Santhera Pharmaceuticals Duchenne Drug Development Update

March 24: Santhera Pharmaceuticals Duchenne Drug Development Update – Vamorolone in Duchenne muscular dystrophy Parent Project Muscular Dystrophy and Santhera Pharmaceuticals are holding a webinar on Wednesday, March 24 at 1 PM (USA Eastern Daylight Time – 5pm Irish time). Santhera will provide an update to the community about the investigational therapy vamorolone, the use of steroids to treat Duchenne muscular […]

NAI report reveals critical gaps in neurology services

The Neurological Alliance of Ireland (NAI) has recently published a report “Resourcing of Neurology Services in Ireland Five Years on: 2015-2020” based on a survey of clinicians from 12 neurology centres across Ireland. It reveals critical gaps in neurology services. MDI is a member of the NAI. For more information, follow this link.

MDI Zoom Support Groups

MDI Zoom Support Group for MDI Members with muscular dystrophy From 2pm – 4pm – beginning Tuesday 6th April (for 8 weeks) More details here: SupportGroupFlyer-MEMBERS MDI Zoom Support Group for Parents and Carers From 6.30pm – 8.30pm – beginning Thursday 8th April (for 8 weeks) More details here: SupportGroupFlyer-PARENTS

Update from HSE on COVID-19 vaccination programme

The vaccination programme continues to be rolled out nationwide, and more than 446,474 vaccines have been administered as of the 1st March 2021. As we move into next week, vaccination of Group 3 continues, with people aged 80 and over being invited for their vaccines by GPs. When this group is complete, we’ll move on to […]

ENTWINE survey on informal care

ENTWINE survey on informal care Would you like to take part in an EU-wide survey on informal care? If you are a caregiver or a care recipient, you can access the anonymous survey on this link Find out more about the project here

Sarepta Therapeutics announces treatment for DMD

Sarepta Therapeutics announces FDA (US) Approval of AMONDYS 45™ (casimersen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients amenable to skipping Exon 45 The Food and Drugs Administration (FDA) in the USA has granted accelerated approval to AMONDYS 45™ (casimersen). AMONDYS 45™ is engineered to treat patients with DMD who have genetic […]

Pfizer’s Phase 3 gene therapy trial for DMD

First participant dosed in Pfizer’s Phase 3 gene therapy trial for DMD Pfizer has announced that the first participant has been dosed in the Phase 3 CIFFREO clinical trial. The CIFFREO study is testing the effectiveness and safety of the potential therapy drug PF-06939926 for the treatment of Duchenne muscular dystrophy (DMD). This is the […]

1. Muscular Dystrophies

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Manifesting carrier of Duchenne
  • Congenital muscular dystrophy
  •     •  General
  •     •  MDC1A (merosin-deficient congenital muscular dystrophy)
  •     •  Rigid spine syndrome (RSS)
  •     •  Ullrich congenital muscular dystrophies
  •     •  Bethlem myopathy
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle types of muscular dystrophy (LGMD)
  •     •  General
  •     •  LGMD 1B (also known as Laminopathy)
  •     •  LGMD 1C (also known as Caveolinopathy)
  •     •  LGMD 2A (also known as Calpainopathy)
  •     •  LGMD 2B (also known as Dysferlinopathy)
  •     •  LGMD 2I
  • Ocular myopathies including ocularopharangeal muscular dystrophy

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core Myopathy
  • Congenital Fibre-type Disproportion Myopathy
  • Minicore (Multicore) myopathy
  • Myotubular or Centronuclear myopathy
  • Nemaline myopathy

4. Mitochondrial Myopathies

  • Mitochondrial Myopathies

5. Metabolic Disorders

  • Metabolic disorders (general)
  • McArdle’s Disease
  • Pompe’s Disease

6. Periodic Paralyses

  • Periodic Paralyses

7. Autoimmune Myositis

  • Polymyositis, Dermatomyositis and Sarcoid myopathy
  • Juvenile dermatomyositis
  • Inclusion body myositis

8. Spinal Muscular Atrophies

  • Severe (Type I)
  • Intermediate (Type II)
  • Mild (Type III)
  • Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

  • (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

  • Congenital myasthenic syndromes
  • Myasthenia Gravis

11. Friedreich’s Ataxia

  • Friedreich’s Ataxia

12. Other (Please Specify)

13. Unspecified