UK Spinal Muscular Atrophy Patient Registry

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Odkaz sa uloží do schránky

PostavenieNábor

Sponzori

Newcastle University

KLINICKÁ ŠTÚDIA: NCT04292574

BioSeek: nct04292574

Kľúčové slová

Abstrakt

Spinal Muscular Atrophy (SMA) is a group of different genetic disorders which manifest themselves in muscle weakness due to loss of motor neurons in the spinal cord and brainstem. SMA is an autosomal recessive disorder therefore all forms of SMA are caused by inheritance of a mutated gene from each parent. If both parents are carriers each infant has a 25% chance of developing the illness. All forms of SMA have an estimated combined incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1/40-1/60. SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis.

The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.

Popis

The UK SMA Patient Registry (https://www.treat-nmd.org.uk/registry/) is a joint venture between the John Walton Muscular Dystrophy Research Centre at Newcastle University and the patient group SMA UK (formerly known as the Jennifer Trust, then SMA Support UK). SMA UK is a UK national charity dedicated to supporting people affected by SMA and investing in essential research into causes, treatments and eventually a cure for the condition. The UK SMA Patient Registry is affiliated with the TREAT-NMD Alliance which is an organisation experienced in the design and implementation of rare disease registries.

The purpose of the UK SMA Patient Registry is to register SMA patients from the UK and Ireland so that they may be considered for relevant clinical trials, receive the most up-to-date information regarding standards of care for their disease and help provide the research community with an understanding of SMA prevalence. Anonymised data from patients who register in the UK SMA Patient Registry will also be shared with TREAT-NMD as part of its global network of national SMA registries.

All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion.

Termíny

Naposledy overené:	01/31/2020
Prvý príspevok:	02/27/2020
Odhadovaná registrácia bola odoslaná:	02/27/2020
Prvý príspevok:	03/02/2020
Posledná aktualizácia bola odoslaná:	03/22/2020
Posledná aktualizácia bola zverejnená:	03/24/2020
Aktuálny dátum začatia štúdie:	07/12/2008
Odhadovaný dátum dokončenia primárneho okruhu:	11/30/2021
Odhadovaný dátum dokončenia štúdie:	11/30/2021

Stav alebo choroba

Spinal Muscular Atrophy

SMA

Intervencia / liečba

Other: Participants with Spinal Muscular Atrophy

Fáza

Skupiny zbraní

Arm	Intervencia / liečba
Participants with Spinal Muscular Atrophy	Other: Participants with Spinal Muscular Atrophy Participants who have volunteered to participate will complete various questionnaires relating to their conditions.

Kritériá oprávnenosti

Pohlavia vhodné na štúdium	All
Metóda vzorkovania	Non-Probability Sample
Prijíma zdravých dobrovoľníkov	Áno
Kritériá	Inclusion Criteria: - All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results Exclusion Criteria: - There are no exclusion criteria for the registry

Výsledok

Primárne výstupné opatrenia

1. Patient questionnaire [12 months]

Patient reported clinical and genetic confirmation of SMA, symptoms relating to muscle weakness, motor function, medication use, family history and ethnicity. This includes the TREAT-NMD Expanded Core Dataset which includes relevant post-marketing surveillance data items too.

UK Spinal Muscular Atrophy Patient Registry

Kľúčové slová

asthenia

fibrosis

atrofia

cystická fibróza

muscle weakness

svalová dystrofia

muscular atrophy