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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, liver, 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.

 

Crigler-Najjar disease

In vivo gene therapy

Type of therapy : Gene therapy

Product : AAV8-UGT1A1

Phase : Phase I/II

 

Cutanous ulcers in sickle-cell anemia

Skin substitute

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

Junctional epidermolysis bullosa

Ex vivo gene therapy

Type of therapy : Gene therapy
Product : Embryonic stem cell 
Phase : Pilote study
 

Fanconi anemia

Ex vivo gene therapy

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

Friedrich's ataxia

Gene therapy

Type of therapy : Gene therapy
Product : AAV-FXN
Phase : Preclinical development
 

Huntington's disease

Cell therapy

Type of therapy : Cell therapy
Product : Embryonic stem cells
Phase : Preclinical development
 

Ischemic cardiomyopathies 

Embryonic stem cells in the treatment of severe cardiac insufficiency. Published in 2018 January

Type of therapy : Cell therapy
Product : Human embryonic stem cells
Phase : Phase 1
 

Immune deficiencies

Adenosine Deaminase (ADA) deficiency

Type of therapy : Gene therapy
Product : Strimvelis
Phase : Marketing authorization

 

Artemis deficiency

Type of therapy : Ex vivo gene therapy
Product : Haematopoietic stem cells + LV-Artemis
Phase : Preclinical development
 

Chronic granulomatous disease (CGD)

Type of therapy : Ex vivo gene therapy
Product : Haematopoietic stem cells + LV-CGD
Phase : Phase I/II
 

Wiskott-Aldrich syndrome (WAS)

Type of therapy : Ex vivo gene therapy
Product : Haematopoietic stem cells + LV-WAS
Phase : Phase I/II
 

X-linked Severe Combined Immunodeficiency (SCID-X1)

Type of therapy : Ex vivo gene therapy
Product : Haematopoietic stem cells + LV-XSCID
Phase : Phase I/II
 

Systemic lupus erythematosus

Treatment of Refractory Systemic Lupus Erythematosus by Allogeneic Mesenchymal Stem Cells Derived From the Umbilical Cord (MSC-SLE)

Type of therapy : Cell therapy
Product : Allogenic mesenchymal stem cells
Phase : Preclinical development
 

Multiple sclerosis

Trial to Assess the Safety and Feasibility of Adoptive Cell Therapy With Autologous EBV-specific Cytotoxic T Lymphocytes (CTL) in Patients With a First Clinical Episode Highly Suggestive of Multiple Sclerosis (MS and EBV-CTL)

Type of therapy : Cell therapy
Product : Autologous EBV-specific cytotoxic T lymphocytes (CTL)
Phase : Preclinical development

 

Phelan-McDermid syndrome

Lithium
Type of therapy : Pharmacology
Product : Lithium
Phase : Pilote clinical study
 

Retinal pathologies

Preclinical development of AAV2-ND4 permitted two on going phase 3 trials (RESCUE and REVERSE) in Europe and the US to evaluate the efficacy of GS010 in Leber's hereditary optic neuropathy (LHON) patients

Type of therapy : Gene therapy
Product : GS010 (AAV2-ND4)
Phase : Phase III
 

Preclinical development of AAV2-RdCV permitted to launch a phase 1 ascending dose trial in pigmentary retinopathy

Type of therapy : Gene therapy
Product : AAV2-RdCV
Phase : phase I
 

Preclinical development of retinal pigment epithelium cell therapy for pigmentary retinopathy

Type of therapy : Cell therapy
Product : Embryonic stem cells
Phase : Phase I
 

San Filippo syndrome type B (MPS III B)

Intracerebral Gene Therapy

Type of therapy : Gene therapy
Product : AAV-NaGlu
Phase : Phase I/II extension