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14 Jun 2012

Trials and projects concerning non-neuromuscular diseases

Illustration for article: Trials and projects concerning non-neuromuscular diseases
Trials supported by the French Muscular Dystrophy Association (AFM-Téléthon) naturally concern neuromuscular diseases but also other rare diseases affecting the immune system, blood, eyes, skin, nervous system or very common diseases such as ischemic cardiomyopathies. Therapeutic pathways include gene therapy and cell therapy or approaches combining both of these.

β-haemoglobinopathies (beta-thalassemia, sickle-cell anemia)

Transplantation of ex vivo modified autologous CD34+ stem cells
  • Type of therapy: cell therapy
  • Product: haematopoietic stem cells + lentivirus-βA-T87Q-globin 
  • Phase: phase II

Crigler-Najjar disease

- In vivo gene therapy
  • Type of therapy : Gene therapy
  • Product : AAV8-UGT1A1
  • Phase : Preclinical development

Cutanous ulcers in sickle-cell anemia

Skin substitute
  • Type of therapy : Cell therapy
  • Product : Human embryonic stem cells
  • Phase : Preclinical development

Dystrophic epidermolysis bullosa (DEB)

Ex vivo gene therapy
  • Type of therapy : Gene therapy
  • Product : Epidermal cells + SIN COL7A1 retrovirus 
  • Phase : Preclinical development

Fanconi anemia

Ex vivo gene therapy
  • Type of therapy : Gene therapy
  • Product : Haematopoietic stem cells + lentivirus-Fanca
  • Phase : Preclinical development

Friedrich's ataxia

 
Effect of pioglitazone administered to patients with Friedreich's ataxia : proof of concept
  • Type of therapy : Pharmacology
  • Product : Pioglitazone
  • Phase : Phase III

Huntington's disease

Multicentric intracerebral grafting (MIG-HD)
  • Type of therapy : Cell therapy
  • Product : Foetal neurons
  • Phase : Phase II
Gene therapy
  • Type of therapy : Gene therapy
  • Product : Lentivirus-CNTF
  • Phase : Preclinical development

Ischemic cardiomyopathies 

Cardiac cell therapy (MESAMI)
  • Type of therapy : Cell therapy
  • Product : Mesenchymal stem cells
  • Phase : Phase II
Embryonic stem cells in the treatment of severe cardiac insufficiency
 
  • Type of therapy : Cell therapy
  • Product : Human embryonic stem cells
  • Phase : Preclinical development

Immune deficiencies

Ex vivo gene therapy for Adenosine Deaminase (ADA) deficiency
  • Type of therapy : Gene therapy
  • Product : Haematopoietic stem cells + retrovirus-ADA
  • Phase : MA application in progress
Ex vivo gene therapy for Artemis deficiency
  • Type of therapy : Gene therapy
  • Product : Haematopoietic stem cells + lentivirus-Artemis
  • Phase : Preclinical development

Chronic granulomatous disease (CGD)

  • Type of therapy : Gene therapy
  • Product : Haematopoietic stem cells + lentivirus-CGD
  • Phase : Preclinical development

Ex vivo gene therapy for Wiskott-Aldrich syndrome (WAS)

  • Type of therapy : Gene therapy
  • Product : Haematopoietic stem cells + lentivirus-WASP
  • Phase : phase I/II

Leukodystrophies

Ex vivo gene therapy for patients with X-linked adrenoleukodystrophy
  • Type of therapy : Gene therapy
  • Product : Haematopoietic cells + lentivirus-ALD
  • Phase : Phase I/II

Ex vivo gene therapy in metachromatic leukodystrophy

  • Type of therapy : Gene therapy
  • Product : Haematopoietic stem cells + AAV10
  • Phase : Preclinical development

Progeria

Treatment of the Hutchinson-Gilford progeria syndrome with a combination of pravastatin and zoledronic acid
  • Type of therapy : Pharmacology
  • Product : Pravastatin and zoledronic acid
  • Phase : Phase II

Retinal pathologies

Clinical gene therapy protocol for the treatment of retinal dystrophy caused by defects in RPE65 gene (Leber's amaurosis)
 
  • Type of therapy : Gene therapy
  • Product : rAAV-2/4.hRPE65
  • Phase : phase I/II
In vivo gene therapy for Leber's hereditary optic neuropathy (LHON)
  • Type of therapy : Gene therapy
  • Product : AAV2-ND4
  • Phase : Preclinical development

San Filippo syndrome type B (MPS III B)

In vivo gene therapy
  • Type of therapy : Gene therapy
  • Product : AAV-NaGlu
  • Phase : Preclinical development