Меню
Идёт набор NCT00390104

Molecular Analysis of Patients With Neuromuscular Disease

— Наблюдательное Neuromuscular; Disorder, Hereditary Duchenne/Becker Muscular Dystrophy Limb-girdle Muscular Dystrophy

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
Кому может быть актуально
Состояния в реестре: Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy. Базовые параметры: 1 Week — 100 лет · Все.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
США
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

Не всё понятно в терминах? Прочитайте наш гид для пациентов →

Официальное название

Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members

Обзор

The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.

Подробное описание

We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.

Критерии участия

The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.

Критерии включения

  • having a clinical and/or pathological diagnosis of a muscular dystrophy
  • being the first degree relative of someone with such a diagnosis
  • having had a muscle biopsy if diagnosed with a neuromuscular disease
  • willingness to provide a skin biopsy for research only

Критерии исключения

  • not having a neuromuscular diagnosis in you or a family member
  • not wishing to participate
  • being incapable of giving consent and not having a legal guardian willing or able to do so

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Семейное

Центры проведения

США · 1 центр
  • Boston Children's Hospital — Boston

Публикации

  • Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 Nov 1;50( PMID 30345904
  • Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM. Repression of phosphatidylinositol transfer protein alpha ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017 Jun 6;114(23):6080-6085. doi: 10.1073/pnas.1703556114. Epub 2017 May 22. PMID 28533404
  • Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6. PMID 27708273

Идентификаторы

NCT: NCT00390104 · 03-12-205 · 5R01NS080929

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗