nusinersen and risdiplam). All children with SMA1 were able to sit and 27% of children with SMA2 were able to stand or walk. Impaired upper limb function, scoliosis and bulbar dysfunction were observed more frequently in patients with reduced lower limb performance. Physiotherapy, occupational therapy, and speech therapy, as well as the use of cough assists were less common than indicated by care guidelines. Family planning and educational and employment status appear to be related to motor skill impairment.ConclusionsWe show that the natural history of disease has changed in Germany following improvements in SMA care and the introduction of novel therapies. Yet, a non-trivial proportion of patients remain untreated. We also identified considerable limitations in rehabilitation and respiratory care, as well as low labour-market participation among adults with SMA, calling for action to improve the current situation.

Project description:ObjectivesHereditary hemorrhagic telangiectasia (HHT) is a rare disorder encompassing facial and oral telangiectasias and visceral vascular malformations (VMs). Pulmonary VMs can lead to paradoxical embolism of thrombi or bacteria, e.g., due to dental procedures. Early detection can reduce morbidity and mortality and is recommended. However, diagnosis is often delayed for decades. Our study is assessing the feasibility and effect of a nationwide awareness campaign for early diagnosis of HHT addressing all dentists in Germany.MethodsIn 2018, one article and two reminders about HHT were published in a nationwide awareness campaign. As a proxy for the effectiveness of the campaign, researchers measured the number of first-time inquiries from patients and physicians about HHT documented by the German HHT self-help group from September 2016 until September 2019.ResultsA total of 411 first contacts with the German self-help group were documented, mainly via Internet platforms (Internet forum (n = 130) and Facebook® (n = 189)). For 9% of those patients (n = 36/411), the physician or dentist (physician: (n = 31/36, 86%; dentist: n = 5/36, 14%) informed patients about the disease HHT and the self-help group. Before publishing the first article about HHT, no dentist referred patients to the German self-help group; afterwards, 5 patients received information about HHT from their dentist and contacted the patient organization for the first time. After each publication in June, September, and December 2018, the number of new contacts increased. Contacts via phone and e-mail had the highest relative increase.ConclusionsThe repeated call for dental screening for HHT in Germany led to increased awareness of this rare disease; more patients with possible HHT received information about the condition. The authors conclude that targeted campaigns may contribute to a shorter diagnostic latency resulting in increased quality of life and life expectancy in HHT. This trial is registered with CT03549949.

Project description:IntroductionBlack men in the Deep South have been disproportionally affected by high HIV and hepatitis C virus infection rates. Conventional clinic-based screening approaches have had limited success in reaching those with undiagnosed HIV or hepatitis C virus infection. The purpose of this study was to evaluate the acceptability, feasibility, and best practices of an integrated HIV and hepatitis C virus community-based health screening approach.MethodsThe study used a mixed methods approach: focus group discussion, individual interviews, and surveys that assessed perceptions, perspectives, and HIV and hepatitis C virus awareness among six communities across Alabama and Mississippi. Data were collected and analyzed in 2014-2017.ResultsAlthough HIV and hepatitis C virus knowledge was limited among community members surveyed, the results of this study suggest that (1) using an integrated, community-based HIV and hepatitis C virus testing approach is acceptable and feasible; (2) formation of a community advisory board is a key element of successful community mobilization; (3) education and training of community members on disease-specific topics and overcoming stigma are essential; and (4) focus on and inclusion of young community members will be critical for the sustainability of screening efforts.ConclusionsIncluding and engaging communities at risk for HIV and hepatitis C virus infection in prevention research is a promising strategy to overcome existing barriers of stigma and discrimination. Integration of HIV and hepatitis C virus testing in universal health screening efforts utilizing a Community Health Advisors model encourages unbiased communication with a focus on overall community health. Community health advisors are recognized as important agents in this effort.Supplement informationThis article is part of a supplement entitled African American Men's Health: Research, Practice, and Policy Implications, which is sponsored by the National Institutes of Health.

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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.

Publications

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.

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